ASPM is a gene located on human chromosome 1, band q31 (1q31) which is associated with autosomal recessive primary microcephaly. "ASPM" is an acronym for "Abnormal Spindle-like, Microcephaly-associated", which reflects its being an ortholog to the Drosophila melanogaster "abnormal spindle" (asp) gene.

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.

According to recent research regarding human evolution and cultural development, the ASPM gene variation arose about 5,800 years ago, roughly correlating with the development of written language, spread of agriculture and development of cities.

References and notes

1. An IQ domain is a segment of DNA that codes for the IQ motif.

   IQ protein motif: ^*Qxxx^*Gxxx^*xx^*

   The term "IQ" refers to the first two amino acids of the motif: isoleucine (commonly) and glutamine (invariably).

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Central nervous system | Genes | Genes associated with congenital genetic disorders