ArticleThe Journal of clinical endocrinology and metabolism2009
TSPY1 copy number variation influences spermatogenesis and shows differences among Y lineages.
Article in The Journal of clinical endocrinology and metabolism, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 40 papers.
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Who cites it
40 citing papers in PubMed.
- Beyond sex determination: the Y chromosome in male cancers.Nature reviews. Cancer · 2026Review
- Divergent Amplification of Y-Linked Dosage-Sensitive Genes Triggers Regulatory Mismatch Underlying Cattle-Yak Male Sterility.Biomolecules · 2026Article
- Review
- Transcript Isoform Diversity of Ampliconic Genes on the Y Chromosome of Great Apes.Genome biology and evolution · 2023Article
- Novel Mutations of TSPY1 Gene Associate Spermatogenic Failure Among Men.Reproductive sciences (Thousand Oaks, Calif.) · 2022Article
- Repetitive DNA Sequences in the Human Y Chromosome and Male Infertility.Frontiers in cell and developmental biology · 2022Review
- Y chromosome copy number variation and its effects on fertility and other health factors: a review.Translational andrology and urology · 2021Review
- Sequence Read Depth Analysis of a Monophyletic Cluster of Y Chromosomes Characterized by Structural Rearrangements in the AZFc Region Resulting in DYS448 Deletion and DYF387S1 Duplication.Frontiers in genetics · 2021Article
- Alternatives to amelogenin markers for sex determination in humans and their forensic relevance.Molecular biology reports · 2020Review
- Review
- Dosage regulation, and variation in gene expression and copy number of human Y chromosome ampliconic genes.PLoS genetics · 2019Article
- Deciphering highly similar multigene family transcripts from Iso-Seq data with IsoCon.Nature communications · 2018Article
- Selection Has Countered High Mutability to Preserve the Ancestral Copy Number of Y Chromosome Amplicons in Diverse Human Lineages.American journal of human genetics · 2018Article
- TSPY1 suppresses USP7-mediated p53 function and promotes spermatogonial proliferation.Cell death & disease · 2018Article
- High Levels of Copy Number Variation of Ampliconic Genes across Major Human Y Haplogroups.Genome biology and evolution · 2018Article
- Y-chromosome polymorphisms of the domestic Bactrian camel in China.Journal of genetics · 2018Article
- Analysis of 62 hybrid assembled human Y chromosomes exposes rapid structural changes and high rates of gene conversion.PLoS genetics · 2017Article
- Human Y-chromosome variation in the genome-sequencing era.Nature reviews. Genetics · 2017Review
- Associations between male infertility and ancestry in South Americans: a case control study.BMC medical genetics · 2017Article
- Spermatogenic failure and the Y chromosome.Human genetics · 2017Review
Corrections and comments
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Authors and funding
9 authors.
Funding
Abstract
contextTSPY1 is a tandemly-repeated gene on the human Y chromosome forming an array of approximately 21-35 copies. The testicular expression pattern and the inferred function of the TSPY1 protein suggest possible involvement in spermatogenesis. However, data are scarce on TSPY1 copy number variation in different Y lineages and its role in spermatogenesis.
objectivesWe sought to define: 1) the extent of TSPY1 copy number variation within and among Y chromosome haplogroups; and 2) the role of TSPY1 dosage in spermatogenic efficiency. MATERIALS AND
methodsA total of 154 idiopathic infertile men and 130 normozoospermic controls from Central Italy were analyzed. We used a quantitative PCR assay to measure TSPY1 copy number and also defined Y haplogroups in all subjects.
resultsWe provide evidence that TSPY1 copy number shows substantial variation among Y haplogroups and thus that population stratification does represent a potential bias in case-control association studies. We also found: 1) a significant positive correlation between TSPY1 copy number and sperm count (P < 0.001); 2) a significant difference in mean TSPY1 copy number between patients and controls (28.4 +/- 8.3 vs. 33.9 +/- 10.7; P < 0.001); and 3) a 1.5-fold increased risk of abnormal sperm parameters in men with less than 33 copies (P < 0.001).
conclusionsTSPY copy number variation significantly influences spermatogenic efficiency. Low TSPY1 copy number is a new risk factor for male infertility with potential clinical consequences.
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