aspm gene



aspm

aspm

asp (abnormal spindle) homolog, microcephaly associated (Drosophila)
Identifiers
Symbol ASPM MCPH5
HUGO 19048
Entrez 259266
OMIM 605481
RefSeq NM_018136
UniProt Q8IZT6
Other data
Locus Chr. 1 q31

ASPM is a human gene associated with autosomal recessive primary microcephaly. A new version of ASPM appeared about 5,800 years ago and has spread to half the world's population, especially Europe and West Asia.

"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).

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.[1]

According to recent research regarding human evolution and cultural development, the most recent ASPM gene variation arose about 5,800 years ago, roughly correlating with the development of written language, spread of agriculture and development of cities. Currently, two variations of this gene exist: the older variation (pre-5,800 years ago) and the newer variation (post-5,800 years ago). About 10% of humans have two copies the "new" ASPM gene, while about 50% have two copies the "old" version. The other 40% of humans one copy of each. According to evolutionary theory, the rapid spread of a mutation (such as the new ASPM) through the population indicates that the mutation is somehow advantageous to the individual.[2] As of today, there is no evidence to support the notion that the new ASPM gene increases intelligence, and some researchers dispute whether the spread of the gene even demonstrates selection. [3][4]

Microcephalin 1

Microcephalin 1 is another recent but widespread mutation of a gene related to microcephaly.

References and notes

    1.   An IQ domain is a segment of DNA that codes for the IQ motif.
      IQ protein motif: [FILV]Qxxx[RK]Gxxx[RK]xx[FILVWY]
      The term "IQ" refers to the first two amino acids of the motif: isoleucine (commonly) and glutamine (invariably).
    2.   Nitzan Mekel-Bobrov et al. (2005). "Ongoing Adaptive Evolution of ASPM, a Brain Size Determinant in Homo sapiens". Science 309 (5741): 1720–1722. 
    3.   Mathias Currat et al. (2006). "Comment on "Ongoing Adaptive Evolution of ASPM, a Brain Size Determinant in Homo sapiens"". Science 313 (5784): 172. 
    4.   following is one of a large number of similar news articles:
      Study Suggests Human Brains Still Evolving. Live Science: Human Biology. Retrieved on November 26, 2005.
    5. Kniffin, Cassandra L. et al.. ABNORMAL SPINDLE-LIKE, MICROCEPHALY-ASSOCIATED; ASPM. OMIM at the NCBI. Retrieved on August 6, 2005.
      Bruce Lahn moving on to non-IQ projects?. Live Science: Human Biology. Retrieved on June 16, 2006.
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