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Population genetic implications from sequence variation in four Y chromosome genes.
| Content Provider | Semantic Scholar |
|---|---|
| Author | Shen, Peidong Wang, Fengqing Franco, Cláudia Tereza Signori Yang, Won Ho Roxas, Adriane Sung, Raphael K. Cavalli-Sforza, Luigi Luca |
| Copyright Year | 2000 |
| Abstract | Some insight into human evolution has been gained from the sequencing of four Y chromosome genes. Primary genomic sequencing determined gene SMCY to be composed of 27 exons that comprise 4,620 bp of coding sequence. The unfinished sequencing of the 5' portion of gene UTY1 was completed by primer walking, and a total of 20 exons were found. By using denaturing HPLC, these two genes, as well as DBY and DFFRY, were screened for polymorphic sites in 53-72 representatives of the five continents. A total of 98 variants were found, yielding nucleotide diversity estimates of 2.45 x 10(-5), 5. 07 x 10(-5), and 8.54 x 10(-5) for the coding regions of SMCY, DFFRY, and UTY1, respectively, with no variant having been observed in DBY. In agreement with most autosomal genes, diversity estimates for the noncoding regions were about 2- to 3-fold higher and ranged from 9. 16 x 10(-5) to 14.2 x 10(-5) for the four genes. Analysis of the frequencies of derived alleles for all four genes showed that they more closely fit the expectation of a Luria-Delbrück distribution than a distribution expected under a constant population size model, providing evidence for exponential population growth. Pairwise nucleotide mismatch distributions date the occurrence of population expansion to approximately 28,000 years ago. This estimate is in accord with the spread of Aurignacian technology and the disappearance of the Neanderthals. |
| File Format | PDF HTM / HTML |
| Alternate Webpage(s) | http://www.pnas.org/content/97/13/7354.full.pdf |
| PubMed reference number | 10861003v1 |
| Volume Number | 97 |
| Issue Number | 13 |
| Journal | Proceedings of the National Academy of Sciences of the United States of America |
| Language | English |
| Access Restriction | Open |
| Subject Keyword | Alleles Biopolymer Sequencing Congenital chromosomal disease DDX3Y gene Estimated Exons KDM5D gene Neanderthals Nucleotides Open Reading Frames Population Growth USP9Y gene UTY gene Variation (Genetics) Y Chromosome exponential |
| Content Type | Text |
| Resource Type | Article |
