Article
Emergence of a Homo sapiens-specific gene family and chromosome 16p11.2 CNV susceptibility.
Nature - 11 Aug 2016
Nuttle Xander, Giannuzzi Giuliana, Duyzend Michael H, Schraiber Joshua G, Narvaiza Iñigo, Sudmant Peter H, Penn Osnat, Chiatante Giorgia, Malig Maika, Huddleston John, Benner Chris, Camponeschi Francesca, Ciofi-Baffoni Simone, Stessman Holly A F, Marchetto Maria C N, Denman Laura, Harshman Lana, Baker Carl, Raja Archana, Penewit Kelsi, Janke Nicolette, Tang W Joyce, Ventura Mario, Banci Lucia, Antonacci Francesca, Akey Joshua M, Amemiya Chris T, Gage Fred H, Reymond Alexandre, Eichler Evan E
Abstract excerpt
Genetic differences that specify unique aspects of human evolution have typically been identified by comparative analyses between the genomes of humans and closely related primates, including more recently the genomes of archaic hominins. Not all regions of the genome, however, are equally amenable to such study. Recurrent copy number variation (CNV) at chromosome 16p11.2 accounts for approximately 1% of cases of...
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