Bibliographic Details
| Title: |
High mutation rates have driven extensive structural polymorphism among human Y chromosomes. |
| Authors: |
Repping, Sjoerd1,2, van Daalen, Saskia K. M.2, Brown, Laura G.1, Korver, Cindy M2, Lange, Julian1, Marszalek, Janet D.1, Pyntikova, Tatyana1, van der Veen, Fulco2, Skaletsky, Helen1, Page, David C.1 page_admin@wi.mit.edu, Rozen, Steve1 |
| Source: |
Nature Genetics. Apr2006, Vol. 38 Issue 4, p463-467. 5p. 2 Color Photographs, 2 Diagrams, 1 Graph. |
| Subject Terms: |
*GENETIC mutation, *ISOHORMONES, *GENOMES, *GENETICS, *HUMAN gene mapping, *GENEALOGY |
| Abstract: |
Although much structural polymorphism in the human genome has been catalogued, the kinetics of underlying change remain largely unexplored. Because human Y chromosomes are clonally inherited, it has been possible to capture their detailed relationships in a robust, worldwide genealogical tree. Examination of structural variation across this tree opens avenues for investigating rates of underlying mutations. We selected one Y chromosome from each of 47 branches of this tree and searched for large-scale variation. Four chromosomal regions showed extensive variation resulting from numerous large-scale mutations. Within the tree encompassed by the studied chromosomes, the distal-Yq heterochromatin changed length ≥12 times, the TSPY gene array changed length ≥23 times, the 3.6-Mb IR3/IR3 region changed orientation ≥12 times and the AZFc region was rearranged ≥20 times. After determining the total time spanned by all branches of this tree (∼1.3 million years or 52,000 generations), we converted these mutation counts to lower bounds on rates: ≥2.3 × 10−4, ≥4.4 × 10−4, ≥2.3 × 10−4 and ≥3.8 × 10−4 large-scale mutations per father-to-son Y transmission, respectively. Thus, high mutation rates have driven extensive structural polymorphism among human Y chromosomes. At the same time, we found limited variation in the copy number of Y-linked genes, which raises the possibility of selective constraints. [ABSTRACT FROM AUTHOR] |
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| Database: |
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