Journal Title
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Abbravation: Journal of Human Genetics
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Publisher
Nature Publishing Group
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Authors: Cláudia Márcia Benedetto de Carvalho Luciana Werneck Zuccherato Masato Fujisawa Toshiro Shirakawa Andrea Kely Campos RibeirodosSantos Sidney E B Santos Sérgio Danilo Junho Pena Fabrício Rodrigues Santos
Publish Date: 2006/09
Volume: 51, Issue: 9, Pages: 794-
Abstract
Thank you for visiting naturecom You are using a browser version with limited support for CSS To obtain the best experience we recommend you use a more up to date browser or turn off compatibility mode in Internet Explorer In the meantime to ensure continued support we are displaying the site without styles and JavaScriptA recurrent partial azoospermia factor C AZFc deletion called gr/gr has been reported to be a male infertility risk factor A specific type of Y chromosome observed in approximately 30 of Japanese males haplogroup D derived at YAP+ is believed to have a fixed gr/gr deletion A recent study claimed that spermatogenic failure is more likely in males with D Y chromosomes because of the gr/gr deletion the presence of which is not well characterized among D haplogroup chromosomes We therefore decided to perform a systematic study of the frequency of the gr/gr deletion in the Japanese We studied fertile and infertile males to investigate the possibility of different gr/gr frequencies The deletions were detected by use of single taggedsequences STSs and the D haplogroup sublineages typing were done by use of the biallelic markers M174 M64 M1161 12f22 M15 M151 and M125 Analysis of gr/gr deleted Y chromosomes showed that all are classified as haplogroup D2 suggesting a lineage association The subtype D2b1 was most frequent among the Japanese in control and infertile samples The haplogroups D2b2 D and D1 were not found in any population group Remarkably we observed no statistical difference between haplogroup D sublineages of the infertile and control groups although the statistical power of this study is low This study suggests lack of significant evidence of increased infertility risk in haplogroup D Japanese males We were also able to establish the ancestral chromosome that suffered a gr/gr deletion and propose a new Y chromosome phylogeny for haplogroup D and its derivatives In summary we were able to define the frequency of gr/gr deletion in Japanese males and show that the gr/gr deletion was probably present in the ancestral Y chromosome that entered Japan at least 12000 years ago
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