Article
Characterizing the evolution and phenotypic impact of ampliconic Y chromosome regions.
Nature communications - 6 Jul 2023
Lucotte Elise A, Guðmundsdóttir Valdís Björt, Jensen Jacob M, Skov Laurits, Macià Moisès Coll, Almstrup Kristian, Schierup Mikkel H, Helgason Agnar, Stefansson Kari
Abstract excerpt
A major part of the human Y chromosome consists of palindromes with multiple copies of genes primarily expressed in testis, many of which have been claimed to affect male fertility. Here we examine copy number variation in these palindromes based on whole genome sequence data from 11,527 Icelandic men. Using a subset of 7947 men grouped into 1449 patrilineal genealogies, we infer 57 large scale de novo copy...
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