Éditeur(s) : HAL CCSD BioMed Central
Résumé : International audience
Background: Ovarian failure (OF) is considered premature if it occurs before the age of 40. This study investigates the genetic aetiology underlying OF in women under the age of 40 years. Methods: We conducted an experimental prospective study performing all genome microarrays in 60 patients younger than 40 years presenting an OF revealed by a decrease of circulating Anti-Mullerian Hormone (AMH) and leading to an oocyte donation program. Results: We identified nine significant copy number variations (CNVs) including candidate genes potentially implicated in reproductive function. These genes are principally involved in cell division and chromosome segregation (SYCE1, CLASP1, CENP-A, CDC16), in ciliary development and/or function (RSPH1, KIF24), are linked with known gonadal genes or expressed in female genital tract (CSMD1, SEMA6D, KIAA1324). Conclusions: Our data strengthen the idea that microarrays should be used in combination with karyotype for aetiological assessment of patients with OF. This analysis may have a therapeutic impact as the identification of new molecular actors for gonadal development or ovarian physiology is useful for the prediction of an ovarian reserve decline and makes possible preventive fertility preservation.
ISSN: 1757-2215

hal-01390979
https://hal-univ-rennes1.archives-ouvertes.fr/hal-01390979
DOI : 10.1186/s13048-016-0272-5
PUBMED : 27716277

Éditeur(s) : HAL CCSD BioMed Central
Résumé : International audience
BACKGROUND: Few studies have considered using environmental amenities to explain social health inequalities.Nevertheless, Green spaces that promote good health may have an effect on socioeconomic health inequalities. In developed countries, there is considerable evidence that green spaces have a beneficial effect on the health of urban populations and recent studies suggest they can have a positive effect on pregnancy outcomes. To investigate the relationship between green spaces and the spatial distribution of infant mortality taking account neighborhood deprivation levels. METHODS: The study took place in Lyon metropolitan area, France. All infant deaths that occurred between 2000 and 2009 were geocoded at census block level. Each census block was assigned greenness and socioeconomic deprivation levels. The spatial--scan statistic was used to identify high risk cluster of infant mortality according to these neighborhood characteristics. RESULTS: The spatial distribution of infant mortality was not random with a high risk cluster in the south east of the Lyon metropolitan area (p<0.003). This cluster disappeared (p=0.12) after adjustment for greenness level and socioeconomic deprivation, suggesting that these factors explain part of the spatial distribution of infant mortality. These results are discussed using a conceptual framework with 3 hypothetical pathways by which green spaces may have a beneficial effect on adverse pregnancy outcomes: (i) a psychological pathway, (ii) a physiological disruption process and (iii) an environmental pathway. CONCLUSIONS: These results add some evidence to the hypothesis that there is a relationship between access to green spaces and pregnancy outcomes but further research is required to confirm this.
BMC Pregnancy and Childbirth

hal-00876083
https://hal.archives-ouvertes.fr/hal-00876083
https://hal.archives-ouvertes.fr/hal-00876083/document
DOI : 10.1186/1471-2393-13-191

Éditeur(s) : HAL CCSD BioMed Central
Résumé : International audience
Background : In a recent study, we have demonstrated that amelotin (AMTN) gene structure and its expression during amelogenesis have changed during tetrapod evolution. Indeed, this gene is expressed throughout enamel matrix deposition and maturation in non-mammalian tetrapods, while in mammals its expression is restricted to the transition and maturation stages of amelogenesis. Previous studies of amelogenin (AMEL) gene expression in a lizard and a salamander have shown similar expression pattern to that in mammals, but to our knowledge there are no data regarding ameloblastin (AMBN) and enamelin (ENAM) expression in non-mammalian tetrapods. The present study aims to look at, and compare, the structure and expression of four enamel matrix protein genes, AMEL, AMBN, ENAM and AMTN during amelogenesis in the lizard Anolis carolinensis.Results : We provide the full-length cDNA sequence of A. carolinensis AMEL and AMBN, and show for the first time the expression of ENAM and AMBN in a non-mammalian species. During amelogenesis in A. carolinensis, AMEL, AMBN and ENAM expression in ameloblasts is similar to that described in mammals. It is noteworthy that AMEL and AMBN expression is also found in odontoblasts. Conclusions : Our findings indicate that AMTN is the only enamel matrix protein gene that is differentially expressed in ameloblasts between mammals and sauropsids. Changes in AMTN structure and expression could be the key to explain the structural differences between mammalian and reptilian enamel, i.e. prismatic versus non-prismatic.
ISSN: 2041-9139

Droits : http://creativecommons.org/licenses/by/
hal-01206550
http://hal.upmc.fr/hal-01206550
http://hal.upmc.fr/hal-01206550/document
http://hal.upmc.fr/hal-01206550/file/Gasse_2015_Comparative.pdf
DOI : 10.1186/s13227-015-0024-4

Éditeur(s) : HAL CCSD BioMed Central
Résumé : International audience
Background : Trichoderma reesei is the main industrial source of cellulases and hemicellulases required for the hydrolysis of biomass to simple sugars, which can then be used in the production of biofuels and biorefineries. The highly productive strains in use today were generated by classical mutagenesis. As byproducts of this procedure, mutants were generated that turned out to be unable to produce cellulases. In order to identify the mutations responsible for this inability, we sequenced the genome of one of these strains, QM9136, and compared it to that of its progenitor T. reesei QM6a.Results : In QM9136, we detected a surprisingly low number of mutagenic events in the promoter and coding regions of genes, i.e. only eight indels and six single nucleotide variants. One of these indels led to a frame-shift in the Zn2Cys6 transcription factor XYR1, the general regulator of cellulase and xylanase expression, and resulted in its C-terminal truncation by 140 amino acids. Retransformation of strain QM9136 with the wild-type xyr1 allele fully recovered the ability to produce cellulases, and is thus the reason for the cellulase-negative phenotype. Introduction of an engineered xyr1 allele containing the truncating point mutation into the moderate producer T. reesei QM9414 rendered this strain also cellulase-negative. The correspondingly truncated XYR1 protein was still able to enter the nucleus, but failed to be expressed over the basal constitutive level.Conclusion : The missing 140 C-terminal amino acids of XYR1 are therefore responsible for its previously observed auto-regulation which is essential for cellulases to be expressed. Our data present a working example of the use of genome sequencing leading to a functional explanation of the QM9136 cellulase-negative phenotype.
ISSN: 1471-2164

Droits : http://creativecommons.org/licenses/by/
hal-01149671
http://hal.upmc.fr/hal-01149671
http://hal.upmc.fr/hal-01149671/document
http://hal.upmc.fr/hal-01149671/file/Lichius_2015_Genome_sequencing.pdf
DOI : 10.1186/s12864-015-1526-0

Éditeur(s) : HAL CCSD BioMed Central
Résumé : International audience
BACKGROUND: Few studies have explored how noise might contribute to social health inequalities, and even fewer have considered infant mortality or its risk factors as the health event of interest.In this paper, we investigate the impact of neighbourhood characteristics - both socio-economic status and ambient noise levels - on the spatial distribution of infant mortality in the Lyon metropolitan area, in France. METHODS: All infant deaths (n = 715) occurring between 2000 and 2009 were geocoded at census block level. Each census block was assigned multi-component socio-economic characteristics and Lden levels, which measure exposure to noise. Using a spatial-scan statistic, we examined whether there were significant clusters of high risk of infant mortality according to neighbourhood characteristics. RESULTS: Our results highlight the fact that infant mortality is non-randomly distributed spatially, with clusters of high risk in the south-east of the Lyon metropolitan area (RR = 1.44; p = 0.09). After adjustments for socio-economic characteristics and noise levels, this cluster disappears or shifts according to in line with different scenarios, suggesting that noise and socio-economic characteristics can partially explain the spatial distribution of infant mortality. CONCLUSION: Our findings show that noise does have an impact on the spatial distribution of mortality after adjustments for socio-economic characteristics. A link between noise and infant mortality seems plausible in view of the three hypothetical, non-exclusive, pathways we propose in our conceptual framework: (i) a psychological pathway, (ii) a physiological disruption process and (iii) an unhealthy behaviours pathway. The lack of studies makes it is difficult to compare our findings with others. They require further research for confirmation and interpretation.
ISSN: 1476-069X

Droits : info:eu-repo/semantics/OpenAccess
inserm-00924503
http://www.hal.inserm.fr/inserm-00924503
http://www.hal.inserm.fr/inserm-00924503/document
http://www.hal.inserm.fr/inserm-00924503/file/1476-069X-12-109.pdf
PUBMED : 24341620

Éditeur(s) : HAL CCSD BioMed Central
Résumé : International audience
ABSTRACT: Eclipsed by the debates about malaria incidence and severity in individual patients, malaria transmission in helminth-infected persons has so far received very little attention. Studies in humans have shown increased malaria incidence and prevalence, and a trend for a reduction of symptoms in patients with malaria. This suggests that such patients could possibly be less likely to seek treatment thus carrying malaria parasites and their gametocytes for longer durations, therefore, being a greater potential source of transmission. In addition, in humans, a study showed increased gametocyte carriage, and in an animal model of helminth-malaria co-infection, there was increased malaria transmission. These elements converge towards the hypothesis that patients co-infected with worms and malaria may represent a hub of malaria transmission. The test of this hypothesis requires verifying, in different epidemiological settings, that helminth-infected patients have more gametocytes, that they have less symptomatic malaria and longer-lasting infections, and that they are more attractive for the vectors. The negative outcome in one setting of one of the above aspects does not necessarily mean that the other two aspects may suffice to increase transmission. If it is verified that patients co-infected by worms and malaria could be a transmission hub, this would be an interesting piece of strategic information in the context of the spread of anti-malarial resistance and the malaria eradication attempts.
ISSN: 1475-2875

inserm-00758017
http://www.hal.inserm.fr/inserm-00758017
http://www.hal.inserm.fr/inserm-00758017/document
http://www.hal.inserm.fr/inserm-00758017/file/1475-2875-11-376.pdf
DOI : 10.1186/1475-2875-11-376

Éditeur(s) : HAL CCSD BioMed Central
Résumé : International audience
BACKGROUND: Few studies have considered using environmental amenities to explain social health inequalities.Nevertheless, Green spaces that promote good health may have an effect on socioeconomic health inequalities. In developed countries, there is considerable evidence that green spaces have a beneficial effect on the health of urban populations and recent studies suggest they can have a positive effect on pregnancy outcomes. To investigate the relationship between green spaces and the spatial distribution of infant mortality taking account neighborhood deprivation levels. METHODS: The study took place in Lyon metropolitan area, France. All infant deaths that occurred between 2000 and 2009 were geocoded at census block level. Each census block was assigned greenness and socioeconomic deprivation levels. The spatial--scan statistic was used to identify high risk cluster of infant mortality according to these neighborhood characteristics. RESULTS: The spatial distribution of infant mortality was not random with a high risk cluster in the south east of the Lyon metropolitan area (p<0.003). This cluster disappeared (p=0.12) after adjustment for greenness level and socioeconomic deprivation, suggesting that these factors explain part of the spatial distribution of infant mortality. These results are discussed using a conceptual framework with 3 hypothetical pathways by which green spaces may have a beneficial effect on adverse pregnancy outcomes: (i) a psychological pathway, (ii) a physiological disruption process and (iii) an environmental pathway. CONCLUSIONS: These results add some evidence to the hypothesis that there is a relationship between access to green spaces and pregnancy outcomes but further research is required to confirm this.
ISSN: 1471-2393

inserm-00878362
http://www.hal.inserm.fr/inserm-00878362
http://www.hal.inserm.fr/inserm-00878362/document
http://www.hal.inserm.fr/inserm-00878362/file/1471-2393-13-191.pdf
DOI : 10.1186/1471-2393-13-191

Éditeur(s) : HAL CCSD BioMed Central
Résumé : International audience
BACKGROUND:In French Guiana, cervical cancer is the second most frequent cancer in females. The objective of the present study was to describe the prevalence of HPV infections in women with normal cervical cytology living in the remote villages of French Guiana.METHODS:Before the study, the study team communicated in the remote villages on the importance of screening. All women from the target population were offered to participate. They signed informed consent during inclusion and then had a concomitant HPV-test and cervical smear. Only women with normal cytology and a good quality smear were analyzed. The detection of HPV-DNA was performed using the GREINER-BIO-ONE kit.RESULTS:Overall, 27.2% of women with normal cervical cytology had a positive HPV-test. There was a U-shaped evolution of prevalence with women over 50 years having the highest HPV prevalence, followed by the 20 to 29 years group. The most prevalent HPV genotypes were HPV 53(3.52%), 68(3.33%), 52(2.59%), 31(2.22%) and 16 (1.85%). The proportion of HPV 16 among HPV-infected women was 6.8%.CONCLUSIONS:HPV prevalence in cytologically normal women was very high. The most prevalent genotypes were very different from what is usually described in the world, and notably in South America.
ISSN: 1471-2458

pasteur-01583545
https://hal-riip.archives-ouvertes.fr/pasteur-01583545
https://hal-riip.archives-ouvertes.fr/pasteur-01583545/document
https://hal-riip.archives-ouvertes.fr/pasteur-01583545/file/2017%20Adenis%20et%20al.BMC%20Public%20Health.pdf
DOI : 10.1056/NEJMoa0808516

Éditeur(s) : HAL CCSD BioMed Central
Résumé : International audience
Background: Despite intensive research over several decades, the etiology of multiple sclerosis (MS) remains poorly understood, although environmental factors are supposedly implicated. Our goal was to identify spatial clusters of MS incident cases at the small-area level to provide clues to local environmental risk factors that might cause or trigger the disease. Methods: A population-based and multi-stage study was performed in the French Brittany region to accurately ascertain the clinical onset of disease during the 2000-2004 period. The municipality of residence at the time of clinical onset was geocoded. To test for the presence of MS incidence clusters and to identify their approximate locations, we used a spatial scan statistic. We adjusted for socioeconomic deprivation, known to be strongly associated with increased MS incident rates, and scanned simultaneously for areas with either high or low rates. Sensitivity analyses (focusing on relapsing-remitting forms and/or places of residence available within the year following clinical onset) were performed. Results: A total of 848 incident cases of MS were registered in Brittany, corresponding to a crude annual incidence rate of 5.8 per 100,000 inhabitants. The spatial scan statistic did not find a significant cluster of MS incidence in either the primary analysis (p value >= 0.56) or in the sensitivity analyses (p value >= 0.16). Conclusion: The findings of this study indicate that MS incidence is not markedly affected across space, suggesting that in the years preceding the first clinical expression of the disease, no environmental trigger is operative at the small-area population level in the French Brittany region.
ISSN: 1476-072X

hal-01616063
https://hal-univ-rennes1.archives-ouvertes.fr/hal-01616063
DOI : 10.1186/s12942-017-0108-6
PUBMED : 28934989

Éditeur(s) : HAL CCSD BioMed Central
Résumé : International audience
BackgroundTo date, all studies conducted on breast cancer diagnosis have focused on the expression of the full-length 66-kDa estrogen receptor alpha (ERα66). However, much less attention has been paid to a shorter 46-kDa isoform (ERα46), devoid of the N-terminal region containing the transactivation function AF-1. Here, we investigated the expression levels of ERα46 in breast tumors in relation to tumor grade and size, and examined the mechanism of its generation and its specificities of coregulatory binding and its functional activities.MethodsUsing approaches combining immunohistochemistry, Western blotting, and proteomics, antibodies allowing ERα46 detection were identified and the expression levels of ERα46 were quantified in 116 ERα-positive human breast tumors. ERα46 expression upon cellular stress was studied, and coregulator bindings, transcriptional, and proliferative response were determined to both ERα isoforms.ResultsERα46 was expressed in over 70% of breast tumors at variable levels which sometimes were more abundant than ERα66, especially in differentiated, lower-grade, and smaller-sized tumors. We also found that ERα46 can be generated via internal ribosome entry site-mediated translation in the context of endoplasmic reticulum stress. The binding affinities of both unliganded and fully-activated receptors towards co-regulator peptides revealed that the respective potencies of ERα46 and ERα66 differ significantly, contributing to the differential transcriptional activity of target genes to 17β estradiol (E2). Finally, increasing amounts of ERα46 decrease the proliferation rate of MCF7 tumor cells in response to E2.ConclusionsWe found that, besides the full-length ERα66, the overlooked ERα46 isoform is also expressed in a majority of breast tumors. This finding highlights the importance of the choice of antibodies used for the diagnosis of breast cancer, which are able or not to detect the ERα46 isoform. In addition, since the function of both ERα isoforms differs, this work underlines the need to develop new technologies in order to discriminate ERα66 and ERα46 expression in breast cancer diagnosis which could have potential clinical relevance.
ISSN: 1465-5411

inserm-01412032
http://www.hal.inserm.fr/inserm-01412032
http://www.hal.inserm.fr/inserm-01412032/document
http://www.hal.inserm.fr/inserm-01412032/file/13058_2016_Article_780.pdf
DOI : 10.1186/s13058-016-0780-7

Éditeur(s) : HAL CCSD BioMed Central
Résumé : International audience
ABSTRACT: BACKGROUND: The amount of lead in the environment has decreased significantly in recent years, and so did exposure. However, there is no known safe exposure level and, therefore, the exposure of children to lead, although low, remains a major public health issue. With the lower levels of exposure, it is becoming more difficult to identify lead sources and new approaches may be required for preventive action. This study assessed the usefulness of lead isotope ratios for identifying sources of lead using data from a nationwide sample of French children aged from six months to six years with blood lead levels (B-Pb) [greater than or equal to] 25 ug/L. METHODS: Blood samples were taken from 125 children, representing about 600,000 French children; environmental samples were taken from their homes and personal information was collected. Lead isotope ratios were determined using quadrupole ICP-MS (inductively coupled plasma - mass spectrometry) and the isotopic signatures of potential sources of exposure were matched with those of blood in order to identify the most likely sources. RESULTS: In addition to the interpretation of lead concentrations, lead isotope ratios were potentially of use for 57% of children aged from six months to six years with blood lead level [greater than or equal to] 25 ug/L (7% of overall children in France, about 332,000 children), with at least one potential source of lead and sufficiently well discriminated lead isotope ratios. Lead isotope ratios revealed a single suspected source of exposure for 32% of the subjects and were able to eliminate at least one unlikely source of exposure for 30% of the children. CONCLUSIONS: In France, lead isotope ratios could provide valuable additional information in about a third of routine environmental investigations.
ISSN: 1476-069X

inserm-00624817
http://www.hal.inserm.fr/inserm-00624817
http://www.hal.inserm.fr/inserm-00624817/document
http://www.hal.inserm.fr/inserm-00624817/file/1476-069X-10-75.pdf
DOI : 10.1186/1476-069X-10-75

Éditeur(s) : HAL CCSD BioMed Central
Résumé : International audience
BackgroundMalaria is endemic in French Guiana, an overseas territory of France on the Guiana Shield. Since 2005, notified malaria cases are decreasing. However, new data show that malaria affects many Brazilian gold miners working illegally in French Guiana, the majority of whom are not counted in official data. In addition, one major concern is the usual practice of improper self-treatment in this mining population, raising fear of the development of antimalarial resistance. This prospective study, conducted in 2015, aimed to estimate the prevalence of Plasmodium spp. in illegal gold miners working in French Guiana. MethodsThe recruitment of gold miners was carried out in resting sites along the French Guiana-Suriname border, where they go for supplies, medical care or leisure. After recording agreement, three malaria diagnostic methods were performed: rapid diagnostic test, microscopy and PCR,ResultsAmong 421 persons recruited in the study, malaria prevalence, detected by nested-PCR, was 22.3% (CI=[18.3-26.3], n=94/421) of which 84% were asymptomatic. ConclusionThis significant malaria reservoir in a mobile and illegal population with difficult access to a health care system raises the threat of artemisinin resistance and puts the population of the Guiana Shield at risk of new transmission foci while countries of the region aim at malaria elimination. Even though French legislation may hamper dealing with this population, France must face the reality of malaria in illegal gold miners in order to meet its commitment to malaria elimination.
ISSN: 1475-2875

hal-01346800
https://hal.archives-ouvertes.fr/hal-01346800
https://hal.archives-ouvertes.fr/hal-01346800/document
https://hal.archives-ouvertes.fr/hal-01346800/file/2016%2C%20Douine%20-%20Prevalence%20of%20Plasmodium%20spp.%20in%20illegal%20gold%20miners%20in%20French%20Guiana%20in%202015.pdf
DOI : 10.1186/s12936-016-1367-6

Éditeur(s) : HAL CCSD BioMed Central
Résumé : International audience
AbstractBackgroundSuicide rates in prison are high and their risk factors are incompletely understood. The objective of the present study is to measure the risk of suicide and its predictors in the only prison of multicultural French Guiana.MethodsAll new prisoners arriving between September 2013 and December 2014 were included. The Mini International Neuropsychiatric Interview (MINI) was used and socio-demographic data was collected. In order to identify the predictors of suicide risk multivariate logistic regression was used.ResultsOf the 707 prisoners included 13.2% had a suicidal risk, 14.0% of whom had a high risk, 15.1% a moderate risk and 41.9% a low risk. Predictive factors were depression (OR 7.44, 95% CI: 3.50–15.87), dysthymia (OR 4.22, 95% CI: 1.34–13.36), panic disorder (OR 3.47, 95% CI: 1.33–8.99), general anxiety disorder (GAD) (OR 2.19, 95% CI: 1.13–4.22), men having been abused during childhood (OR 21.01, 95%, CI: 3.26–135.48), having been sentenced for sexual assault (OR 7.12, 95% CI: 1.98–25.99) and smoking (OR 2.93, 95%, CI 1.30–6.63).ConclusionThe suicide risk was lower than in mainland France, possibly reflecting the differences in the social stigma attached to incarceration because of migrant populations and the importance and trivialization of drug trafficking among detainees. However, there were no differences between nationalities. The results reemphasize the importance of promptly identifying and treating psychiatric disorders, which were the main suicide risk factors.
ISSN: 1471-244X

inserm-01517176
http://www.hal.inserm.fr/inserm-01517176
http://www.hal.inserm.fr/inserm-01517176/document
http://www.hal.inserm.fr/inserm-01517176/file/12888_2017_Article_1320.pdf
DOI : 10.1186/s12888-017-1320-4

Éditeur(s) : HAL CCSD BioMed Central
Résumé : International audience
Background: Adolescent obesity is prevalent in Pacific region ethnic groups (European, Melanesian and Polynesian) living in both urban and rural areas. Although body perception is an important factor of weight gain or loss, little is known about the body self-perceptions of Pacific region adolescents. This study therefore evaluated adolescent perceptions of body weight according to ethnicity (European, Melanesian or Polynesian), socioeconomic status (low, intermediate or high) and living area (rural or urban) in New Caledonia.Methods: Sociodemographic and anthropomorphic data from 737 adolescents (351 boys and 386 girls) with ages ranging from 11 to 16 years were collected and analysed. The International Obesity Task Force (IOTF) standards were used to define weight status as normal-weight, underweight or overweight/obese. Weight perception was assessed from detailed questionnaires, with adolescents rating their own weight with the following descriptors: 'about the right weight', 'too heavy', or 'too light'.Results: Results showed that only 8.5% of normal-weight adolescents (7% boys and 10% girls) identifying themselves as ‘too heavy’. Normal-weight Melanesian adolescents were less likely than their European counterparts to assess themselves as too heavy (OR = 0.357). However, half the overweight/obese adolescents underestimated their weight status (53% boys and 48% girls). Weight misperception was associated with ethnicity, socioeconomic status and living area, with gender-specific differences.Conclusions: The results of this study suggest that these sociodemographic factors should be taken into account when designing public health policies and health education school programmes in New Caledonia and, more broadly, the Pacific regio
ISSN: 1471-2458

Droits : info:eu-repo/semantics/OpenAccess
hal-01678909
https://hal.univ-antilles.fr/hal-01678909
https://hal.univ-antilles.fr/hal-01678909/document
https://hal.univ-antilles.fr/hal-01678909/file/Misperception%20of%20weight%20status%20in%20the%20pacific-%20preliminary%20findings%20in%20rural%20and%20urban%2011-%20to%2016-year-olds%20of%20New%20Caledonia%20Ste%CC%81phane%20Frayon%20et%20al%202017.pdf
DOI : 10.1186/s12889-016-3982-0

Éditeur(s) : HAL CCSD BioMed Central
Résumé : International audience
Background: Color polymorphism in the nacre of pteriomorphian bivalves is of great interest for the pearl culture industry. The nacreous layer of the Polynesian black-lipped pearl oyster Pinctada margaritifera exhibits a large array of color variation among individuals including reflections of blue, green, yellow and pink in all possible gradients. Although the heritability of nacre color variation patterns has been demonstrated by experimental crossing, little isknown about the genes involved in these patterns. In this study, we identify a set of genes differentially expressed among extreme color phenotypes of P. margaritifera using a suppressive and subtractive hybridization (SSH) method comparing black phenotypes with full and half albino individuals.Results: Out of the 358 and 346 expressed sequence tags (ESTs) obtained by conducting two SSH libraries respectively, the expression patterns of 37 genes were tested with a real-time quantitative PCR (RT-qPCR) approach by pooling five individuals of each phenotype. The expression of 11 genes was subsequently estimated for each individual in order to detect inter-individual variation. Our results suggest that the color of the nacre is partiallyunder the influence of genes involved in the biomineralization of the calcitic layer. A few genes involved in the formation of the aragonite tablets of the nacre layer and in the biosynthesis chain of melanin also showed differential expression patterns. Finally, high variability in gene expression levels were observed within the black phenotypes.Conclusions: Our results revealed that three main genetic processes were involved in color polymorphisms: the biomineralization of the nacreous and calcitic layers and the synthesis of pigments such as melanin, suggesting that color polymorphism takes place at different levels in the shell structure. The high variability of gene expression found within black phenotypes suggests that the present work should serve as a basis for future studies exploringmore thoroughly the expression patterns of candidate genes within black phenotypes with different dominant iridescent colors.
ISSN: 1471-2164

hal-01260141
https://hal.archives-ouvertes.fr/hal-01260141
https://hal.archives-ouvertes.fr/hal-01260141/document
https://hal.archives-ouvertes.fr/hal-01260141/file/Lemer-2015-BMCGenom-Identification.pdf
DOI : 10.1186/s12864-015-1776-x

Éditeur(s) : HAL CCSD BioMed Central
Résumé : International audience
UNLABELLED: ABSTRACT: BACKGROUND: High circulating parasite load is one of the WHO criteria for severe falciparum malaria. During a period of 11 years (2000-2010), the frequency of hyperparasitaemia (HP) (≥4% infected erythrocytes) during bouts of malaria due to Plasmodium falciparum, Plasmodium vivax and Plasmodium malariae in patients referred to Cayenne General Hospital (CGH) in French Guiana and the frequency of their admission to the Intensive Care Unit (ICU) were evaluated. METHODS: A mean of 1,150 malaria cases were referred to the Parasitology Laboratory of CGH each year over the last decade. During this period, malaria diagnostic (microscopy) and parasitaemia evaluation have remained unchanged: determination of the parasitized erythrocytes percentage with asexual forms on thin blood smears for all cases of parasitaemia exceeding 0.1%. Patients admitted to the ICU can be counted by origin of the request for malaria testing. All the data collected retrospectively were anonymized in a standardized case report form and in database. RESULTS: Between 2000 and 2010, 12,254 bouts of malaria were confirmed at the Parasitology Laboratory of CHG: P. vivax: 56.2%, P. falciparum: 39.5%, co-infection with both species: 3.4%, P. malariae: 0.9%. HP was observed in 262 cases, at a frequency of 4.9% for P. falciparum and only 0.041% for P. vivax, with no recorded cases for P. malariae. The need for intensive care was correlated with P. falciparum parasite load: 12.3% of cases for parasitaemia of 4-9%, 21.2% for parasitaemia 10-19%, 50% for parasitaemia 20-29% and 77.8% for parasitaemia ≥30% (n=9). The patient with the highest parasitaemia (75% infected erythrocytes with asexual form) presented a major concomitant lupus flare-up treated with corticoids. He survived without obvious sequelae. CONCLUSIONS: In French Guiana during bouts of malaria, HP was observed at a frequency of ~ 5% for P. falciparum and two orders of magnitude less frequent for P. vivax. HP is a severity criterion for falciparum malaria in this endemic area. However, two of the patients with HP ≥30% were not admitted to the ICU and sequel-free cure in malaria patients with 75% parasitaemia is, therefore, possible.
ISSN: 1475-2875

inserm-00780740
http://www.hal.inserm.fr/inserm-00780740
http://www.hal.inserm.fr/inserm-00780740/document
http://www.hal.inserm.fr/inserm-00780740/file/1475-2875-12-20.pdf
DOI : 10.1186/1475-2875-12-20

Éditeur(s) : HAL CCSD BioMed Central
Résumé : International audience
Background: Amelotin (AMTN) is an ameloblast-secreted protein that belongs to the secretory calcium-binding phosphoprotein (SCPP) family, which originated in early vertebrates. In rodents, AMTN is expressed during the maturation stage of amelogenesis only. This expression pattern strongly differs from the spatiotemporal expression of other ameloblast-secreted SCPPs, such as the enamel matrix proteins (EMPs). Furthermore, AMTN was characterized in rodents only. In this study, we applied various approaches, including in silico screening of databases, PCRs and transcriptome sequencing to characterize AMTN sequences in sauropsids and amphibians, and compared them to available mammalian and coelacanth sequences. Results: We showed that (i) AMTN is tooth (enamel) specific and underwent pseudogenization in toothless turtles and birds, and (ii) the AMTN structure changed during tetrapod evolution. To infer AMTN function, we studied spatiotemporal expression of AMTN during amelogenesis in a salamander and a lizard, and compared the results with available expression data from mouse. We found that AMTN is expressed throughout amelogenesis in non-mammalian tetrapods, in contrast to its expression limited to enamel maturation in rodents. Conclusions: Taken together our findings suggest that AMTN was primarily an EMP. Its functions were conserved in amphibians and sauropsids while a change occurred early in the mammalian lineage, modifying its expression pattern during amelogenesis and its gene structure. These changes likely led to a partial loss of AMTN function and could have a link with the emergence of prismatic enamel in mammals.
ISSN: 1471-2148

Droits : http://creativecommons.org/licenses/by/
hal-01212821
http://hal.upmc.fr/hal-01212821
http://hal.upmc.fr/hal-01212821/document
http://hal.upmc.fr/hal-01212821/file/s12862-015-0329-x.pdf
DOI : 10.1186/s12862-015-0329-x

Éditeur(s) : HAL CCSD BioMed Central
Résumé : International audience
BACKGROUND: The aim of this study was to evaluate the role of family history of cancer and personal history of other medical conditions in the aetiology of the oral cavity cancer in France. METHODS: We used data from 689 cases of oral cavity squamous cell carcinoma and 3481 controls included in a population-based case--control study, the ICARE study. Odds-ratios (ORs) associated with family history of cancer and personal medical conditions and their 95% confidence intervals (95% CI) were estimated by unconditional logistic regression and were adjusted for age, gender, area of residence, education, body mass index, tobacco smoking and alcohol drinking. RESULTS: Personal history of oral candidiasis was related to a significantly increased risk of oral cavity cancer (OR 5.0, 95% CI 2.1-12.1). History of head and neck cancers among the first-degree relatives was associated with an OR of 1.9 (95% CI 1.2-2.8). The risk increased with the number of first-degree relatives with head and neck cancer. CONCLUSION: A family history of head and neck cancer is a marker of an increased risk of oral cavity cancer and should be taken into account to target prevention efforts and screening. Further studies are needed to clarify the association between oral cavity cancer and personal history of candidiasis.
ISSN: 1471-2407

inserm-00913514
http://www.hal.inserm.fr/inserm-00913514
http://www.hal.inserm.fr/inserm-00913514/document
http://www.hal.inserm.fr/inserm-00913514/file/1471-2407-13-560.pdf
DOI : 10.1186/1471-2407-13-560

Éditeur(s) : HAL CCSD BioMed Central
Résumé : International audience
Background: The filamentous fungus Trichoderma reesei is the main industrial cellulolytic enzyme producer. Several strains have been developed in the past using random mutagenesis, and despite impressive performance enhancements, the pressure for low-cost cellulases has stimulated continuous research in the field. In this context, comparative study of the lower and higher producer strains obtained through random mutagenesis using systems biology tools (genome and transcriptome sequencing) can shed light on the mechanisms of cellulase production and help identify genes linked to performance. Previously, our group published comparative genome sequencing of the lower and higher producer strains NG 14 and RUT C30. In this follow-up work, we examine how these mutations affect phenotype as regards the transcriptome and cultivation behaviour. Results: We performed kinetic transcriptome analysis of the NG 14 and RUT C30 strains of early enzyme production induced by lactose using bioreactor cultivations close to an industrial cultivation regime. RUT C30 exhibited both earlier onset of protein production (3 h) and higher steady-state productivity. A rather small number of genes compared to previous studies were regulated (568), most of them being specific to the NG 14 strain (319). Clustering analysis highlighted similar behaviour for some functional categories and allowed us to distinguish between induction-related genes and productivity-related genes. Cross-comparison of our transcriptome data with previously identified mutations revealed that most genes from our dataset have not been mutated. Interestingly, the few mutated genes belong to the same clusters, suggesting that these clusters contain genes playing a role in strain performance. Conclusions: This is the first kinetic analysis of a transcriptomic study carried out under conditions approaching industrial ones with two related strains of T. reesei showing distinctive cultivation behaviour. Our study sheds some light on some of the events occurring in these strains following induction by lactose. The fact that few regulated genes have been affected by mutagenesis suggests that the induction mechanism is essentially intact compared to that for the wild-type isolate QM6a and might be engineered for further improvement of T. reesei. Genes from two specific clusters might be potential targets for such genetic engineering.
ISSN: 1754-6834

Droits : http://creativecommons.org/licenses/by/
hal-01112360
http://hal.upmc.fr/hal-01112360
http://hal.upmc.fr/hal-01112360/document
http://hal.upmc.fr/hal-01112360/file/Poggi-Parodi_2014_Kinetic.pdf
DOI : 10.1186/s13068-014-0173-z

Éditeur(s) : HAL CCSD BioMed Central
Résumé : International audience
Background - Pregnant women are a vulnerable population. Although regular follow-ups are recommended during pregnancy, not all pregnant women seek care. This pilot study wanted to assess whether the integration of data from administrative health information systems and socio-economic features allows identifying disparities in prenatal care trajectories.Methods - Prenatal care trajectories were extracted from the permanent sample of the French health insurance information system linked to the hospital discharge information system. The records of 2518 women who gave birth without complications in France in 2009 were analyzed. State sequence data analysis was performed to identify homogeneous groups of prenatal care trajectories. Socio-economic data were used to characterize their living environment.Results -We identified three groups of homogeneous prenatal care trajectories: (i) women with relatively high prenatal care consumption (~11 %), (ii) women with no prenatal care (~21 %), and (iii) women with an intermediate level of prenatal care (~66 %). Analysis of the socio-economic data demonstrated the association between disparities in prenatal care trajectories and the women’s living environment. Women with relatively high care consumption generally lived in socio-economically privileged areas (better education levels, employment status and housing conditions) compared with women with few or no prenatal care.Conclusions -Although ecological, our approach demonstrates that data from health administrative information systems could be used to describe prenatal care. However, more individual variables and an improvement of the data quality are needed to efficiently monitor the content and timing of prenatal care. Moreover, state sequence analysis, which was used in this context for the first time, proves to be an interesting approach to explore care trajectories. Finally, the integration of heterogeneous sources of data, including contextual information, might help identifying areas that require health promotion actions toward vulnerable populations, such as pregnant women.
ISSN: 1472-6963

hal-01169792
https://hal-univ-rennes1.archives-ouvertes.fr/hal-01169792
https://hal-univ-rennes1.archives-ouvertes.fr/hal-01169792/document
https://hal-univ-rennes1.archives-ouvertes.fr/hal-01169792/file/Mining%20care%20trajectories%20using%20health%20administrative.pdf
DOI : 10.1186/s12913-015-0857-5