Matches in SemOpenAlex for { <https://semopenalex.org/work/W3103236670> ?p ?o ?g. }
- W3103236670 abstract "Abstract Due to its highly repetitive nature, the human male-specific Y chromosome remains understudied. It is important to investigate variation on the Y chromosome to understand its evolution and contribution to phenotypic variation, including infertility. Approximately 20% of the human Y chromosome consists of ampliconic regions which include nine multi-copy gene families. These gene families are expressed exclusively in testes and usually implicated in spermatogenesis. Here, to gain a better understanding of the role of the Y chromosome in human evolution and in determining sexually dimorphic traits, we studied ampliconic gene copy number variation in 100 males representing ten major Y haplogroups world-wide. Copy number was estimated with droplet digital PCR. In contrast to low nucleotide diversity observed on the Y in previous studies, here we show that ampliconic gene copy number diversity is very high. A total of 98 copy-number-based haplotypes were observed among 100 individuals, and haplotypes were sometimes shared by males from very different haplogroups, suggesting homoplasies. The resulting haplotypes did not cluster according to major Y haplogroups. Overall, only three gene families ( DATZ, RBMY, TSPY ) showed significant differences in copy number among major Y haplogroups, and the haplogroup of an individual could not be predicted based on his ampliconic gene copy numbers. Finally, we found a significant correlation between copy number variation and individual’s height (for three gene families), but not between the former and facial masculinity/femininity. Our results suggest rapid evolution of ampliconic gene copy numbers on the human Y, and we discuss its causes." @default.
- W3103236670 created "2020-11-23" @default.
- W3103236670 creator A5023306345 @default.
- W3103236670 creator A5030375342 @default.
- W3103236670 creator A5034595016 @default.
- W3103236670 creator A5042289737 @default.
- W3103236670 creator A5047748699 @default.
- W3103236670 creator A5066801964 @default.
- W3103236670 creator A5086100584 @default.
- W3103236670 date "2017-12-07" @default.
- W3103236670 modified "2023-09-24" @default.
- W3103236670 title "High levels of copy number variation of ampliconic genes across major human Y haplogroups" @default.
- W3103236670 cites W1513618424 @default.
- W3103236670 cites W1516646446 @default.
- W3103236670 cites W1559297138 @default.
- W3103236670 cites W1967470558 @default.
- W3103236670 cites W1981911718 @default.
- W3103236670 cites W1983300728 @default.
- W3103236670 cites W1993038942 @default.
- W3103236670 cites W1996835973 @default.
- W3103236670 cites W2011099053 @default.
- W3103236670 cites W2021119954 @default.
- W3103236670 cites W2021998028 @default.
- W3103236670 cites W2022576391 @default.
- W3103236670 cites W2027318023 @default.
- W3103236670 cites W2034632143 @default.
- W3103236670 cites W2034781061 @default.
- W3103236670 cites W2035752228 @default.
- W3103236670 cites W2043304289 @default.
- W3103236670 cites W2050318259 @default.
- W3103236670 cites W2058770491 @default.
- W3103236670 cites W2062848785 @default.
- W3103236670 cites W2064543601 @default.
- W3103236670 cites W2066043145 @default.
- W3103236670 cites W2070590269 @default.
- W3103236670 cites W2071552652 @default.
- W3103236670 cites W2072310270 @default.
- W3103236670 cites W2076079214 @default.
- W3103236670 cites W2078075583 @default.
- W3103236670 cites W2084321048 @default.
- W3103236670 cites W2086015868 @default.
- W3103236670 cites W2089920619 @default.
- W3103236670 cites W2098198038 @default.
- W3103236670 cites W2099085143 @default.
- W3103236670 cites W2100819216 @default.
- W3103236670 cites W2102260873 @default.
- W3103236670 cites W2106831308 @default.
- W3103236670 cites W2113559596 @default.
- W3103236670 cites W2113773171 @default.
- W3103236670 cites W2114762781 @default.
- W3103236670 cites W2119652557 @default.
- W3103236670 cites W2122606427 @default.
- W3103236670 cites W2132839921 @default.
- W3103236670 cites W2134781509 @default.
- W3103236670 cites W2139852278 @default.
- W3103236670 cites W2140276652 @default.
- W3103236670 cites W2142173806 @default.
- W3103236670 cites W2143427980 @default.
- W3103236670 cites W2145359428 @default.
- W3103236670 cites W2146280921 @default.
- W3103236670 cites W2149751230 @default.
- W3103236670 cites W2151409320 @default.
- W3103236670 cites W2155496693 @default.
- W3103236670 cites W2169580995 @default.
- W3103236670 cites W2172226817 @default.
- W3103236670 cites W2172299121 @default.
- W3103236670 cites W2191776365 @default.
- W3103236670 cites W2211493026 @default.
- W3103236670 cites W2279744393 @default.
- W3103236670 cites W2311203695 @default.
- W3103236670 cites W2324342661 @default.
- W3103236670 cites W2460270903 @default.
- W3103236670 cites W2490323466 @default.
- W3103236670 cites W2518932456 @default.
- W3103236670 cites W2591365011 @default.
- W3103236670 cites W2748478565 @default.
- W3103236670 cites W4235785872 @default.
- W3103236670 cites W4241861718 @default.
- W3103236670 cites W4246012942 @default.
- W3103236670 cites W4250147287 @default.
- W3103236670 doi "https://doi.org/10.1101/230342" @default.
- W3103236670 hasPublicationYear "2017" @default.
- W3103236670 type Work @default.
- W3103236670 sameAs 3103236670 @default.
- W3103236670 citedByCount "1" @default.
- W3103236670 countsByYear W31032366702023 @default.
- W3103236670 crossrefType "posted-content" @default.
- W3103236670 hasAuthorship W3103236670A5023306345 @default.
- W3103236670 hasAuthorship W3103236670A5030375342 @default.
- W3103236670 hasAuthorship W3103236670A5034595016 @default.
- W3103236670 hasAuthorship W3103236670A5042289737 @default.
- W3103236670 hasAuthorship W3103236670A5047748699 @default.
- W3103236670 hasAuthorship W3103236670A5066801964 @default.
- W3103236670 hasAuthorship W3103236670A5086100584 @default.
- W3103236670 hasBestOaLocation W31032366701 @default.
- W3103236670 hasConcept C104317684 @default.
- W3103236670 hasConcept C120821319 @default.
- W3103236670 hasConcept C121332964 @default.
- W3103236670 hasConcept C141231307 @default.
- W3103236670 hasConcept C180754005 @default.