Abstract:
:New genetic data has enabled scientists to re-examine the relationship between human genetic variation and 'race'. We review the results of genetic analyses that show that human genetic variation is geographically structured, in accord with historical patterns of gene flow and genetic drift. Analysis of many loci now yields reasonably accurate estimates of genetic similarity among individuals, rather than populations. Clustering of individuals is correlated with geographic origin or ancestry. These clusters are also correlated with some traditional concepts of race, but the correlations are imperfect because genetic variation tends to be distributed in a continuous, overlapping fashion among populations. Therefore, ancestry, or even race, may in some cases prove useful in the biomedical setting, but direct assessment of disease-related genetic variation will ultimately yield more accurate and beneficial information.
journal_name
Nat Genetjournal_title
Nature geneticsauthors
Jorde LB,Wooding SPdoi
10.1038/ng1435keywords:
subject
Has Abstractpub_date
2004-11-01 00:00:00pages
S28-33issue
11 Suppleissn
1061-4036issn
1546-1718pii
ng1435journal_volume
36pub_type
杂志文章相关文献
NATURE GENETICS文献大全abstract::Comparisons of chromosome X and the autosomes can illuminate differences in the histories of males and females as well as shed light on the forces of natural selection. We compared the patterns of variation in these parts of the genome using two datasets that we assembled for this study that are both genomic in scale....
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.303
更新日期:2009-01-01 00:00:00
abstract::The Escherichia coli gene recQ was identified as a RecF recombination pathway gene. The gene SGS1, encoding the only RecQ-like DNA helicase in Saccharomyces cerevisiae, was identified by mutations that suppress the top3 slow-growth phenotype. Relatively little is known about the function of Sgs1p because single mutati...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/83673
更新日期:2001-01-01 00:00:00
abstract::Sequence variation in human genes is largely confined to single-nucleotide polymorphisms (SNPs) and is valuable in tests of association with common diseases and pharmacogenetic traits. We performed a systematic and comprehensive survey of molecular variation to assess the nature, pattern and frequency of SNPs in 75 ca...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/10297
更新日期:1999-07-01 00:00:00
abstract::The global health impact of malaria is enormous, with an estimated 300-500 million clinical cases and 1 million annual deaths. In humans, initial susceptibility to infection with Plasmodium species, disease severity and ultimate outcome of malaria (self-healing or lethal) are under complex genetic control. Alleles ass...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1260
更新日期:2003-12-01 00:00:00
abstract::The genome sequence assembly of the highly heterozygous Ananas comosus and its varieties is an impressive technical achievement. The sequence opens the door to a greater understanding of pineapple morphology and evolution. ...
journal_title:Nature genetics
pub_type: 评论,杂志文章
doi:10.1038/ng.3450
更新日期:2015-12-01 00:00:00
abstract::Tumor suppressor genes on the X chromosome may skew the gender distribution of specific types of cancer. T-cell acute lymphoblastic leukemia (T-ALL) is an aggressive hematological malignancy with an increased incidence in males. In this study, we report the identification of inactivating mutations and deletions in the...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.542
更新日期:2010-04-01 00:00:00
abstract::Animal development is an extremely robust process resulting in stereotyped outcomes. Canalization is a design principle wherein developmental pathways are stabilized to increase phenotypic reproducibility. Recent revelations into microRNA (miRNA) function suggest that miRNAs act as key players in canalizing genetic pr...
journal_title:Nature genetics
pub_type: 杂志文章,评审
doi:10.1038/ng1803
更新日期:2006-06-01 00:00:00
abstract::Schwannomas are common peripheral nerve sheath tumors that can cause debilitating morbidities. We performed an integrative analysis to determine genomic aberrations common to sporadic schwannomas. Exome sequence analysis with validation by targeted DNA sequencing of 125 samples uncovered, in addition to expected NF2 d...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.3688
更新日期:2016-11-01 00:00:00
abstract::Global warming threatens many aspects of human life, for example, by reducing crop yields. Breeding heat-tolerant crops using genes conferring thermotolerance is a fundamental way to help deal with this challenge. Here we identify a major quantitative trait locus (QTL) for thermotolerance in African rice (Oryza glaber...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.3305
更新日期:2015-07-01 00:00:00
abstract::DNA methylation loss occurs frequently in cancer genomes, primarily within lamina-associated, late-replicating regions termed partially methylated domains (PMDs). We profiled 39 diverse primary tumors and 8 matched adjacent tissues using whole-genome bisulfite sequencing (WGBS) and analyzed them alongside 343 addition...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/s41588-018-0073-4
更新日期:2018-04-01 00:00:00
abstract::In the past decade, bioinformatics has become an integral part of research and development in the biomedical sciences. Bioinformatics now has an essential role both in deciphering genomic, transcriptomic and proteomic data generated by high-throughput experimental technologies and in organizing information gathered fr...
journal_title:Nature genetics
pub_type: 历史文章,杂志文章,评审
doi:10.1038/ng1109
更新日期:2003-03-01 00:00:00
abstract::Translocation events are frequent in cancer and may create chimeric fusions or 'regulatory rearrangements' that drive oncogene overexpression. Here we identify super-enhancer translocations that drive overexpression of the oncogenic transcription factor MYB as a recurrent theme in adenoid cystic carcinoma (ACC). Whole...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.3502
更新日期:2016-03-01 00:00:00
abstract::There is increasing evidence that epigenetic information can be inherited across generations in mammals, despite extensive reprogramming both in the gametes and in the early developing embryo. One corollary to this is that disrupting the establishment of epigenetic state in the gametes of a parent, as a result of hete...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng2031
更新日期:2007-05-01 00:00:00
abstract::Hypertriglyceridemia is a hallmark of many disorders, including metabolic syndrome, diabetes, atherosclerosis and obesity. A well-known cause is the deficiency of lipoprotein lipase (LPL), a key enzyme in plasma triglyceride hydrolysis. Mice carrying the combined lipase deficiency (cld) mutation show severe hypertrigl...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.2007.24
更新日期:2007-12-01 00:00:00
abstract::CASK is a multi-domain scaffolding protein that interacts with the transcription factor TBR1 and regulates expression of genes involved in cortical development such as RELN. Here we describe a previously unreported X-linked brain malformation syndrome caused by mutations of CASK. All five affected individuals with CAS...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.194
更新日期:2008-09-01 00:00:00
abstract::The lifespan of Caenorhabditis elegans is regulated by the insulin/insulin-like growth factor (IGF)-1 receptor homolog DAF-2, which signals through a conserved phosphatidylinositol 3-kinase (PI 3-kinase)/Akt pathway. Mutants in this pathway remain youthful and active much longer than normal animals and can live more t...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/88850
更新日期:2001-06-01 00:00:00
abstract::Atopic or immunoglobulin E (IgE)-mediated diseases include the common disorders of asthma, atopic dermatitis and allergic rhinitis. Chromosome 13q14 shows consistent linkage to atopy and the total serum IgE concentration. We previously identified association between total serum IgE levels and a novel 13q14 microsatell...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1166
更新日期:2003-06-01 00:00:00
abstract::Congenital myoclonus is a widespread neurologic disorder characterized by hyperexcitability, muscular spasticity and myoclonus associated with marked reduction in neural glycine binding sites. The recessive mouse mutation spastic (spa) is a prototype of inherited myoclonus. Here we show that defects in the gene encodi...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng0694-136
更新日期:1994-06-01 00:00:00
abstract::Despite advances in sequencing, the goal of obtaining a comprehensive view of genetic variation in populations is still far from reached. We sequenced 180 lines of A. thaliana from Sweden to obtain as complete a picture as possible of variation in a single region. Whereas simple polymorphisms in the unique portion of ...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.2678
更新日期:2013-08-01 00:00:00
abstract::Size at birth is an important determinant of perinatal survival and has also been associated with the risk for cardiovascular disease and type 2 diabetes in adult life. Common genetic variation that regulates fetal growth could therefore influence perinatal survival and predispose to the development of adult disease. ...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng0598-98
更新日期:1998-05-01 00:00:00
abstract::Human Menkes disease and the murine Mottled phenotype are X-linked diseases that result from copper deficiency due to mutations in a copper-effluxing ATPase, designated ATP7A. Male mice with the Mottled-Brindled allele (Mo-brJ) accumulate copper in the intestine, fail to export copper to peripheral organs and die a fe...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng0696-219
更新日期:1996-06-01 00:00:00
abstract::The genetic basis of most conditions characterized by congenital contractures is largely unknown. Here we show that mutations in the embryonic myosin heavy chain (MYH3) gene cause Freeman-Sheldon syndrome (FSS), one of the most severe multiple congenital contracture (that is, arthrogryposis) syndromes, and nearly one-...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1775
更新日期:2006-05-01 00:00:00
abstract::Thomsen's disease (autosomal dominant myotonia congenita) has recently been linked to chromosome 7q35 in the region of the human skeletal muscle chloride channel gene (HUMCLC). Single strand conformation polymorphism analysis (SSCP) was used to screen DNA from members of four unrelated pedigrees with this disorder for...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng0493-305
更新日期:1993-04-01 00:00:00
abstract::Elucidating how and to what extent CpG islands (CGIs) are methylated in germ cells is essential to understand genomic imprinting and epigenetic reprogramming. Here we present, to our knowledge, the first integrated epigenomic analysis of mammalian oocytes, identifying over a thousand CGIs methylated in mature oocytes....
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.864
更新日期:2011-06-26 00:00:00
abstract::Plants intimately associate with diverse bacteria. Plant-associated bacteria have ostensibly evolved genes that enable them to adapt to plant environments. However, the identities of such genes are mostly unknown, and their functions are poorly characterized. We sequenced 484 genomes of bacterial isolates from roots o...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/s41588-017-0012-9
更新日期:2017-12-18 00:00:00
abstract::Because only a small fraction of asbestos-exposed individuals develop malignant mesothelioma, and because mesothelioma clustering is observed in some families, we searched for genetic predisposing factors. We discovered germline mutations in the gene encoding BRCA1 associated protein-1 (BAP1) in two families with a hi...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.912
更新日期:2011-08-28 00:00:00
abstract::To identify genetic markers for laryngeal squamous cell carcinoma (LSCC), we conducted a genome-wide association study (GWAS) on 993 individuals with LSCC (cases) and 1,995 cancer-free controls from Chinese populations. The most promising variants (association P < 1 × 10(-5)) were then replicated in 3 independent sets...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.3090
更新日期:2014-10-01 00:00:00
abstract::Charting differences between tumors and normal tissue is a mainstay of cancer research. However, clonal tumor expansion from complex normal tissue architectures potentially obscures cancer-specific events, including divergent epigenetic patterns. Using whole-genome bisulfite sequencing of normal B cell subsets, we obs...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.3488
更新日期:2016-03-01 00:00:00
abstract::Age-related hearing loss (AHL) in common inbred mouse strains is a genetically complex quantitative trait. We found a synonymous single-nucleotide polymorphism in exon 7 of Cdh23 that shows significant association with AHL and the deafness modifier mdfw (modifer of deafwaddler). The hypomorphic Cdh23(753A) allele caus...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1226
更新日期:2003-09-01 00:00:00
abstract::Epilepsy affects at least 2% of the population at some time in their lives. The epilepsies are a heterogeneous group of disorders, many with an inherited component. Although specific genes have been identified in a few rare diseases causing seizures as part of a more diffuse brain disorder, the molecular pathology of ...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1095-201
更新日期:1995-10-01 00:00:00