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An examination of the relationship between hotspots and recombination associated with chromosome 21 nondisjunction

Oliver, TR and Middlebrooks, CD and Tinker, SW and Allen, EG and Bean, LJH and Begum, F and Feingold, E and Chowdhury, R and Cheung, V and Sherman, SL (2014) An examination of the relationship between hotspots and recombination associated with chromosome 21 nondisjunction. PLoS ONE, 9 (6).

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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.


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Item Type: Article
Status: Published
CreatorsEmailPitt UsernameORCID
Oliver, TR
Middlebrooks, CD
Tinker, SW
Allen, EG
Bean, LJH
Begum, F
Feingold, Efeingold@pitt.eduFEINGOLD
Chowdhury, R
Cheung, V
Sherman, SL
ContributionContributors NameEmailPitt UsernameORCID
Date: 13 June 2014
Date Type: Publication
Journal or Publication Title: PLoS ONE
Volume: 9
Number: 6
DOI or Unique Handle: 10.1371/journal.pone.0099560
Schools and Programs: School of Public Health > Biostatistics
School of Public Health > Human Genetics
Refereed: Yes
Date Deposited: 01 Jul 2014 16:19
Last Modified: 04 Feb 2019 19:55


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