ArticleJournal of human genetics2006
Study of AZFc partial deletion gr/gr in fertile and infertile Japanese males.
Article in Journal of human genetics, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers, 1 of them a synthesis that pooled it.
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Who cites it
26 citing papers in PubMed, 1 synthesis or guideline pooled it, 63 citations in OpenAlex.
- Gr/gr deletions on Y-chromosome correlate with male infertility: an original study, meta-analyses, and trial sequential analyses.Scientific reports · 2016Pooled it
- Evolution of the Japanese Y chromosome by analysis of the haplogroups and the deletion of the gene in the AZFc region.Human genetics · 2025Article
- Article
- Detection of AZFc gene deletion in a cohort of Egyptian patients with idiopathic male infertility.Journal, genetic engineering & biotechnology · 2023Article
- Article
- Partial-AZFc deletions in Chilean men with primary spermatogenic impairment: gene dosage and Y-chromosome haplogroups.Journal of assisted reproduction and genetics · 2020Article
- Do partial AZFc deletions affect the sperm retrieval rate in non-mosaic Klinefelter patients undergoing microdissection testicular sperm extraction?BMC urology · 2020Article
- High frequencies of Non Allelic Homologous Recombination (NAHR) events at the AZF loci and male infertility risk in Indian men.Scientific reports · 2019Article
- Spermatogenic failure and the Y chromosome.Human genetics · 2017Review
- Susceptibility of gr/gr rearrangements to azoospermia or oligozoospermia is dependent on DAZ and CDY1 gene copy deletions.Journal of assisted reproduction and genetics · 2015Article
- Multiplex PCR based screening for micro/partial deletions in the AZF region of Y-chromosome in severe oligozoospermic and azoospermic infertile men in Iran.Iranian journal of reproductive medicine · 2015Article
- Common AZFc structure may possess the optimal spermatogenesis efficiency relative to the rearranged structures mediated by non-allele homologous recombination.Scientific reports · 2015Article
- Copy-number variations in Y-chromosomal azoospermia factor regions identified by multiplex ligation-dependent probe amplification.Journal of human genetics · 2015Article
- A multi-faceted approach to understanding male infertility: gene mutations, molecular defects and assisted reproductive techniques (ART).Journal of assisted reproduction and genetics · 2014Review
- Impaired spermatogenesis and gr/gr deletions related to Y chromosome haplogroups in Korean men.PloS one · 2012Article
- Structural variation of the human genome: mechanisms, assays, and role in male infertility.Systems biology in reproductive medicine · 2011Review
- Azoospermia factor and male infertility.Reproductive medicine and biology · 2010Review
- Screening for Y-chromosome microdeletions in a population of infertile males in the Gaza Strip.Journal of experimental & clinical assisted reproduction · 2009Article
- Partial AZFc deletions and duplications: clinical correlates in the Italian population.Human genetics · 2008Article
- Partial deletions are associated with an increased risk of complete deletion in AZFc: a new insight into the role of partial AZFc deletions in male infertility.Journal of medical genetics · 2007Article
Corrections and comments
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Authors and funding
8 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
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.
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