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Accelerated Evolution of the ASPM Gene Controlling Brain Size Begins Prior to Human Brain Expansion

Primary microcephaly (MCPH) is a neurodevelopmental disorder characterized by global reduction in cerebral cortical volume. The microcephalic brain has a volume comparable to that of early hominids, raising the possibility that some MCPH genes may have been evolutionary targets in the expansion of t...

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Autores principales: Kouprina, Natalay, Pavlicek, Adam, Mochida, Ganeshwaran H, Solomon, Gregory, Gersch, William, Yoon, Young-Ho, Collura, Randall, Ruvolo, Maryellen, Barrett, J. Carl, Woods, C. Geoffrey, Walsh, Christopher A, Jurka, Jerzy, Larionov, Vladimir
Formato: Texto
Lenguaje:English
Publicado: Public Library of Science 2004
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC374243/
https://www.ncbi.nlm.nih.gov/pubmed/15045028
http://dx.doi.org/10.1371/journal.pbio.0020126
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author Kouprina, Natalay
Pavlicek, Adam
Mochida, Ganeshwaran H
Solomon, Gregory
Gersch, William
Yoon, Young-Ho
Collura, Randall
Ruvolo, Maryellen
Barrett, J. Carl
Woods, C. Geoffrey
Walsh, Christopher A
Jurka, Jerzy
Larionov, Vladimir
author_facet Kouprina, Natalay
Pavlicek, Adam
Mochida, Ganeshwaran H
Solomon, Gregory
Gersch, William
Yoon, Young-Ho
Collura, Randall
Ruvolo, Maryellen
Barrett, J. Carl
Woods, C. Geoffrey
Walsh, Christopher A
Jurka, Jerzy
Larionov, Vladimir
author_sort Kouprina, Natalay
collection PubMed
description Primary microcephaly (MCPH) is a neurodevelopmental disorder characterized by global reduction in cerebral cortical volume. The microcephalic brain has a volume comparable to that of early hominids, raising the possibility that some MCPH genes may have been evolutionary targets in the expansion of the cerebral cortex in mammals and especially primates. Mutations in ASPM, which encodes the human homologue of a fly protein essential for spindle function, are the most common known cause of MCPH. Here we have isolated large genomic clones containing the complete ASPM gene, including promoter regions and introns, from chimpanzee, gorilla, orangutan, and rhesus macaque by transformation-associated recombination cloning in yeast. We have sequenced these clones and show that whereas much of the sequence of ASPM is substantially conserved among primates, specific segments are subject to high Ka/Ks ratios (nonsynonymous/synonymous DNA changes) consistent with strong positive selection for evolutionary change. The ASPM gene sequence shows accelerated evolution in the African hominoid clade, and this precedes hominid brain expansion by several million years. Gorilla and human lineages show particularly accelerated evolution in the IQ domain of ASPM. Moreover, ASPM regions under positive selection in primates are also the most highly diverged regions between primates and nonprimate mammals. We report the first direct application of TAR cloning technology to the study of human evolution. Our data suggest that evolutionary selection of specific segments of the ASPM sequence strongly relates to differences in cerebral cortical size.
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spelling pubmed-3742432004-03-28 Accelerated Evolution of the ASPM Gene Controlling Brain Size Begins Prior to Human Brain Expansion Kouprina, Natalay Pavlicek, Adam Mochida, Ganeshwaran H Solomon, Gregory Gersch, William Yoon, Young-Ho Collura, Randall Ruvolo, Maryellen Barrett, J. Carl Woods, C. Geoffrey Walsh, Christopher A Jurka, Jerzy Larionov, Vladimir PLoS Biol Research Article Primary microcephaly (MCPH) is a neurodevelopmental disorder characterized by global reduction in cerebral cortical volume. The microcephalic brain has a volume comparable to that of early hominids, raising the possibility that some MCPH genes may have been evolutionary targets in the expansion of the cerebral cortex in mammals and especially primates. Mutations in ASPM, which encodes the human homologue of a fly protein essential for spindle function, are the most common known cause of MCPH. Here we have isolated large genomic clones containing the complete ASPM gene, including promoter regions and introns, from chimpanzee, gorilla, orangutan, and rhesus macaque by transformation-associated recombination cloning in yeast. We have sequenced these clones and show that whereas much of the sequence of ASPM is substantially conserved among primates, specific segments are subject to high Ka/Ks ratios (nonsynonymous/synonymous DNA changes) consistent with strong positive selection for evolutionary change. The ASPM gene sequence shows accelerated evolution in the African hominoid clade, and this precedes hominid brain expansion by several million years. Gorilla and human lineages show particularly accelerated evolution in the IQ domain of ASPM. Moreover, ASPM regions under positive selection in primates are also the most highly diverged regions between primates and nonprimate mammals. We report the first direct application of TAR cloning technology to the study of human evolution. Our data suggest that evolutionary selection of specific segments of the ASPM sequence strongly relates to differences in cerebral cortical size. Public Library of Science 2004-05 2004-03-23 /pmc/articles/PMC374243/ /pubmed/15045028 http://dx.doi.org/10.1371/journal.pbio.0020126 Text en Copyright: © 2004 Kouprina 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
Kouprina, Natalay
Pavlicek, Adam
Mochida, Ganeshwaran H
Solomon, Gregory
Gersch, William
Yoon, Young-Ho
Collura, Randall
Ruvolo, Maryellen
Barrett, J. Carl
Woods, C. Geoffrey
Walsh, Christopher A
Jurka, Jerzy
Larionov, Vladimir
Accelerated Evolution of the ASPM Gene Controlling Brain Size Begins Prior to Human Brain Expansion
title Accelerated Evolution of the ASPM Gene Controlling Brain Size Begins Prior to Human Brain Expansion
title_full Accelerated Evolution of the ASPM Gene Controlling Brain Size Begins Prior to Human Brain Expansion
title_fullStr Accelerated Evolution of the ASPM Gene Controlling Brain Size Begins Prior to Human Brain Expansion
title_full_unstemmed Accelerated Evolution of the ASPM Gene Controlling Brain Size Begins Prior to Human Brain Expansion
title_short Accelerated Evolution of the ASPM Gene Controlling Brain Size Begins Prior to Human Brain Expansion
title_sort accelerated evolution of the aspm gene controlling brain size begins prior to human brain expansion
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC374243/
https://www.ncbi.nlm.nih.gov/pubmed/15045028
http://dx.doi.org/10.1371/journal.pbio.0020126
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