title: Study of AZFc partial deletion gr/gr in fertile and infertile Japanese males.
abstract: A 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 tagged-sequences (STSs) and the D haplogroup sub-lineages typing were done by use of the biallelic markers M174, M64, M116.1, 12f2.2, 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 sub-lineages 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 12,000 years ago.
authors.affiliation: Departamento de Bioquímica e Imunologia, Universidade Federal de Minas Gerais, Belo Horizonte, MG, Brazil.
authors.forename: Cláudia Márcia Benedetto
authors.initials: CMB
authors.lastname: de Carvalho
authors.affiliation: Departamento de Bioquímica e Imunologia, Universidade Federal de Minas Gerais, Belo Horizonte, MG, Brazil.
authors.forename: Luciana Werneck
authors.initials: LW
authors.lastname: Zuccherato
authors.affiliation: Kobe University Graduate School of Medicine, Kobe, Japan.
authors.forename: Masato
authors.initials: M
authors.lastname: Fujisawa
authors.affiliation: Kobe University Graduate School of Medicine, Kobe, Japan.
authors.forename: Toshiro
authors.initials: T
authors.lastname: Shirakawa
authors.affiliation: Universidade Federal do Pará, Belém, PA, Brazil.
authors.forename: Andrea Kely Campos
authors.initials: AKC
authors.lastname: Ribeiro-Dos-Santos
authors.affiliation: Universidade Federal do Pará, Belém, PA, Brazil.
authors.forename: Sidney E B
authors.initials: SEB
authors.lastname: Santos
authors.affiliation: Departamento de Bioquímica e Imunologia, Universidade Federal de Minas Gerais, Belo Horizonte, MG, Brazil.
authors.forename: Sérgio Danilo Junho
authors.initials: SDJ
authors.lastname: Pena
authors.affiliation: Departamento de Biologia Geral, ICB, UFMG, Universidade Federal de Minas Gerais, C.P. 486, Av. Antônio Carlos 6627, 31270-010, Belo Horizonte, MG, Brazil. fsantos@icb.ufmg.br.
authors.forename: Fabrício Rodrigues
authors.initials: FR
authors.lastname: Santos
mesh_terms: D044466:Asian People / Q000235:genetics; D016022:Case-Control Studies; D041322:Chromosomes, Human, Y / Q000235:genetics; D056426:Genetic Loci; D006239:Haplotypes; D006801:Humans; D007248:Infertility, Male / Q000235:genetics*; D007564:Japan; D008297:Male; D009845:Oligospermia / Q000235:genetics; D029589:Seminal Plasma Proteins / Q000235:genetics*; D017384:Sequence Deletion
chemical_list: D029589:Seminal Plasma Proteins