ArticleHuman genetics2010
A biopsy sample reduction approach to identify significant alterations of the testicular transcriptome in the presence of Y-chromosomal microdeletions that are independent of germ cell composition.
Article in Human genetics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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Who cites it
3 citing papers in PubMed, 15 citations in OpenAlex.
- Application of single-cell RNA sequencing on human testicular samples: a comprehensive review.International journal of biological sciences · 2023Review
- Aberrant Gene Expression Profiling in Men With Sertoli Cell-Only Syndrome.Frontiers in immunology · 2022Article
- Deletion or underexpression of the Y-chromosome genes CDY2 and HSFY is associated with maturation arrest in American men with nonobstructive azoospermia.Asian journal of andrology · 2012Article
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Authors and funding
4 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Y-chromosomal microdeletions (YCMD) are the major genetic cause of male infertility. To date, it is not known which global changes are induced by the presence of AZFc or AZFb+c deletions in the human testicular transcriptome. We investigated this question by microarray analysis in which we had to eliminate the 'germ cell effect', i.e., the dominating effect of germ cell transcripts due to the quantitative difference in germ cell composition in samples with/without YCMD. This problem was tackled by selecting 26 samples from an initial cohort of 34 samples by their homogeneity in respect to cellular composition as obtained from gene expression clustering. This way, the 'germ cell effect' was minimized, and a distinct 'deletion effect' became more apparent. Several hundred genes are influenced by YCMD as shown on the three different phenotypes hypospermatogenesis, meiotic arrest, and Sertoli-cell only syndrome. We validated on an independent cohort of samples five genes by quantitative real-time PCR that are expressed in germ cells or the somatic compartment and which are exclusively altered by the presence of YCMD. We conclude that the deletion of Y-chromosomal genes has a significant effect on spermatogenesis by modulating the transcriptional network of the germ cell and somatic compartment.
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