Details

Autor(en) / Beteiligte

• Page, David C
• Repping, Sjoerd
• Skaletsky, Helen
• Brown, Laura
• van Daalen, Saskia K M
• Korver, Cindy M
• Pyntikova, Tatyana
• Kuroda-Kawaguchi, Tomoko
• de Vries, Jan W A
• Oates, Robert D
• Silber, Sherman
• van der Veen, Fulco
• Rozen, Steve

Titel

Polymorphism for a 1.6-Mb deletion of the human Y chromosome persists through balance between recurrent mutation and haploid selection

Ist Teil von

• Nature genetics, 2003-11, Vol.35 (3), p.247-251

Ort / Verlag

United States: Nature Publishing Group

Erscheinungsjahr

2003

Link zum Volltext

Quelle

MEDLINE

Beschreibungen/Notizen

• Many human Y-chromosomal deletions are thought to severely impair reproductive fitness, which precludes their transmission to the next generation and thus ensures their rarity in the population. Here we report a 1.6-Mb deletion that persists over generations and is sufficiently common to be considered a polymorphism. We hypothesized that this deletion might affect spermatogenesis because it removes almost half of the Y chromosome's AZFc region, a gene-rich segment that is critical for sperm production. An association study established that this deletion, called gr/gr, is a significant risk factor for spermatogenic failure. The gr/gr deletion has far lower penetrance with respect to spermatogenic failure than previously characterized Y-chromosomal deletions; it is often transmitted from father to son. By studying the distribution of gr/gr-deleted chromosomes across the branches of the Y chromosome's genealogical tree, we determined that this deletion arose independently at least 14 times in human history. We suggest that the existence of this deletion as a polymorphism reflects a balance between haploid selection, which culls gr/gr-deleted Y chromosomes from the population, and homologous recombination, which continues to generate new gr/gr deletions.