Broad-scale recombination patterns underlying proper disjunction in humans.

Although recombination is essential to the successful completion of human meiosis, it remains unclear how tightly the process is regulated and over what scale. To assess the nature and stringency of constraints on human recombination, we examined crossover patterns in transmissions to viable, non-tr...

Ամբողջական նկարագրություն

Մատենագիտական մանրամասներ
Հիմնական հեղինակներ: Fledel-Alon, A, Wilson, D, Broman, K, Wen, X, Ober, C, Coop, G, Przeworski, M
Ձևաչափ: Journal article
Լեզու:English
Հրապարակվել է: Public Library of Science 2009
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author Fledel-Alon, A
Wilson, D
Broman, K
Wen, X
Ober, C
Coop, G
Przeworski, M
author_facet Fledel-Alon, A
Wilson, D
Broman, K
Wen, X
Ober, C
Coop, G
Przeworski, M
author_sort Fledel-Alon, A
collection OXFORD
description Although recombination is essential to the successful completion of human meiosis, it remains unclear how tightly the process is regulated and over what scale. To assess the nature and stringency of constraints on human recombination, we examined crossover patterns in transmissions to viable, non-trisomic offspring, using dense genotyping data collected in a large set of pedigrees. Our analysis supports a requirement for one chiasma per chromosome rather than per arm to ensure proper disjunction, with additional chiasmata occurring in proportion to physical length. The requirement is not absolute, however, as chromosome 21 seems to be frequently transmitted properly in the absence of a chiasma in females, a finding that raises the possibility of a back-up mechanism aiding in its correct segregation. We also found a set of double crossovers in surprisingly close proximity, as expected from a second pathway that is not subject to crossover interference. These findings point to multiple mechanisms that shape the distribution of crossovers, influencing proper disjunction in humans.
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spelling oxford-uuid:a59b2f61-d461-4260-9ffa-43912841ad652022-03-27T02:41:37ZBroad-scale recombination patterns underlying proper disjunction in humans.Journal articlehttp://purl.org/coar/resource_type/c_dcae04bcuuid:a59b2f61-d461-4260-9ffa-43912841ad65EnglishSymplectic Elements at OxfordPublic Library of Science2009Fledel-Alon, AWilson, DBroman, KWen, XOber, CCoop, GPrzeworski, MAlthough recombination is essential to the successful completion of human meiosis, it remains unclear how tightly the process is regulated and over what scale. To assess the nature and stringency of constraints on human recombination, we examined crossover patterns in transmissions to viable, non-trisomic offspring, using dense genotyping data collected in a large set of pedigrees. Our analysis supports a requirement for one chiasma per chromosome rather than per arm to ensure proper disjunction, with additional chiasmata occurring in proportion to physical length. The requirement is not absolute, however, as chromosome 21 seems to be frequently transmitted properly in the absence of a chiasma in females, a finding that raises the possibility of a back-up mechanism aiding in its correct segregation. We also found a set of double crossovers in surprisingly close proximity, as expected from a second pathway that is not subject to crossover interference. These findings point to multiple mechanisms that shape the distribution of crossovers, influencing proper disjunction in humans.
spellingShingle Fledel-Alon, A
Wilson, D
Broman, K
Wen, X
Ober, C
Coop, G
Przeworski, M
Broad-scale recombination patterns underlying proper disjunction in humans.
title Broad-scale recombination patterns underlying proper disjunction in humans.
title_full Broad-scale recombination patterns underlying proper disjunction in humans.
title_fullStr Broad-scale recombination patterns underlying proper disjunction in humans.
title_full_unstemmed Broad-scale recombination patterns underlying proper disjunction in humans.
title_short Broad-scale recombination patterns underlying proper disjunction in humans.
title_sort broad scale recombination patterns underlying proper disjunction in humans
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AT wilsond broadscalerecombinationpatternsunderlyingproperdisjunctioninhumans
AT bromank broadscalerecombinationpatternsunderlyingproperdisjunctioninhumans
AT wenx broadscalerecombinationpatternsunderlyingproperdisjunctioninhumans
AT oberc broadscalerecombinationpatternsunderlyingproperdisjunctioninhumans
AT coopg broadscalerecombinationpatternsunderlyingproperdisjunctioninhumans
AT przeworskim broadscalerecombinationpatternsunderlyingproperdisjunctioninhumans