Strong correlation between meiotic crossovers and haplotype structure in a 2.5-Mb region on the long arm of chromosome 21

Danielle M. Greenawalt; Xiangfeng Cui; Yujun Wu; Yong Lin; Hui Yun Wang; Minjie Luo; Irina V. Tereshchenko; Guohong Hu; James Y. Li; Yi Chu; Marco A. Azaro; Christina J. DeCoste; Nyam Osor Chimge; Richeng Gao; Li Shen; Weichung J. Shih; Kenneth Lange; Honghua Li

doi:10.1101/gr.4641706

Strong correlation between meiotic crossovers and haplotype structure in a 2.5-Mb region on the long arm of chromosome 21

Danielle M. Greenawalt
, Xiangfeng Cui
, Yujun Wu
, Yong Lin
, Hui Yun Wang
, Minjie Luo
, Irina V. Tereshchenko
, Guohong Hu
, James Y. Li
, Yi Chu
, Marco A. Azaro
, Christina J. DeCoste
, Nyam Osor Chimge
, Richeng Gao
, Li Shen
, Weichung J. Shih
, Kenneth Lange
, Honghua Li

Rutgers, The State University

Research output: Contribution to journal › Article › peer-review

23 Scopus citations

Abstract

Although the haplotype structure of the human genome has been studied in great detail, very little is known about the mechanisms underlying its formation. To investigate the role of meiotic recombination on haplotype block formation, single nucleotide polymorphisms were selected at a high density from a 2.5-Mb region of human chromosome 21. Direct analysis of meiotic recombination by high-throughput multiplex genotyping of 662 single sperm identifies 41 recombinants. The crossovers were nonrandomly distributed within 16 small areas. All, except one, of these crossovers fall in areas where the haplotype structure exhibits breakdown, displaying a strong statistically positive association between crossovers and haplotype block breaks. The data also indicate a particular clustered distribution of recombination hotspots within the region. This finding supports the hypothesis that meiotic recombination makes a primary contribution to haplotype block formation in the human genome.

Original language	American English
Pages (from-to)	208-214
Number of pages	7
Journal	Genome research
Volume	16
Issue number	2
DOIs	https://doi.org/10.1101/gr.4641706
State	Published - Feb 2006

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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Greenawalt, D. M., Cui, X., Wu, Y., Lin, Y., Wang, H. Y., Luo, M., Tereshchenko, I. V., Hu, G., Li, J. Y., Chu, Y., Azaro, M. A., DeCoste, C. J., Chimge, N. O., Gao, R., Shen, L., Shih, W. J., Lange, K., & Li, H. (2006). Strong correlation between meiotic crossovers and haplotype structure in a 2.5-Mb region on the long arm of chromosome 21. Genome research, 16(2), 208-214. https://doi.org/10.1101/gr.4641706

@article{128979c8e1c546b99711582d4c0f0108,

title = "Strong correlation between meiotic crossovers and haplotype structure in a 2.5-Mb region on the long arm of chromosome 21",

abstract = "Although the haplotype structure of the human genome has been studied in great detail, very little is known about the mechanisms underlying its formation. To investigate the role of meiotic recombination on haplotype block formation, single nucleotide polymorphisms were selected at a high density from a 2.5-Mb region of human chromosome 21. Direct analysis of meiotic recombination by high-throughput multiplex genotyping of 662 single sperm identifies 41 recombinants. The crossovers were nonrandomly distributed within 16 small areas. All, except one, of these crossovers fall in areas where the haplotype structure exhibits breakdown, displaying a strong statistically positive association between crossovers and haplotype block breaks. The data also indicate a particular clustered distribution of recombination hotspots within the region. This finding supports the hypothesis that meiotic recombination makes a primary contribution to haplotype block formation in the human genome.",

author = "Greenawalt, \{Danielle M.\} and Xiangfeng Cui and Yujun Wu and Yong Lin and Wang, \{Hui Yun\} and Minjie Luo and Tereshchenko, \{Irina V.\} and Guohong Hu and Li, \{James Y.\} and Yi Chu and Azaro, \{Marco A.\} and DeCoste, \{Christina J.\} and Chimge, \{Nyam Osor\} and Richeng Gao and Li Shen and Shih, \{Weichung J.\} and Kenneth Lange and Honghua Li",

year = "2006",

month = feb,

doi = "10.1101/gr.4641706",

language = "American English",

volume = "16",

pages = "208--214",

journal = "Genome research",

issn = "1088-9051",

publisher = "Cold Spring Harbor Laboratory Press",

number = "2",

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Greenawalt, DM, Cui, X, Wu, Y, Lin, Y, Wang, HY, Luo, M, Tereshchenko, IV, Hu, G, Li, JY, Chu, Y, Azaro, MA, DeCoste, CJ, Chimge, NO, Gao, R, Shen, L, Shih, WJ, Lange, K & Li, H 2006, 'Strong correlation between meiotic crossovers and haplotype structure in a 2.5-Mb region on the long arm of chromosome 21', Genome research, vol. 16, no. 2, pp. 208-214. https://doi.org/10.1101/gr.4641706

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T1 - Strong correlation between meiotic crossovers and haplotype structure in a 2.5-Mb region on the long arm of chromosome 21

AU - Greenawalt, Danielle M.

AU - Cui, Xiangfeng

AU - Wu, Yujun

AU - Lin, Yong

AU - Wang, Hui Yun

AU - Luo, Minjie

AU - Tereshchenko, Irina V.

AU - Hu, Guohong

AU - Li, James Y.

AU - Chu, Yi

AU - Azaro, Marco A.

AU - DeCoste, Christina J.

AU - Chimge, Nyam Osor

AU - Gao, Richeng

AU - Shen, Li

AU - Shih, Weichung J.

AU - Lange, Kenneth

AU - Li, Honghua

PY - 2006/2

Y1 - 2006/2

N2 - Although the haplotype structure of the human genome has been studied in great detail, very little is known about the mechanisms underlying its formation. To investigate the role of meiotic recombination on haplotype block formation, single nucleotide polymorphisms were selected at a high density from a 2.5-Mb region of human chromosome 21. Direct analysis of meiotic recombination by high-throughput multiplex genotyping of 662 single sperm identifies 41 recombinants. The crossovers were nonrandomly distributed within 16 small areas. All, except one, of these crossovers fall in areas where the haplotype structure exhibits breakdown, displaying a strong statistically positive association between crossovers and haplotype block breaks. The data also indicate a particular clustered distribution of recombination hotspots within the region. This finding supports the hypothesis that meiotic recombination makes a primary contribution to haplotype block formation in the human genome.

AB - Although the haplotype structure of the human genome has been studied in great detail, very little is known about the mechanisms underlying its formation. To investigate the role of meiotic recombination on haplotype block formation, single nucleotide polymorphisms were selected at a high density from a 2.5-Mb region of human chromosome 21. Direct analysis of meiotic recombination by high-throughput multiplex genotyping of 662 single sperm identifies 41 recombinants. The crossovers were nonrandomly distributed within 16 small areas. All, except one, of these crossovers fall in areas where the haplotype structure exhibits breakdown, displaying a strong statistically positive association between crossovers and haplotype block breaks. The data also indicate a particular clustered distribution of recombination hotspots within the region. This finding supports the hypothesis that meiotic recombination makes a primary contribution to haplotype block formation in the human genome.

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SN - 1088-9051

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JO - Genome research

JF - Genome research

IS - 2

ER -

Strong correlation between meiotic crossovers and haplotype structure in a 2.5-Mb region on the long arm of chromosome 21

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