NDLI: DNA sequence variation among humans and apes (abstract only)

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DNA sequence variation among humans and apes (abstract only)

Content Provider	ACM Digital Library
Author	Winkler, Michaela Wiebe, Victor Ebersberger, Ingo Erlandsson, Rikard Wilson, Jim F. Kaessmann, Henrik Schwarz, Carsten Pääbo, Svante
Abstract	In order to shed light on the rate and mode of evolution of DNA sequence evolution in the germ line of humans and chimpanzees, we have sequenced 136 kb around the human ZFY gene as well as a total of 180 kb of genomic DNA surrounding the ZFX and ZFY genes on the chimpanzee X and Y chromosome, respectively. The comparison of the orthologous sequences on the human and chimpanzee sex chromosomes show that whereas the ZFX region display 0.8% substitutional differences between the two species, the ZFY region display 1.5% differences. By contrast, insertions and deletions show no difference between the two regions. Interestingly, transversions show a much more drastic preponderance in the male germ line than transitions, and the insertion of retroviral-like elements seem to occur more frequently in the male than in the female germ line.While data on nucleotide sequence variation in the human nuclear genome have begun to accumulate through comparative sequencing projects at several diseases-associated genes, little is known about genomic variation in non-coding parts of the human genome and practically nothing about the variation in chimpanzee genome. In order to begin to gauge the extent and pattern of point substitutional variation in the non-transcribed parts of the human genome, we have sequenced 10 kb of non-coding DNA in a region of low recombination at Xq13.3 from 70 humans representing all major language groups of the world. In addition, the same sequence has been determined from 30 chimpanzees, representing all major subspecies, as well as bonobos. Comparison to humans reveals an almost four-fold higher diversity and a three-fold greater age of the most recent common ancestor of the chimpanzee sequences. Phylogenetic analyses show the sequences from the different chimpanzee subspecies to be intermixed and the distance between some chimpanzee sequences to be greater than the distance between them and the bonobo sequences. These data, as well as preliminary work in the other great apes, indicate that the human genome is unique in carrying extremely little nucleotide diversity.
File Format	PDF
ISBN	1581131860
DOI	10.1145/332306.332365
Language	English
Publisher	Association for Computing Machinery (ACM)
Publisher Date	2000-04-08
Publisher Place	New York
Access Restriction	Subscribed
Content Type	Text
Resource Type	Article

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