ASPM (gene) and Gus Dugas: Difference between pages
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'''Augustin Joseph "Gus" Dugas''' (March 24, 1907 - April 14, 1997) was a baseball player. He batted left handed and threw left handed as well. He was born in [[Quebec, Canada]]. He died in [[Colchester, Connecticut]]. He played with the [[Pittsburgh Pirates]] from 1931 to 1933 then played one year with the [[Washington Senators]]. |
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{{protein |
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| Name = Abnormal spindle-like, microcephaly associated gene |
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| caption = |
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| image = |
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| width = |
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| HGNCid = 19048 |
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| Symbol = ASPM |
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| AltSymbols = MCPH5 |
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| EntrezGene = 259266 |
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| OMIM = 605481 |
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| RefSeq = NM_018136 |
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| UniProt = Q8IZT6 |
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| PDB = |
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| ECnumber = |
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| Chromosome = 1 |
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| Arm = q |
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| Band = 31 |
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| LocusSupplementaryData = |
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}} |
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'''''ASPM''''' is a [[human genetics|human gene]] whose defective forms are associated with [[autosome|autosomal]] recessive primary [[microcephaly]]. |
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"ASPM" is an acronym for "<u>A</u>bnormal <u>Sp</u>indle-like, <u>M</u>icrocephaly-associated", which reflects its being an [[ortholog]] to the ''[[Drosophila melanogaster]]'' "abnormal spindle" (''asp'') gene. ASPM is located on [[Chromosome 1 (human)|chromosome 1]], band q31 (1q31). |
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The mouse gene, ''Aspm'', is expressed in the primary sites of prenatal cerebral cortical neurogenesis. The difference between Aspm and ASPM is a single, large insertion coding for so-called IQ domains.{{ref|IQDomain}} |
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==Evolution== |
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A new [[allele]] (version) of ASPM appeared sometime between 14,100 and 500 years ago with a mean estimate of 5,800 years ago. The new allele has a frequency of about 50 percent in populations of the Middle East and Europe, it is less frequent in East Asia, and has low frequencies among Sub-Saharan African populations. <ref> |
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{{cite journal |
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| author = Evans, P.D., ''et al.'' |
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| year = 2005 |
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| title = ''Microcephalin'', a gene regulating brain size, continues to evolve adaptively in humans |
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| journal = [[Science (journal)|Science]] |
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| volume = 309 |
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| pages = 1717–20 |
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| doi = 10.1126/science.1113722 |
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| laysummary = http://www.nytimes.com/2005/09/08/science/08cnd-brain.html?ex=1283832000&en=631902c8dabfb269&ei=5090&partner=rssuserland&emc=rss |
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| laysource = New York Times: Researchers Say Human Brain Is Still Evolving |
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| pmid = 16151009}} |
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</ref> |
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The mean estimated age of the ASPM allele of 5,800 years ago, roughly correlates with the development of written language, spread of agriculture and development of cities.<ref>Per the 2006 [[Discovery Channel]]/[[Channel 4]] documentary series ''What Makes Us Human?''</ref> Currently, two alleles of this gene exist: the older (pre-5,800 years ago) and the newer (post-5,800 years ago). About 10% of humans have two copies of the new ASPM allele, while about 50% have two copies of the old allele. The other 40% of humans have one copy of each. Of those with an instance of the new allele, 50% of them are an identical copy <ref>{{cite journal |author=Inman M |title=Human brains enjoy ongoing evolution |journal=New Scientist |volume= |issue= |pages= |year=2005 |url=http://www.newscientist.com/article.ns?id=dn7974}}<br/>{{cite journal |author=Evans PD, Gilbert SL, Mekel-Bobrov N, ''et al'' |title=Microcephalin, a gene regulating brain size, continues to evolve adaptively in humans |journal=Science (journal) |volume=309 |issue=5741 |pages=1717–20 |year=2005 |month=Sep |pmid=16151009 |doi=10.1126/science.1113722 |url=}}</ref> suggesting a highly rapid spread from the original mutation. According to a hypothesis called a "selective sweep", the rapid spread of a mutation (such as the new ASPM) through the population indicates that the mutation is somehow advantageous to the individual.{{ref|ScienceArticle1}} As of today, there is no evidence to support the notion that the new ASPM allele increases intelligence, and some researchers dispute whether the spread of the allele even demonstrates selection<ref>{{cite journal |
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| author = Woods, R.P., ''et al.'' |
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| year = 2006 |
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| title = Normal variants of Microcephalin and ASPM do not account for brain size variability |
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| journal = [[Hum. Mol. Genet.]] |
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| volume = 15 |
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| issue = 12 |
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| pages = 2025–2029 |
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| doi = 10.1093/hmg/ddl126 |
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| pmid = 16687438}} |
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</ref> |
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<ref>{{cite journal |
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| author = Mekel-Bobrov, N., ''et al.'' |
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| title = The ongoing adaptive evolution of ASPM and Microcephalin is not explained by increased intelligence |
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| year = 2007 |
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| journal = [[Hum. Mol. Genet.]] |
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| pages = 600 |
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| doi = 10.1093/hmg/ddl487| volume = 16 |
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| pmid = 17220170 |
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}} |
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</ref> |
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{{ref|ScienceArticle}}{{ref|NewsArticle}}. They suggest that the current distribution of the alleles could be explained by a [[founder effect]], following an [[out of Africa hypothesis|out of Africa]] dispersal. However, statistical analysis has shown that the older forms of the gene are found more heavily in populations that speak [[tonal language]]s like Chinese.<ref>{{cite journal |author=Schultz N |title=Genes may help people learn Chinese |journal=New Scientist |volume= |issue= |pages= |year=2007 |url=http://www.newscientist.com/article/dn11939-genes-may-help-people-learn-chinese-.html}}<br/>{{cite journal |author=Dediu D, Ladd DR |title=Linguistic tone is related to the population frequency of the adaptive haplogroups of two brain size genes, ASPM and Microcephalin |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=104 |issue=26 |pages=10944–9 |year=2007 |month=Jun |pmid=17537923 |pmc=1904158 |doi=10.1073/pnas.0610848104 |url=}}</ref> |
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==Diversity== |
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Instead of ASPM, the [[DAB1]] gene, which also increases the density of neural matter, appears to have come under selection in the Chinese.<ref>[http://www.nytimes.com/2007/06/26/science/26human.html?_r=2&pagewanted=2&ex=1340596800&oref=slogin New York Times article]</ref> |
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==References== |
==References== |
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*http://www.baseball-reference.com/d/dugasgu01.shtml |
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{{reflist}} |
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{{DEFAULTSORT:Dugas, Gus}} |
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==Notes== |
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[[Category:1907 births]] |
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# {{note|IQdomain}} An IQ domain is a segment of [[DNA]] that codes for the IQ motif. |
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[[Category:1997 deaths]] |
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#::<font color="brown">IQ protein motif: [FILV]Qxxx[RK]Gxxx[RK]xx[FILVWY]</font> |
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[[Category:People from Quebec]] |
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#:The term "IQ" refers to the first two [[amino acid]]s of the motif: [[isoleucine]] (commonly) and [[glutamine]] (invariably). |
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[[Category:Pittsburgh Pirates players]] |
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# {{note|ScienceArticle1}} {{cite journal |
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[[Category:Washington Senators players]] |
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|author=Nitzan Mekel-Bobrov ''et al.'' |
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|title=Ongoing Adaptive Evolution of ''ASPM'', a Brain Size Determinant in Homo sapiens |
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|journal=Science |
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|year=2005 |
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|volume=309 |
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|issue=5741 |
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|pages=1720–2 |
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|doi= 10.1126/science.1116815 |
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|pmid=16151010}} |
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# {{note|ScienceArticle}} {{cite journal |
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|author=Mathias Currat ''et al.'' |
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|title=Comment on "Ongoing Adaptive Evolution of ''ASPM'', a Brain Size Determinant in Homo sapiens" |
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|journal=Science |
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|year=2006 |
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|volume=313 |
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|issue= 5784 |
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|pages=172 |
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|url=http://www.sciencemag.org/cgi/content/full/sci;313/5784/172a |
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|pmid=16840683 |
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|doi=10.1126/science.1122712}} |
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# {{note|NewsArticle}} following is one of a large number of similar news articles: |
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#:{{cite web |
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|title=Study Suggests Human Brains Still Evolving |
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|work=Live Science: Human Biology |
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|url=http://www.livescience.com/humanbiology/ap_050908_brain.html |
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|accessdate=November 26 |
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|accessyear=2005}} |
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# Kniffin, Cassandra L. ''et al.'' {{OMIM|605481|ABNORMAL SPINDLE-LIKE, MICROCEPHALY-ASSOCIATED; ASPM}} |
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#:{{cite web |
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|title=Bruce Lahn moving on to non-IQ projects? |
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|work=Live Science: Human Biology |
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|url=http://www.gnxp.com/blog/2006/06/bruce-lahn-moving-on-to-non-iq.php |
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|accessdate=June 16 |
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|accessyear=2006}} |
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{{1930s-baseball-pitcher-stub}} |
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[[Category:Central nervous system]] |
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[[Category:Genes]] |
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[[Category:Genes associated with genetic disorders]] |
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Revision as of 17:33, 13 October 2008
Augustin Joseph "Gus" Dugas (March 24, 1907 - April 14, 1997) was a baseball player. He batted left handed and threw left handed as well. He was born in Quebec, Canada. He died in Colchester, Connecticut. He played with the Pittsburgh Pirates from 1931 to 1933 then played one year with the Washington Senators.