ArticleJournal of molecular and genetic medicine : an international journal of biomedical research2005
Human Y-chromosome variation and male dysfunction.
Article in Journal of molecular and genetic medicine : an international journal of biomedical research, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 21 citations in OpenAlex.
- Mosaic Loss of Chromosome Y in Blood Is Associated with Alzheimer Disease.American journal of human genetics · 2016Trial
- Article
- FISH and array CGH characterization of de novo derivative Y chromosome (Yq duplication and partial Yp deletion) in an azoospermic male.Reproductive biomedicine online · 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
- Mosaic loss of chromosome Y in peripheral blood is associated with shorter survival and higher risk of cancer.Nature genetics · 2014Article
- Maternal diets trigger sex-specific divergent trajectories of gene expression and epigenetic systems in mouse placenta.PloS one · 2012Article
- Structural variation of the human genome: mechanisms, assays, and role in male infertility.Systems biology in reproductive medicine · 2011Review
- Study of AZFc partial deletion gr/gr in fertile and infertile Japanese males.Journal of human genetics · 2006Article
Corrections and comments
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The Y-chromosome is responsible for sex determination in mammals, which is triggered by the expression of the SRY gene, a testis-determining factor. This particular gene, as well as other genes related to male fertility, are located in the non-recombining portion of the Y (NRY), a specific region that encompasses 95% of the human Y-chromosome. The other 5% is composed of the pseudo-autosomal regions (PARs) at the tips of Yp and Yq, a X-chromosome homologous region used during male meiosis for the correct pairing of sexual chromosomes. Despite of the large size of the human NRY (about 60 Mb), only a few active genes are found in this region, most of which are related to fertility. Recently, several male fertility dysfunctions were associated to microdeletions by STS mapping. Now that the complete genetic map of the human Y-chromosome is available, the role of particular NRY genes in fertility dysfunctions is being investigated. Besides, along with the description of several nucleotide and structural variations in the Y-chromosome, the association between phenotype and genotype is being addressed more precisely. Particularly, several research groups are investigating the association between Y-chromosome types and susceptibility to certain male dysfunctions in different population backgrounds. New insights on the role of the Y-chromosome and maleness are being envisaged by this approach.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.