Abstract:
BACKGROUND:The N-acetyltransferase 2 (NAT2) gene plays a crucial role in the metabolism of many drugs and xenobiotics. As it represents a likely target of population-specific selection pressures, we fully sequenced the NAT2 coding region in 97 Mandenka individuals from Senegal, and compared these sequences to extant data on other African populations. The Mandenka data were further included in a worldwide dataset composed of 41 published population samples (6,727 individuals) from four continental regions that were adequately genotyped for all common NAT2 variants so as to provide further insights into the worldwide haplotype diversity and population structure at NAT2. RESULTS:The sequencing analysis of the NAT2 gene in the Mandenka sample revealed twelve polymorphic sites in the coding exon (two of which are newly identified mutations, C345T and C638T), defining 16 haplotypes. High diversity and no molecular signal of departure from neutrality were observed in this West African sample. On the basis of the worldwide genotyping survey dataset, we found a strong genetic structure differentiating East Asians from both Europeans and sub-Saharan Africans. This pattern could result from region- or population-specific selective pressures acting at this locus, as further suggested in the HapMap data by extremely high values of FST for a few SNPs positions in the NAT2 coding exon (T341C, C481T and A803G) in comparison to the empirical distribution of FST values accross the whole 400-kb region of the NAT gene family. CONCLUSION:Patterns of sequence variation at NAT2 are consistent with selective neutrality in all sub-Saharan African populations investigated, whereas the high level of population differentiation between Europeans and East Asians inferred from SNPs could suggest population-specific selective pressures acting at this locus, probably caused by differences in diet or exposure to other environmental signals.
journal_name
BMC Genetjournal_title
BMC geneticsauthors
Sabbagh A,Langaney A,Darlu P,Gérard N,Krishnamoorthy R,Poloni ESdoi
10.1186/1471-2156-9-21subject
Has Abstractpub_date
2008-02-27 00:00:00pages
21issn
1471-2156pii
1471-2156-9-21journal_volume
9pub_type
杂志文章相关文献
BMC GENETICS文献大全abstract:BACKGROUND:Given the abundance of new genomic projects and gene annotations, researchers trying to pinpoint causal genetic variants are faced with a challenging task of how to efficiently integrate all current genomic information. The objective of the study was to develop an approach to integrate various genomic annota...
journal_title:BMC genetics
pub_type: 杂志文章
doi:10.1186/s12863-016-0381-6
更新日期:2016-06-11 00:00:00
abstract:BACKGROUND:The Tnfrh1 gene (gene symbol Tnfrsf23) is located near one end of a megabase-scale imprinted region on mouse distal chromosome 7, about 350 kb distant from the nearest known imprinting control element. Within 20 kb of Tnfrh1 is a related gene called Tnfrh2 (Tnfrsf22) These duplicated genes encode putative de...
journal_title:BMC genetics
pub_type: 杂志文章
doi:10.1186/1471-2156-3-11
更新日期:2002-06-27 00:00:00
abstract::This study, part of the Genetic Analysis Workshop 14 (GAW14), explored real Collaborative Study on the Genetics of Alcoholism data for linkage and association mapping between genetic polymorphisms (microsatellite and single-nucleotide polymorphisms (SNPs)) and beta (16.5-20 Hz) oscillations of the brain rhythms (ecb21...
journal_title:BMC genetics
pub_type: 杂志文章
doi:10.1186/1471-2156-6-S1-S94
更新日期:2005-12-30 00:00:00
abstract:BACKGROUND:Grain zinc and iron concentration is a complex trait that is controlled by quantitative trait loci (QTL) and is important for maintaining body health. Despite the substantial effort that has been put into identifying QTL for grain zinc and iron concentration, the integration of independent QTL is useful for ...
journal_title:BMC genetics
pub_type: 杂志文章
doi:10.1186/s12863-015-0176-1
更新日期:2015-02-14 00:00:00
abstract:BACKGROUND:Phenotype error causes reduction in power to detect genetic association. We present a quantification of phenotype error, also known as diagnostic error, on power and sample size calculations for case-control genetic association studies between a marker locus and a disease phenotype. We consider the classic P...
journal_title:BMC genetics
pub_type: 杂志文章
doi:10.1186/1471-2156-6-18
更新日期:2005-04-08 00:00:00
abstract:BACKGROUND:G-protein subunit beta 1 like (GNB1L) encodes a G-protein beta-subunit-like polypeptide. Chicken GNB1L is upregulated in the breast muscle of high feed efficiency chickens, and its expression is 1.52-fold that in low feed efficiency chickens. However, no report has described the effects of GNB1L indels on th...
journal_title:BMC genetics
pub_type: 杂志文章
doi:10.1186/s12863-020-00900-z
更新日期:2020-08-26 00:00:00
abstract:BACKGROUND:Plant calmodulin-binding transcription activator (CAMTA) proteins play important roles in hormone signal transduction, developmental regulation, and environmental stress tolerance. However, in wheat, the CAMTA gene family has not been systematically characterized. RESULTS:In this work, 15 wheat CAMTA genes ...
journal_title:BMC genetics
pub_type: 杂志文章
doi:10.1186/s12863-020-00916-5
更新日期:2020-09-14 00:00:00
abstract:BACKGROUND:Arterial stiffness is an independent predictor of cardiovascular outcomes in hypertensive patients including myocardial infarction, fatal stroke, cerebral micro-bleeds which predicts cerebral hemorrhage in hypertensive patients, as well as progression to hypertension in non-hypertensive subjects. The associa...
journal_title:BMC genetics
pub_type: 杂志文章
doi:10.1186/s12863-015-0324-7
更新日期:2016-01-11 00:00:00
abstract:BACKGROUND:There have been inconsistent results from case-control studies assessing the association of the PON1 Q192R polymorphism with coronary heart disease (CHD). Most studies have included predominantly men and the association in women is unclear. Since lipid levels vary between the sexes the antioxidant effect of ...
journal_title:BMC genetics
pub_type: 杂志文章,meta分析,评审
doi:10.1186/1471-2156-5-17
更新日期:2004-06-23 00:00:00
abstract:BACKGROUND:The Gpnmb gene encodes a transmembrane protein whose function(s) remain largely unknown. Here, we assess if a mutant allele of Gpnmb confers susceptibility to glaucoma by altering immune functions. DBA/2J mice have a mutant Gpnmb gene and they develop a form of glaucoma preceded by a pigment dispersing iris ...
journal_title:BMC genetics
pub_type: 杂志文章
doi:10.1186/1471-2156-9-30
更新日期:2008-04-10 00:00:00
abstract:BACKGROUND:Retinal function is ordered by interactions between transcriptional and posttranscriptional regulators at the molecular level. These regulators include transcription factors (TFs) and posttranscriptional factors such as microRNAs (miRs). Some studies propose that miRs predominantly target the TFs rather than...
journal_title:BMC genetics
pub_type: 杂志文章
doi:10.1186/s12863-015-0201-4
更新日期:2015-04-24 00:00:00
abstract:BACKGROUND:MUC4 is a type of membrane anchored glycoprotein and serves as the major constituent of mucus that covers epithelial surfaces of many tissues such as trachea, colon and cervix. MUC4 plays important roles in the lubrication and protection of the surface epithelium, cell proliferation and differentiation, immu...
journal_title:BMC genetics
pub_type: 杂志文章
doi:10.1186/1471-2156-13-57
更新日期:2012-07-13 00:00:00
abstract:BACKGROUND:Genetic maps characterizing the inheritance patterns of traits and markers have been developed for a wide range of species and used to study questions in biomedicine, agriculture, ecology and evolutionary biology. The status of rainbow trout genetic maps has progressed significantly over the last decade due ...
journal_title:BMC genetics
pub_type: 杂志文章
doi:10.1186/1471-2156-9-74
更新日期:2008-11-19 00:00:00
abstract:BACKGROUND:Cytoplasmic effects on agronomic traits--involving cytoplasmic and nuclear genomes of either different species or different cultivars--are well documented in wheat but have seldom been demonstrated in rice (Oryza sativa L.). To detect cytoplasmic effects, we introgressed the nuclear genomes of three indica c...
journal_title:BMC genetics
pub_type: 杂志文章
doi:10.1186/1471-2156-12-53
更新日期:2011-06-01 00:00:00
abstract:BACKGROUND:Moths of genus Dendrolimus (Lepidoptera: Lasiocampidae) are among the major pests of coniferous forests worldwide. Taxonomy and nomenclature of this genus are not entirely established, and there are many species with a controversial taxonomic position. We present a comparative evolutionary analysis of the mo...
journal_title:BMC genetics
pub_type: 杂志文章
doi:10.1186/s12863-016-0463-5
更新日期:2016-12-22 00:00:00
abstract:BACKGROUND:The spotted-wing Drosophila (Drosophila suzukii) is a widespread invasive pest that causes severe economic damage to fruit crops. The early development of D. suzukii is similar to that of other Drosophilids, but the roles of individual genes must be confirmed experimentally. Cellularization genes coordinate ...
journal_title:BMC genetics
pub_type: 杂志文章
doi:10.1186/s12863-020-00939-y
更新日期:2020-12-18 00:00:00
abstract::We estimated the crossover frequency in 1,232 gametes from 356 subjects in pedigrees from the Collaborative Study on the Genetics on Alcoholism. We examined the effect of covariates including age, ethnicity, and years with ALDX1 on recombination rate, and found a positive correlation between recombination rate and yea...
journal_title:BMC genetics
pub_type: 杂志文章
doi:10.1186/1471-2156-6-S1-S58
更新日期:2005-12-30 00:00:00
abstract:BACKGROUND:Analyses of genetic data at the level of haplotypes provide increased accuracy and power to infer genotype-phenotype correlations and evolutionary history of a locus. However, empirical determination of haplotypes is expensive and laborious. Therefore, several methods of inferring haplotypes from unphased ge...
journal_title:BMC genetics
pub_type: 杂志文章
doi:10.1186/1471-2156-5-22
更新日期:2004-08-03 00:00:00
abstract:BACKGROUND:Grasslands in the Arctic tundra undergo irreversible degradation due to climatic changes and also over-exploitation and depletion of scarce resources. Comprehensive investigations of cytogenomic structures of valuable Arctic and sub-Arctic grassland species is essential for clarifying their genetic peculiari...
journal_title:BMC genetics
pub_type: 杂志文章
doi:10.1186/s12863-019-0792-2
更新日期:2019-12-04 00:00:00
abstract:BACKGROUND:Our initial genome-wide association study (GWAS) identified 20 promising candidate genes for milk fatty acid (FA) traits in a Chinese Holstein population, including PRLR, MOGAT1, MINPP1 and CHUK genes. In this study, we performed whether they had significant genetic effects on milk FA traits in Chinese Holst...
journal_title:BMC genetics
pub_type: 杂志文章
doi:10.1186/s12863-019-0769-1
更新日期:2019-08-16 00:00:00
abstract::Genetic epidemiologists have taken the challenge to identify genetic polymorphisms involved in the development of diseases. Many have collected data on large numbers of genetic markers but are not familiar with available methods to assess their association with complex diseases. Statistical methods have been developed...
journal_title:BMC genetics
pub_type: 社论
doi:10.1186/1471-2156-7-23
更新日期:2006-04-21 00:00:00
abstract:BACKGROUND:Sitosterolemia is a recessively inherited disorder in humans that is associated with premature atherosclerotic disease. Mutations in ABCG5 or ABCG8, comprising the sitosterolemia locus, STSL, are now known to cause this disease. Three in-bred strains of rats, WKY, SHR and SHRSP, are known to be sitosterolemi...
journal_title:BMC genetics
pub_type: 杂志文章
doi:10.1186/1471-2156-6-40
更新日期:2005-07-18 00:00:00
abstract:BACKGROUND:RNA sequencing (RNA-seq) technology has identified multiple differentially expressed (DE) genes associated to complex disease, however, these genes only explain a modest part of variance. Omnigenic model assumes that disease may be driven by genes with indirect relevance to disease and be propagated by funct...
journal_title:BMC genetics
pub_type: 杂志文章
doi:10.1186/s12863-019-0739-7
更新日期:2019-03-19 00:00:00
abstract:BACKGROUND:The Africanized honey bee is one of the most spectacular invasions in the Americas. African bees escaped from apiaries in Brazil in 1956, spread over Americas and by 1994 they were reported in Puerto Rico. In contrast to other places, the oceanic island conditions in Puerto Rico may mean a single introductio...
journal_title:BMC genetics
pub_type: 杂志文章
doi:10.1186/1471-2156-14-65
更新日期:2013-08-06 00:00:00
abstract:BACKGROUND:We analyzed 143 pedigrees (364 nuclear families) in the Collaborative Study on the Genetics of Alcoholism (COGA) data provided to the participants in the Genetic Analysis Workshop 14 (GAW14) with the goal of comparing results obtained from genome linkage analysis using microsatellite and with results obtaine...
journal_title:BMC genetics
pub_type: 杂志文章
doi:10.1186/1471-2156-6-S1-S4
更新日期:2005-12-30 00:00:00
abstract:BACKGROUND:Foxtail millet (Setaria italica) is a diploid C4 panicoid species. Because of its prominent drought resistance, small genome size, self-pollination, and short life cycle, foxtail millet has become an ideal model system for studying drought tolerance of crops. MicroRNAs (miRNAs) are endogenous, small RNAs tha...
journal_title:BMC genetics
pub_type: 杂志文章
doi:10.1186/s12863-016-0364-7
更新日期:2016-04-12 00:00:00
abstract:BACKGROUND:Genetic maps based on single-nucleotide polymorphisms (SNP) are increasingly being used as an alternative to microsatellite maps. This study compares linkage results for both types of maps for a neurophysiology phenotype and for an alcohol dependence phenotype. Our analysis used two SNP maps on the Illumina ...
journal_title:BMC genetics
pub_type: 杂志文章
doi:10.1186/1471-2156-6-S1-S122
更新日期:2005-12-30 00:00:00
abstract:BACKGROUND:In mice MEOX2/TCF15 heterodimers are highly expressed in heart endothelial cells and are involved in the transcriptional regulation of lipid transport. In a general population, we investigated whether genetic variation in these genes predicted coronary heart disease (CHD). RESULTS:In 2027 participants rando...
journal_title:BMC genetics
pub_type: 杂志文章
doi:10.1186/s12863-015-0272-2
更新日期:2015-10-01 00:00:00
abstract:BACKGROUND:mRNA expression in a cell or subcellular organelle is precisely regulated for the purpose of gene function regulation. The 3' untranslated region (3'UTR) of mRNA is the binding target of microRNA and RNA binding proteins. Their interactions regulate mRNA level in specific subcellular regions and determine th...
journal_title:BMC genetics
pub_type: 杂志文章
doi:10.1186/s12863-016-0417-y
更新日期:2016-07-29 00:00:00
abstract:BACKGROUND:We previously conducted a genome-wide association study (GWAS) strategy for milk fatty acids in Chinese Holstein, and identified 83 genome-wide significant single nucleotide polymorphisms (SNPs) and 314 suggestive significant SNPs. Among them, two SNPs, BTB-01077939 and BTA-11275-no-rs associated with C10:0,...
journal_title:BMC genetics
pub_type: 杂志文章
doi:10.1186/s12863-019-0755-7
更新日期:2019-07-03 00:00:00