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An Examination of the Relationship between Hotspots and Recombination Associated with Chromosome 21 Nondisjunction
Trisomy 21, resulting in Down Syndrome (DS), is the most common autosomal trisomy among live-born infants and is caused mainly by nondisjunction of chromosome 21 within oocytes. Risk factors for nondisjunction depend on the parental origin and type of meiotic error. For errors in the oocyte, increas...
Autores principales: | , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2014
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4057233/ https://www.ncbi.nlm.nih.gov/pubmed/24926858 http://dx.doi.org/10.1371/journal.pone.0099560 |
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author | Oliver, Tiffany Renee Middlebrooks, Candace D. Tinker, Stuart W. Allen, Emily Graves Bean, Lora J. H. Begum, Ferdouse Feingold, Eleanor Chowdhury, Reshmi Cheung, Vivian Sherman, Stephanie L. |
author_facet | Oliver, Tiffany Renee Middlebrooks, Candace D. Tinker, Stuart W. Allen, Emily Graves Bean, Lora J. H. Begum, Ferdouse Feingold, Eleanor Chowdhury, Reshmi Cheung, Vivian Sherman, Stephanie L. |
author_sort | Oliver, Tiffany Renee |
collection | PubMed |
description | Trisomy 21, resulting in Down Syndrome (DS), is the most common autosomal trisomy among live-born infants and is caused mainly by nondisjunction of chromosome 21 within oocytes. Risk factors for nondisjunction depend on the parental origin and type of meiotic error. For errors in the oocyte, increased maternal age and altered patterns of recombination are highly associated with nondisjunction. Studies of normal meiotic events in humans have shown that recombination clusters in regions referred to as hotspots. In addition, GC content, CpG fraction, Poly(A)/Poly(T) fraction and gene density have been found to be significant predictors of the placement of sex-averaged recombination in the human genome. These observations led us to ask whether the altered patterns of recombination associated with maternal nondisjunction of chromosome 21 could be explained by differences in the relationship between recombination placement and recombination-related genomic features (i.e., GC content, CpG fraction, Poly(A)/Poly(T) fraction or gene density) on 21q or differential hot-spot usage along the nondisjoined chromosome 21. We found several significant associations between our genomic features of interest and recombination, interestingly, these results were not consistent among recombination types (single and double proximal or distal events). We also found statistically significant relationships between the frequency of hotspots and the distribution of recombination along nondisjoined chromosomes. Collectively, these findings suggest that factors that affect the accessibility of a specific chromosome region to recombination may be altered in at least a proportion of oocytes with MI and MII errors. |
format | Online Article Text |
id | pubmed-4057233 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2014 |
publisher | Public Library of Science |
record_format | MEDLINE/PubMed |
spelling | pubmed-40572332014-06-18 An Examination of the Relationship between Hotspots and Recombination Associated with Chromosome 21 Nondisjunction Oliver, Tiffany Renee Middlebrooks, Candace D. Tinker, Stuart W. Allen, Emily Graves Bean, Lora J. H. Begum, Ferdouse Feingold, Eleanor Chowdhury, Reshmi Cheung, Vivian Sherman, Stephanie L. PLoS One Research Article Trisomy 21, resulting in Down Syndrome (DS), is the most common autosomal trisomy among live-born infants and is caused mainly by nondisjunction of chromosome 21 within oocytes. Risk factors for nondisjunction depend on the parental origin and type of meiotic error. For errors in the oocyte, increased maternal age and altered patterns of recombination are highly associated with nondisjunction. Studies of normal meiotic events in humans have shown that recombination clusters in regions referred to as hotspots. In addition, GC content, CpG fraction, Poly(A)/Poly(T) fraction and gene density have been found to be significant predictors of the placement of sex-averaged recombination in the human genome. These observations led us to ask whether the altered patterns of recombination associated with maternal nondisjunction of chromosome 21 could be explained by differences in the relationship between recombination placement and recombination-related genomic features (i.e., GC content, CpG fraction, Poly(A)/Poly(T) fraction or gene density) on 21q or differential hot-spot usage along the nondisjoined chromosome 21. We found several significant associations between our genomic features of interest and recombination, interestingly, these results were not consistent among recombination types (single and double proximal or distal events). We also found statistically significant relationships between the frequency of hotspots and the distribution of recombination along nondisjoined chromosomes. Collectively, these findings suggest that factors that affect the accessibility of a specific chromosome region to recombination may be altered in at least a proportion of oocytes with MI and MII errors. Public Library of Science 2014-06-13 /pmc/articles/PMC4057233/ /pubmed/24926858 http://dx.doi.org/10.1371/journal.pone.0099560 Text en https://creativecommons.org/publicdomain/zero/1.0/ This is an open-access article distributed under the terms of the Creative Commons Public Domain declaration, which stipulates that, once placed in the public domain, this work may be freely reproduced, distributed, transmitted, modified, built upon, or otherwise used by anyone for any lawful purpose. |
spellingShingle | Research Article Oliver, Tiffany Renee Middlebrooks, Candace D. Tinker, Stuart W. Allen, Emily Graves Bean, Lora J. H. Begum, Ferdouse Feingold, Eleanor Chowdhury, Reshmi Cheung, Vivian Sherman, Stephanie L. An Examination of the Relationship between Hotspots and Recombination Associated with Chromosome 21 Nondisjunction |
title | An Examination of the Relationship between Hotspots and Recombination Associated with Chromosome 21 Nondisjunction |
title_full | An Examination of the Relationship between Hotspots and Recombination Associated with Chromosome 21 Nondisjunction |
title_fullStr | An Examination of the Relationship between Hotspots and Recombination Associated with Chromosome 21 Nondisjunction |
title_full_unstemmed | An Examination of the Relationship between Hotspots and Recombination Associated with Chromosome 21 Nondisjunction |
title_short | An Examination of the Relationship between Hotspots and Recombination Associated with Chromosome 21 Nondisjunction |
title_sort | examination of the relationship between hotspots and recombination associated with chromosome 21 nondisjunction |
topic | Research Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4057233/ https://www.ncbi.nlm.nih.gov/pubmed/24926858 http://dx.doi.org/10.1371/journal.pone.0099560 |
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