» Articles » PMID: 12384857

Distribution of Recombination Crossovers and the Origin of Haplotype Blocks: the Interplay of Population History, Recombination, and Mutation

Overview
Journal Am J Hum Genet
Publisher Cell Press
Specialty Genetics
Date 2002 Oct 18
PMID 12384857
Citations 176
Authors
Affiliations
Soon will be listed here.
Abstract

Recent studies suggest that haplotypes are arranged into discrete blocklike structures throughout the human genome. Here, we present an alternative haplotype block definition that assumes no recombination within each block but allows for recombination between blocks, and we use it to study the combined effects of demographic history and various population genetic parameters on haplotype block characteristics. Through extensive coalescent simulations and analysis of published haplotype data on chromosome 21, we find that (1) the combined effects of population demographic history, recombination, and mutation dictate haplotype block characteristics and (2) haplotype blocks can arise in the absence of recombination hot spots. Finally, we provide practical guidelines for designing and interpreting studies investigating haplotype block structure.

Citing Articles

Network analysis combined with genome-wide association study helps identification of genes related to amino acid contents in soybean.

Van K, Lee S, Mian M, McHale L BMC Genomics. 2025; 26(1):21.

PMID: 39780068 PMC: 11715193. DOI: 10.1186/s12864-024-11163-8.


Genome-Wide Association Study for Resistance to in Soybean [ (L.) Merr.].

You H, Zhao R, Choi Y, Kang I, Lee S Plants (Basel). 2025; 13(24.

PMID: 39771199 PMC: 11676158. DOI: 10.3390/plants13243501.


Genetic dissection of resistance to Phytophthora sojae using genome-wide association and linkage analysis in soybean [Glycine max (L.) Merr.].

You H, Jang I, Moon J, Kang I, Kim J, Kang S Theor Appl Genet. 2024; 137(12):263.

PMID: 39516394 DOI: 10.1007/s00122-024-04771-1.


African origin haplotype protective for Alzheimer's disease in ε4 carriers: exploring potential mechanisms.

Bertholim-Nasciben L, Nuytemans K, Van Booven D, Rajabli F, Moura S, Ramirez A bioRxiv. 2024; .

PMID: 39484566 PMC: 11527192. DOI: 10.1101/2024.10.24.619909.


Molecular genetic diversity and linkage disequilibrium structure of the Egyptian faba bean using Single Primer Enrichment Technology (SPET).

Sallam A, Amro A, Mourad A, Rafeek A, Boerner A, Eltaher S BMC Genomics. 2024; 25(1):644.

PMID: 38943067 PMC: 11212244. DOI: 10.1186/s12864-024-10245-x.


References
1.
Collins A, Lonjou C, Morton N . Genetic epidemiology of single-nucleotide polymorphisms. Proc Natl Acad Sci U S A. 1999; 96(26):15173-7. PMC: 24792. DOI: 10.1073/pnas.96.26.15173. View

2.
Jeffreys A, Kauppi L, Neumann R . Intensely punctate meiotic recombination in the class II region of the major histocompatibility complex. Nat Genet. 2001; 29(2):217-22. DOI: 10.1038/ng1001-217. View

3.
Lynn A, Kashuk C, Petersen M, Bailey J, Cox D, Antonarakis S . Patterns of meiotic recombination on the long arm of human chromosome 21. Genome Res. 2000; 10(9):1319-32. DOI: 10.1101/gr.138100. View

4.
Reich D, Cargill M, Bolk S, Ireland J, Sabeti P, Richter D . Linkage disequilibrium in the human genome. Nature. 2001; 411(6834):199-204. DOI: 10.1038/35075590. View

5.
Subrahmanyan L, Eberle M, Clark A, Kruglyak L, Nickerson D . Sequence variation and linkage disequilibrium in the human T-cell receptor beta (TCRB) locus. Am J Hum Genet. 2001; 69(2):381-95. PMC: 1235310. DOI: 10.1086/321297. View