Study of AZFc partial deletion gr/gr in fertile and infertile Japanese males.
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.
de Carvalho
Cláudia Márcia Benedetto
CMB
Departamento de Bioquímica e Imunologia, Universidade Federal de Minas Gerais, Belo Horizonte, MG, Brazil.
Zuccherato
Luciana Werneck
LW
Departamento de Bioquímica e Imunologia, Universidade Federal de Minas Gerais, Belo Horizonte, MG, Brazil.
Fujisawa
Masato
M
Kobe University Graduate School of Medicine, Kobe, Japan.
Shirakawa
Toshiro
T
Kobe University Graduate School of Medicine, Kobe, Japan.
Ribeiro-Dos-Santos
Andrea Kely Campos
AKC
Universidade Federal do Pará, Belém, PA, Brazil.
Santos
Sidney E B
SEB
Universidade Federal do Pará, Belém, PA, Brazil.
Pena
Sérgio Danilo Junho
SDJ
Departamento de Bioquímica e Imunologia, Universidade Federal de Minas Gerais, Belo Horizonte, MG, Brazil.
Santos
Fabrício Rodrigues
FR
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.
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
D029589:Seminal Plasma Proteins