DNA sequence variation in a non-coding region of low recombination on the human X chromosome.
Details
Serval ID
serval:BIB_29922FC4430E
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
DNA sequence variation in a non-coding region of low recombination on the human X chromosome.
Journal
Nature Genetics
ISSN
1061-4036 (Print)
ISSN-L
1061-4036
Publication state
Published
Issued date
1999
Volume
22
Number
1
Pages
78-81
Language
english
Notes
Publication types: Journal Article ; Research Support, Non-U.S. Gov't
Publication Status: ppublish
Publication Status: ppublish
Abstract
DNA sequence variation has become a major source of insight regarding the origin and history of our species as well as an important tool for the identification of allelic variants associated with disease. Comparative sequencing of DNA has to date focused mainly on mitochondrial (mt) DNA, which due to its apparent lack of recombination and high evolutionary rate lends itself well to the study of human evolution. These advantages also entail limitations. For example, the high mutation rate of mtDNA results in multiple substitutions that make phylogenetic analysis difficult and, because mtDNA is maternally inherited, it reflects only the history of females. For the history of males, the non-recombining part of the paternally inherited Y chromosome can be studied. The extent of variation on the Y chromosome is so low that variation at particular sites known to be polymorphic rather than entire sequences are typically determined. It is currently unclear how some forms of analysis (such as the coalescent) should be applied to such data. Furthermore, the lack of recombination means that selection at any locus affects all 59 Mb of DNA. To gauge the extent and pattern of point substitutional variation in non-coding parts of the human genome, we have sequenced 10 kb of non-coding DNA in a region of low recombination at Xq13.3. Analysis of this sequence in 69 individuals representing all major linguistic groups reveals the highest overall diversity in Africa, whereas deep divergences also exist in Asia. The time elapsed since the most recent common ancestor (MRCA) is 535,000+/-119,000 years. We expect this type of nuclear locus to provide more answers about the genetic origin and history of humans.
Keywords
Africa, Americas, Animals, Asia, Australia, DNA/chemistry, DNA/genetics, Europe, Evolution, Molecular, Genetic Variation, Gorilla gorilla, Humans, Male, Molecular Sequence Data, Pan troglodytes, Phylogeny, Polymorphism, Genetic, Recombination, Genetic, X Chromosome/genetics
DOI
Pubmed
Web of science
Create date
24/01/2008 15:41
Last modification date
20/08/2019 13:09