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Intriguing Balancing Selection on the Intron 5 Region of LMBR1 in Human Population

BACKGROUND: The intron 5 of gene LMBR1 is the cis-acting regulatory module for the sonic hedgehog (SHH) gene. Mutation in this non-coding region is associated with preaxial polydactyly, and may play crucial roles in the evolution of limb and skeletal system. METHODOLOGY/PRINCIPAL FINDINGS: We sequen...

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Detalles Bibliográficos
Autores principales: He, Fang, Wu, Dong-Dong, Kong, Qing-Peng, Zhang, Ya-Ping
Formato: Texto
Lenguaje:English
Publicado: Public Library of Science 2008
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2492787/
https://www.ncbi.nlm.nih.gov/pubmed/18698406
http://dx.doi.org/10.1371/journal.pone.0002948
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author He, Fang
Wu, Dong-Dong
Kong, Qing-Peng
Zhang, Ya-Ping
author_facet He, Fang
Wu, Dong-Dong
Kong, Qing-Peng
Zhang, Ya-Ping
author_sort He, Fang
collection PubMed
description BACKGROUND: The intron 5 of gene LMBR1 is the cis-acting regulatory module for the sonic hedgehog (SHH) gene. Mutation in this non-coding region is associated with preaxial polydactyly, and may play crucial roles in the evolution of limb and skeletal system. METHODOLOGY/PRINCIPAL FINDINGS: We sequenced a region of the LMBR1 gene intron 5 in East Asian human population, and found a significant deviation of Tajima's D statistics from neutrality taking human population growth into account. Data from HapMap also demonstrated extended linkage disequilibrium in the region in East Asian and European population, and significantly low degree of genetic differentiation among human populations. CONCLUSION/SIGNIFICANCE: We proposed that the intron 5 of LMBR1 was presumably subject to balancing selection during the evolution of modern human.
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spelling pubmed-24927872008-08-13 Intriguing Balancing Selection on the Intron 5 Region of LMBR1 in Human Population He, Fang Wu, Dong-Dong Kong, Qing-Peng Zhang, Ya-Ping PLoS One Research Article BACKGROUND: The intron 5 of gene LMBR1 is the cis-acting regulatory module for the sonic hedgehog (SHH) gene. Mutation in this non-coding region is associated with preaxial polydactyly, and may play crucial roles in the evolution of limb and skeletal system. METHODOLOGY/PRINCIPAL FINDINGS: We sequenced a region of the LMBR1 gene intron 5 in East Asian human population, and found a significant deviation of Tajima's D statistics from neutrality taking human population growth into account. Data from HapMap also demonstrated extended linkage disequilibrium in the region in East Asian and European population, and significantly low degree of genetic differentiation among human populations. CONCLUSION/SIGNIFICANCE: We proposed that the intron 5 of LMBR1 was presumably subject to balancing selection during the evolution of modern human. Public Library of Science 2008-08-13 /pmc/articles/PMC2492787/ /pubmed/18698406 http://dx.doi.org/10.1371/journal.pone.0002948 Text en He et al. http://creativecommons.org/licenses/by/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are properly credited.
spellingShingle Research Article
He, Fang
Wu, Dong-Dong
Kong, Qing-Peng
Zhang, Ya-Ping
Intriguing Balancing Selection on the Intron 5 Region of LMBR1 in Human Population
title Intriguing Balancing Selection on the Intron 5 Region of LMBR1 in Human Population
title_full Intriguing Balancing Selection on the Intron 5 Region of LMBR1 in Human Population
title_fullStr Intriguing Balancing Selection on the Intron 5 Region of LMBR1 in Human Population
title_full_unstemmed Intriguing Balancing Selection on the Intron 5 Region of LMBR1 in Human Population
title_short Intriguing Balancing Selection on the Intron 5 Region of LMBR1 in Human Population
title_sort intriguing balancing selection on the intron 5 region of lmbr1 in human population
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2492787/
https://www.ncbi.nlm.nih.gov/pubmed/18698406
http://dx.doi.org/10.1371/journal.pone.0002948
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