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Y chromosome copy number variation and its effects on fertility and other health factors: a review

The Y chromosome is essential for testis development and spermatogenesis. It is a chromosome with the lowest gene density owing to its medium size but paucity of coding genes. The Y chromosome is unique in that the majority of its structure is highly repetitive sequences, with the majority of these...

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Autor principal: Rogers, Marc J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: AME Publishing Company 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8039628/
https://www.ncbi.nlm.nih.gov/pubmed/33850773
http://dx.doi.org/10.21037/tau.2020.04.06
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author Rogers, Marc J.
author_facet Rogers, Marc J.
author_sort Rogers, Marc J.
collection PubMed
description The Y chromosome is essential for testis development and spermatogenesis. It is a chromosome with the lowest gene density owing to its medium size but paucity of coding genes. The Y chromosome is unique in that the majority of its structure is highly repetitive sequences, with the majority of these limited genes occurring in 9 amplionic sequences throughout the chromosome. The repetitive nature has its benefits as it can be protective against gene loss over many generations, but it can also predispose the Y chromosome to having wide variations of the number of gene copies present in these repeated sequences. This is known as copy number variation. Copy number variation is not unique to the Y chromosome but copy number variation is a well-known cause of male infertility and having effects on spermatogenesis. This is most commonly seen as deletions of the AZF sequences on the Y chromosome. However, there are other implications for copy number variation beyond just the AZF deletions that can affect spermatogenesis and potentially have other health implications. Copy number variations of TSPY1, DAZ, CDY1, RBMY1, the DYZ1 array, along with minor deletions of gr/gr, b1/b3, and b2/b3 have all be implicated in affecting spermatogenesis. UTY copy number variations have been implicated in risk for cardiovascular disease, and other deletions within gr/gr and the AZF sequences have been implicated in cancer and neuropsychiatric diseases. This review sets out to describe the Y chromosome and unique susceptibility to copy number variation and then to examine how this growing body of research impacts spermatogenesis and other health factors.
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spelling pubmed-80396282021-04-12 Y chromosome copy number variation and its effects on fertility and other health factors: a review Rogers, Marc J. Transl Androl Urol Review Article on Genetic Causes and Management of Male Infertility The Y chromosome is essential for testis development and spermatogenesis. It is a chromosome with the lowest gene density owing to its medium size but paucity of coding genes. The Y chromosome is unique in that the majority of its structure is highly repetitive sequences, with the majority of these limited genes occurring in 9 amplionic sequences throughout the chromosome. The repetitive nature has its benefits as it can be protective against gene loss over many generations, but it can also predispose the Y chromosome to having wide variations of the number of gene copies present in these repeated sequences. This is known as copy number variation. Copy number variation is not unique to the Y chromosome but copy number variation is a well-known cause of male infertility and having effects on spermatogenesis. This is most commonly seen as deletions of the AZF sequences on the Y chromosome. However, there are other implications for copy number variation beyond just the AZF deletions that can affect spermatogenesis and potentially have other health implications. Copy number variations of TSPY1, DAZ, CDY1, RBMY1, the DYZ1 array, along with minor deletions of gr/gr, b1/b3, and b2/b3 have all be implicated in affecting spermatogenesis. UTY copy number variations have been implicated in risk for cardiovascular disease, and other deletions within gr/gr and the AZF sequences have been implicated in cancer and neuropsychiatric diseases. This review sets out to describe the Y chromosome and unique susceptibility to copy number variation and then to examine how this growing body of research impacts spermatogenesis and other health factors. AME Publishing Company 2021-03 /pmc/articles/PMC8039628/ /pubmed/33850773 http://dx.doi.org/10.21037/tau.2020.04.06 Text en 2021 Translational Andrology and Urology. All rights reserved. https://creativecommons.org/licenses/by-nc-nd/4.0/Open Access Statement: This is an Open Access article distributed in accordance with the Creative Commons Attribution-NonCommercial-NoDerivs 4.0 International License (CC BY-NC-ND 4.0), which permits the non-commercial replication and distribution of the article with the strict proviso that no changes or edits are made and the original work is properly cited (including links to both the formal publication through the relevant DOI and the license). See: https://creativecommons.org/licenses/by-nc-nd/4.0 (https://creativecommons.org/licenses/by-nc-nd/4.0/) .
spellingShingle Review Article on Genetic Causes and Management of Male Infertility
Rogers, Marc J.
Y chromosome copy number variation and its effects on fertility and other health factors: a review
title Y chromosome copy number variation and its effects on fertility and other health factors: a review
title_full Y chromosome copy number variation and its effects on fertility and other health factors: a review
title_fullStr Y chromosome copy number variation and its effects on fertility and other health factors: a review
title_full_unstemmed Y chromosome copy number variation and its effects on fertility and other health factors: a review
title_short Y chromosome copy number variation and its effects on fertility and other health factors: a review
title_sort y chromosome copy number variation and its effects on fertility and other health factors: a review
topic Review Article on Genetic Causes and Management of Male Infertility
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8039628/
https://www.ncbi.nlm.nih.gov/pubmed/33850773
http://dx.doi.org/10.21037/tau.2020.04.06
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