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asp (abnormal spindle) homolog
Symbols ASPM; ASP; MCPH5; DKFZp686N06184; FLJ10517; FLJ10549; FLJ43117; Calmbp1
External IDs OMIM605481 MGI1334448 HomoloGene7650 GeneCards: ASPM Gene
Species Human Mouse
Entrez 259266 12316
Ensembl ENSG00000066279 ENSMUSG00000033952
UniProt Q8IZT6 Q4G1G9
RefSeq (mRNA) NM_018136 NM_009791
RefSeq (protein) NP_060606 NP_033921
Location (UCSC) Chr 1:
195.32 - 195.38 Mb
Chr 1:
141.35 - 141.39 Mb
PubMed search [1] [2]

ASPM is a human gene whose defective forms are associated with autosomal recessive primary microcephaly.[1]

"ASPM" is an acronym for "Abnormal Spindle-like, Microcephaly-associated", which reflects its being an ortholog to the Drosophila melanogaster "abnormal spindle" (asp) gene. ASPM is located on chromosome 1, band q31 (1q31).[2]

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.[3]



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% in populations of the Middle East and Europe, it is less frequent in East Asia, and has low frequencies among Sub-Saharan African populations.[4] It is also found with an unusually high percentage among the peoples of Papua New Guinea, with a 59.4% occurrence.[5]

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.[6] 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[7] 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.[5][8]

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.[8][9][10] They suggest that the current distribution of the alleles could be explained by a founder effect, following an 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 languages like Chinese or many Sub-Saharan African languages.[11]

new ASPM allele distribution (Black).


Instead of ASPM, the DAB1 gene, which also increases the density of neural matter, appears to have come under selection in the Chinese.[12]

See also

External Links


  1. ^ Pattison L, Crow YJ, Deeble VJ, Jackson AP, Jafri H, Rashid Y, Roberts E, Woods CG (December 2000). "A fifth locus for primary autosomal recessive microcephaly maps to chromosome 1q31". Am. J. Hum. Genet. 67 (6): 1578–80. doi:10.1086/316910. PMID 11078481.  
  2. ^ Bond J, Roberts E, Mochida GH, Hampshire DJ, Scott S, Askham JM, Springell K, Mahadevan M, Crow YJ, Markham AF, Walsh CA, Woods CG (October 2002). "ASPM is a major determinant of cerebral cortical size". Nat. Genet. 32 (2): 316–20. doi:10.1038/ng995. PMID 12355089.  
  3. ^ Bähler M, Rhoads A (February 2002). "Calmodulin signaling via the IQ motif". FEBS Lett. 513 (1): 107–13. doi:10.1016/S0014-5793(01)03239-2. PMID 11911888.  
  4. ^ Evans PD, Gilbert SL, Mekel-Bobrov N, Vallender EJ, Anderson JR, Vaez-Azizi LM, Tishkoff SA, Hudson RR, Lahn BT (September 2005). "Microcephalin, a gene regulating brain size, continues to evolve adaptively in humans". Science 309 (5741): 1717–20. doi:10.1126/science.1113722. PMID 16151009. Lay summary – New York Times: Researchers Say Human Brain Is Still Evolving.  
  5. ^ a b Mekel-Bobrov N, Gilbert SL, Evans PD, Vallender EJ, Anderson JR, Hudson RR, Tishkoff SA, Lahn BT (September 2005). "Ongoing adaptive evolution of ASPM, a brain size determinant in Homo sapiens". Science 309 (5741): 1720–2. doi:10.1126/science.1116815. PMID 16151010.  
  6. ^ Per the 2006 Discovery Channel/Channel 4 documentary series What Makes Us Human?
  7. ^ Inman M (2005). "Human brains enjoy ongoing evolution". New Scientist.  
    Evans PD, Gilbert SL, Mekel-Bobrov N, et al. (September 2005). "Microcephalin, a gene regulating brain size, continues to evolve adaptively in humans". Science (journal) 309 (5741): 1717–20. doi:10.1126/science.1113722. PMID 16151009.  
  8. ^ a b Currat M, Excoffier L, Maddison W, Otto SP, Ray N, Whitlock MC, Yeaman S (July 2006). "Comment on "Ongoing adaptive evolution of ASPM, a brain size determinant in Homo sapiens" and "Microcephalin, a gene regulating brain size, continues to evolve adaptively in humans"". Science 313 (5784): 172; author reply 172. doi:10.1126/science.1122712. PMID 16840683.  
  9. ^ Woods RP, Freimer NB, De Young JA, Fears SC, Sicotte NL, Service SK, Valentino DJ, Toga AW, Mazziotta JC (June 2006). "Normal variants of Microcephalin and ASPM do not account for brain size variability". Hum. Mol. Genet. 15 (12): 2025–9. doi:10.1093/hmg/ddl126. PMID 16687438.  
  10. ^ Mekel-Bobrov N, Posthuma D, Gilbert SL, Lind P, Gosso MF, Luciano M, Harris SE, Bates TC, Polderman TJ, Whalley LJ, Fox H, Starr JM, Evans PD, Montgomery GW, Fernandes C, Heutink P, Martin NG, Boomsma DI, Deary IJ, Wright MJ, de Geus EJ, Lahn BT (March 2007). "The ongoing adaptive evolution of ASPM and Microcephalin is not explained by increased intelligence". Hum. Mol. Genet. 16 (6): 600–8. doi:10.1093/hmg/ddl487. PMID 17220170.  
  11. ^ Dediu D, Ladd DR (June 2007). "Linguistic tone is related to the population frequency of the adaptive haplogroups of two brain size genes, ASPM and Microcephalin". Proc. Natl. Acad. Sci. U.S.A. 104 (26): 10944–9. doi:10.1073/pnas.0610848104. PMID 17537923. Lay summary – New Scientist: Genes may help people learn Chinese.  
  12. ^ Wade N (2007-06-26). "Humans Have Spread Globally, and Evolved Locally -". New York Times. Retrieved 2009-08-01.  


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