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...
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| 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. |
| doi_str_mv | 10.1371/journal.pone.0099560 |
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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.</description><identifier>ISSN: 1932-6203</identifier><identifier>EISSN: 1932-6203</identifier><identifier>DOI: 10.1371/journal.pone.0099560</identifier><identifier>PMID: 24926858</identifier><language>eng</language><publisher>United States: Public Library of Science</publisher><subject>Age ; Biology and life sciences ; Chromosome 21 ; Chromosomes ; Chromosomes, Human, Pair 21 - genetics ; CpG islands ; Down syndrome ; Down Syndrome - genetics ; Down's syndrome ; Female ; Genetic aspects ; Genetic recombination ; Genomes ; Genomics ; Genotype ; Hot spots ; Humans ; Infants ; Male ; Medicine ; Medicine and Health Sciences ; Meiosis ; Nondisjunction ; Nondisjunction, Genetic ; Oocytes ; Oral hygiene ; Placement ; Polyadenine ; Public health ; Recombination ; Recombination, Genetic ; Risk analysis ; Risk Factors ; Statistical analysis ; Studies ; Trisomy</subject><ispartof>PloS one, 2014-06, Vol.9 (6), p.e99560</ispartof><rights>COPYRIGHT 2014 Public Library of Science</rights><rights>2014. This is an open-access article, free of all copyright, and may be freely reproduced, distributed, transmitted, modified, built upon, or otherwise used by anyone for any lawful purpose. The work is made available under the Creative Commons CC0 public domain dedication. Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.</rights><rights>2014</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c692t-84e1800d793534f59e4531e9d67c6ff5d8ce04bff856c79303497d55a4728aa03</citedby><cites>FETCH-LOGICAL-c692t-84e1800d793534f59e4531e9d67c6ff5d8ce04bff856c79303497d55a4728aa03</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC4057233/pdf/$$EPDF$$P50$$Gpubmedcentral$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC4057233/$$EHTML$$P50$$Gpubmedcentral$$Hfree_for_read</linktohtml><link.rule.ids>230,314,723,776,780,860,881,2096,2915,23845,27901,27902,53766,53768,79343,79344</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/24926858$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><contributor>Sullivan, Beth A.</contributor><creatorcontrib>Oliver, Tiffany Renee</creatorcontrib><creatorcontrib>Middlebrooks, Candace D</creatorcontrib><creatorcontrib>Tinker, Stuart W</creatorcontrib><creatorcontrib>Allen, Emily Graves</creatorcontrib><creatorcontrib>Bean, Lora J H</creatorcontrib><creatorcontrib>Begum, Ferdouse</creatorcontrib><creatorcontrib>Feingold, Eleanor</creatorcontrib><creatorcontrib>Chowdhury, Reshmi</creatorcontrib><creatorcontrib>Cheung, Vivian</creatorcontrib><creatorcontrib>Sherman, Stephanie L</creatorcontrib><title>An examination of the relationship between hotspots and recombination associated with chromosome 21 nondisjunction</title><title>PloS one</title><addtitle>PLoS One</addtitle><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.</description><subject>Age</subject><subject>Biology and life sciences</subject><subject>Chromosome 21</subject><subject>Chromosomes</subject><subject>Chromosomes, Human, Pair 21 - genetics</subject><subject>CpG islands</subject><subject>Down syndrome</subject><subject>Down Syndrome - genetics</subject><subject>Down's syndrome</subject><subject>Female</subject><subject>Genetic aspects</subject><subject>Genetic recombination</subject><subject>Genomes</subject><subject>Genomics</subject><subject>Genotype</subject><subject>Hot spots</subject><subject>Humans</subject><subject>Infants</subject><subject>Male</subject><subject>Medicine</subject><subject>Medicine and Health Sciences</subject><subject>Meiosis</subject><subject>Nondisjunction</subject><subject>Nondisjunction, Genetic</subject><subject>Oocytes</subject><subject>Oral hygiene</subject><subject>Placement</subject><subject>Polyadenine</subject><subject>Public health</subject><subject>Recombination</subject><subject>Recombination, Genetic</subject><subject>Risk analysis</subject><subject>Risk Factors</subject><subject>Statistical 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Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Oliver, Tiffany Renee</au><au>Middlebrooks, Candace D</au><au>Tinker, Stuart W</au><au>Allen, Emily Graves</au><au>Bean, Lora J H</au><au>Begum, Ferdouse</au><au>Feingold, Eleanor</au><au>Chowdhury, Reshmi</au><au>Cheung, Vivian</au><au>Sherman, Stephanie L</au><au>Sullivan, Beth A.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>An examination of the relationship between hotspots and recombination associated with chromosome 21 nondisjunction</atitle><jtitle>PloS one</jtitle><addtitle>PLoS One</addtitle><date>2014-06-13</date><risdate>2014</risdate><volume>9</volume><issue>6</issue><spage>e99560</spage><pages>e99560-</pages><issn>1932-6203</issn><eissn>1932-6203</eissn><abstract>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.</abstract><cop>United States</cop><pub>Public Library of Science</pub><pmid>24926858</pmid><doi>10.1371/journal.pone.0099560</doi><oa>free_for_read</oa></addata></record> |
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| subjects | Age Biology and life sciences Chromosome 21 Chromosomes Chromosomes, Human, Pair 21 - genetics CpG islands Down syndrome Down Syndrome - genetics Down's syndrome Female Genetic aspects Genetic recombination Genomes Genomics Genotype Hot spots Humans Infants Male Medicine Medicine and Health Sciences Meiosis Nondisjunction Nondisjunction, Genetic Oocytes Oral hygiene Placement Polyadenine Public health Recombination Recombination, Genetic Risk analysis Risk Factors Statistical analysis Studies Trisomy |
| title | An examination of the relationship between hotspots and recombination associated with chromosome 21 nondisjunction |
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