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    Microcephalin, a gene regulating brain size, continues to evolve adaptively in humans (2005)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 2005-09-10
    Description: The gene Microcephalin (MCPH1) regulates brain size and has evolved under strong positive selection in the human evolutionary lineage. We show that one genetic variant of Microcephalin in modern humans, which arose approximately 37,000 years ago, increased in frequency too rapidly to be compatible with neutral drift. This indicates that it has spread under strong positive selection, although the exact nature of the selection is unknown. The finding that an important brain gene has continued to evolve adaptively in anatomically modern humans suggests the ongoing evolutionary plasticity of the human brain. It also makes Microcephalin an attractive candidate locus for studying the genetics of human variation in brain-related phenotypes.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Evans, Patrick D -- Gilbert, Sandra L -- Mekel-Bobrov, Nitzan -- Vallender, Eric J -- Anderson, Jeffrey R -- Vaez-Azizi, Leila M -- Tishkoff, Sarah A -- Hudson, Richard R -- Lahn, Bruce T -- New York, N.Y. -- Science. 2005 Sep 9;309(5741):1717-20.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Howard Hughes Medical Institute, Department of Human Genetics, University of Chicago, Chicago, IL 60637, USA.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/16151009" target="_blank"〉PubMed〈/a〉
    Keywords: Adaptation, Biological ; African Continental Ancestry Group/genetics ; Alleles ; Amino Acid Substitution ; Asian Continental Ancestry Group/genetics ; *Biological Evolution ; Brain/*anatomy & histology/physiology ; European Continental Ancestry Group/genetics ; Exons ; Gene Conversion ; Gene Frequency ; Genetic Variation ; Genotype ; Haplotypes ; Humans ; Linkage Disequilibrium ; Microcephaly/genetics ; Nerve Tissue Proteins/*genetics ; Organ Size ; Polymorphism, Genetic ; Recombination, Genetic ; *Selection, Genetic ; Sequence Analysis, DNA ; Time
    Print ISSN: 0036-8075
    Electronic ISSN: 1095-9203
    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
    Published by American Association for the Advancement of Science (AAAS)
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  • 2
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    Ongoing adaptive evolution of ASPM, a brain size determinant in Homo sapiens (2005)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 2005-09-10
    Description: The gene ASPM (abnormal spindle-like microcephaly associated) is a specific regulator of brain size, and its evolution in the lineage leading to Homo sapiens was driven by strong positive selection. Here, we show that one genetic variant of ASPM in humans arose merely about 5800 years ago and has since swept to high frequency under strong positive selection. These findings, especially the remarkably young age of the positively selected variant, suggest that the human brain is still undergoing rapid adaptive evolution.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Mekel-Bobrov, Nitzan -- Gilbert, Sandra L -- Evans, Patrick D -- Vallender, Eric J -- Anderson, Jeffrey R -- Hudson, Richard R -- Tishkoff, Sarah A -- Lahn, Bruce T -- New York, N.Y. -- Science. 2005 Sep 9;309(5741):1720-2.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Howard Hughes Medical Institute, Department of Human Genetics, University of Chicago, Chicago, IL 60637, USA.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/16151010" target="_blank"〉PubMed〈/a〉
    Keywords: Adaptation, Biological ; African Continental Ancestry Group ; Animals ; Asian Continental Ancestry Group/genetics ; *Biological Evolution ; Brain/*anatomy & histology/physiology ; European Continental Ancestry Group ; Gene Conversion ; Gene Frequency ; Genotype ; Haplotypes ; Humans ; Linkage Disequilibrium ; Models, Genetic ; Nerve Tissue Proteins/*genetics ; Organ Size ; Pan troglodytes/genetics ; Phylogeny ; Polymorphism, Genetic ; Recombination, Genetic ; *Selection, Genetic ; Sequence Analysis, DNA ; Time
    Print ISSN: 0036-8075
    Electronic ISSN: 1095-9203
    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
    Published by American Association for the Advancement of Science (AAAS)
    Location Call Number Expected Availability
    BibTip Others were also interested in ...
    PAPER CURRENT
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