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Evolution of the DAZ gene and the AZFc region on primate Y chromosomes

BACKGROUND: The Azoospermia Factor c (AZFc) region of the human Y chromosome is a unique product of segmental duplication. It consists almost entirely of very long amplicons, represented by different colors, and is frequently deleted in subfertile men. Most of the AZFc amplicons have high sequence s...

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Autores principales: Yu, Yueh-Hsiang, Lin, Yi-Wen, Yu, Jane-Fang, Schempp, Werner, Yen, Pauline H
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2008
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2322974/
https://www.ncbi.nlm.nih.gov/pubmed/18366765
http://dx.doi.org/10.1186/1471-2148-8-96
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author Yu, Yueh-Hsiang
Lin, Yi-Wen
Yu, Jane-Fang
Schempp, Werner
Yen, Pauline H
author_facet Yu, Yueh-Hsiang
Lin, Yi-Wen
Yu, Jane-Fang
Schempp, Werner
Yen, Pauline H
author_sort Yu, Yueh-Hsiang
collection PubMed
description BACKGROUND: The Azoospermia Factor c (AZFc) region of the human Y chromosome is a unique product of segmental duplication. It consists almost entirely of very long amplicons, represented by different colors, and is frequently deleted in subfertile men. Most of the AZFc amplicons have high sequence similarity with autosomal segments, indicating recent duplication and transposition to the Y chromosome. The Deleted in Azoospermia (DAZ) gene within the red-amplicon arose from an ancestral autosomal DAZ-like (DAZL) gene. It varies significantly between different men regarding to its copy number and the numbers of RNA recognition motif and DAZ repeat it encodes. We used Southern analyses to study the evolution of DAZ and AZFc amplicons on the Y chromosomes of primates. RESULTS: The Old World monkey rhesus macaque has only one DAZ gene. In contrast, the great apes have multiple copies of DAZ, ranging from 2 copies in bonobos and gorillas to at least 6 copies in orangutans, and these DAZ genes have polymorphic structures similar to those of their human counterparts. Sequences homologous to the various AZFc amplicons are present on the Y chromosomes of some but not all primates, indicating that they arrived on the Y chromosome at different times during primate evolution. CONCLUSION: The duplication and transposition of AZFc amplicons to the human Y chromosome occurred in three waves, i.e., after the branching of the New World monkey, the gorilla, and the chimpanzee/bonobo lineages, respectively. The red-amplicon, one of the first to arrive on the Y chromosome, amplified by inverted duplication followed by direct duplication after the separation of the Old World monkey and the great ape lineages. Subsequent duplication/deletion in the various lineages gave rise to a spectrum of DAZ gene structure and copy number found in today's great apes.
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spelling pubmed-23229742008-04-18 Evolution of the DAZ gene and the AZFc region on primate Y chromosomes Yu, Yueh-Hsiang Lin, Yi-Wen Yu, Jane-Fang Schempp, Werner Yen, Pauline H BMC Evol Biol Research Article BACKGROUND: The Azoospermia Factor c (AZFc) region of the human Y chromosome is a unique product of segmental duplication. It consists almost entirely of very long amplicons, represented by different colors, and is frequently deleted in subfertile men. Most of the AZFc amplicons have high sequence similarity with autosomal segments, indicating recent duplication and transposition to the Y chromosome. The Deleted in Azoospermia (DAZ) gene within the red-amplicon arose from an ancestral autosomal DAZ-like (DAZL) gene. It varies significantly between different men regarding to its copy number and the numbers of RNA recognition motif and DAZ repeat it encodes. We used Southern analyses to study the evolution of DAZ and AZFc amplicons on the Y chromosomes of primates. RESULTS: The Old World monkey rhesus macaque has only one DAZ gene. In contrast, the great apes have multiple copies of DAZ, ranging from 2 copies in bonobos and gorillas to at least 6 copies in orangutans, and these DAZ genes have polymorphic structures similar to those of their human counterparts. Sequences homologous to the various AZFc amplicons are present on the Y chromosomes of some but not all primates, indicating that they arrived on the Y chromosome at different times during primate evolution. CONCLUSION: The duplication and transposition of AZFc amplicons to the human Y chromosome occurred in three waves, i.e., after the branching of the New World monkey, the gorilla, and the chimpanzee/bonobo lineages, respectively. The red-amplicon, one of the first to arrive on the Y chromosome, amplified by inverted duplication followed by direct duplication after the separation of the Old World monkey and the great ape lineages. Subsequent duplication/deletion in the various lineages gave rise to a spectrum of DAZ gene structure and copy number found in today's great apes. BioMed Central 2008-03-26 /pmc/articles/PMC2322974/ /pubmed/18366765 http://dx.doi.org/10.1186/1471-2148-8-96 Text en Copyright ©2008 Yu et al; licensee BioMed Central Ltd. http://creativecommons.org/licenses/by/2.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Research Article
Yu, Yueh-Hsiang
Lin, Yi-Wen
Yu, Jane-Fang
Schempp, Werner
Yen, Pauline H
Evolution of the DAZ gene and the AZFc region on primate Y chromosomes
title Evolution of the DAZ gene and the AZFc region on primate Y chromosomes
title_full Evolution of the DAZ gene and the AZFc region on primate Y chromosomes
title_fullStr Evolution of the DAZ gene and the AZFc region on primate Y chromosomes
title_full_unstemmed Evolution of the DAZ gene and the AZFc region on primate Y chromosomes
title_short Evolution of the DAZ gene and the AZFc region on primate Y chromosomes
title_sort evolution of the daz gene and the azfc region on primate y chromosomes
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2322974/
https://www.ncbi.nlm.nih.gov/pubmed/18366765
http://dx.doi.org/10.1186/1471-2148-8-96
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