Linked Life Data

14963100

Source:http://linkedlifedata.com/resource/pubmed/id/14963100

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
2004-3-23
pubmed:abstractText
The human scavenger receptor class B type I (SR-BI and splice variant SR-BII) plays a central role in HDL cholesterol metabolism and represents a candidate gene for a number of related diseases. We examined the genetic diversity of its coding and flanking regions in a sample of 178 chromosomes from individuals of European, African, East Asian (including Southeast Asian), Middle-Eastern as well as Amerindian descent. Nine of the 14 polymorphisms observed are new. Four of the five variants causing amino acid replacements, G2S, S229G, R484W, and G499R, are likely to affect protein structure and function. SR-BI/BII diversity is partitioned among 19 haplotypes; all but one interconnected by single mutation or a recombination event. Such tight haplotype network and the unusual geographic partitioning of this diversity, high not only in Africa but in East Asia as well, suggests its recent origin and possible effect of selection. Coalescent analysis infers a relatively short time to the most recent common ancestor and points to population expansion in Africa and East Asia. These two continents differ significantly in pairwise F(ST) values, differing as well from a single cluster formed by Europe, Middle East and America. In the context of findings for similarly analyzed other loci, we propose that a selective sweep at the origin of modern human populations could explain the low level of ancestral SR-BI/II diversity. The unusually deep split between Africa and Asia, well beyond the Upper Paleolithic when inferred under neutrality, is consistent with subsequent geographical and demographic expansion favoring the accumulation of new variants, especially in groups characterized by large effective population sizes, such as Asians and Africans. The relevance of such partitioning of SR-BI/II diversity remains to be investigated in genetic epidemiological studies which can be guided by the present findings.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Apr
pubmed:issn
0737-4038
pubmed:author
pubmed:issnType
Print
pubmed:volume
21
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
760-9
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed-meshheading:14963100-Antigens, CD36, pubmed-meshheading:14963100-DNA Fingerprinting, pubmed-meshheading:14963100-Evolution, Molecular, pubmed-meshheading:14963100-Gene Frequency, pubmed-meshheading:14963100-Genetics, Population, pubmed-meshheading:14963100-Geography, pubmed-meshheading:14963100-Haplotypes, pubmed-meshheading:14963100-Humans, pubmed-meshheading:14963100-Lysosome-Associated Membrane Glycoproteins, pubmed-meshheading:14963100-Membrane Proteins, pubmed-meshheading:14963100-Mutation, pubmed-meshheading:14963100-Polymorphism, Genetic, pubmed-meshheading:14963100-Receptors, Immunologic, pubmed-meshheading:14963100-Receptors, Scavenger, pubmed-meshheading:14963100-Scavenger Receptors, Class B, pubmed-meshheading:14963100-Sequence Alignment, pubmed-meshheading:14963100-Sequence Analysis, DNA, pubmed-meshheading:14963100-Sialoglycoproteins
pubmed:year
2004
pubmed:articleTitle
Genetic diversity patterns in the SR-BI/II locus can be explained by a recent selective sweep.
pubmed:affiliation
Centre de Recherche, Hôpital Sainte-Justine, Montréal, Quebec, Canada.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't