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Gene Review

ASPM  -  asp (abnormal spindle) homolog,...

Homo sapiens

Synonyms: ASP, Abnormal spindle protein homolog, Abnormal spindle-like microcephaly-associated protein, Asp homolog, Calmbp1, ...
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High impact information on ASPM

  • Indeed, evolutionary analyses of Microcephalin and ASPM reveal evidence for positive selection during human and great ape evolution [1].
  • We now report a fifth locus, MCPH5, which is an 8-cM region mapping to chromosome 1q31, defined by the markers GATA135F02 and D1S1678 [2].
  • Primary autosomal recessive microcephaly: MCPH5 maps to 1q25-q32 [3].
  • We report homozygosity mapping of a new locus, MCPH5, with a maximum multipoint LOD score of 3.51 at marker D1S1723, in a family of Turkish origin [3].
  • Immunostaining of cultured human cells with antibodies revealed that ASPM is localized in the spindle poles during mitosis [4].

Biological context of ASPM

  • MCPH1 and ASPM both have very young single nucleotide polymorphism haplotypes associated with modern humans, and these genes are presumably still evolving in Homo sapiens [5].
  • Whereas aberration of ASPM is the most common cause of MCPH, MCPH1 patients can be more readily diagnosed by the finding of increased numbers of 'prophase-like cells' on routine cytogenetic investigation [6].
  • DNA-sequence analysis identified one known (Arg117X) and two novel (Trp1326X and Gln3060X) mutations in the three MCPH5-linked families in a homozygous state [7].
  • Our observation adds to the mutation spectrum of ASPM in primary microcephaly, and is to our knowledge the second example of a constitutional, reciprocal translocation responsible for a bona fide autosomal recessive phenotype [8].
  • Haplotype analysis suggests that the gene causing microcephaly is located between markers D1S3469 and D1S1660, which excludes the previously reported ASPM gene [9].

Anatomical context of ASPM


Other interactions of ASPM

  • Genetic analysis of primary microcephaly in Indian families: novel ASPM mutations [7].
  • The results were suggestive of linkage of three families to the MCPH5 locus and one family to the MCPH2 locus [7].
  • Here, we report that downregulation of endogenous ASPM by siRNA decreases protein levels of endogenous BRCA1 [12].


  1. Autosomal recessive primary microcephaly (MCPH): a review of clinical, molecular, and evolutionary findings. Woods, C.G., Bond, J., Enard, W. Am. J. Hum. Genet. (2005) [Pubmed]
  2. A fifth locus for primary autosomal recessive microcephaly maps to chromosome 1q31. Pattison, L., Crow, Y.J., Deeble, V.J., Jackson, A.P., Jafri, H., Rashid, Y., Roberts, E., Woods, C.G. Am. J. Hum. Genet. (2000) [Pubmed]
  3. Primary autosomal recessive microcephaly: MCPH5 maps to 1q25-q32. Jamieson, C.R., Fryns, J.P., Jacobs, J., Matthijs, G., Abramowicz, M.J. Am. J. Hum. Genet. (2000) [Pubmed]
  4. The microcephaly ASPM gene is expressed in proliferating tissues and encodes for a mitotic spindle protein. Kouprina, N., Pavlicek, A., Collins, N.K., Nakano, M., Noskov, V.N., Ohzeki, J., Mochida, G.H., Risinger, J.I., Goldsmith, P., Gunsior, M., Solomon, G., Gersch, W., Kim, J.H., Barrett, J.C., Walsh, C.A., Jurka, J., Masumoto, H., Larionov, V. Hum. Mol. Genet. (2005) [Pubmed]
  5. Molecular genetic determinants of human brain size. Tang, B.L. Biochem. Biophys. Res. Commun. (2006) [Pubmed]
  6. What primary microcephaly can tell us about brain growth. Cox, J., Jackson, A.P., Bond, J., Woods, C.G. Trends in molecular medicine. (2006) [Pubmed]
  7. Genetic analysis of primary microcephaly in Indian families: novel ASPM mutations. Kumar, A., Blanton, S.H., Babu, M., Markandaya, M., Girimaji, S.C. Clin. Genet. (2004) [Pubmed]
  8. A translocation breakpoint disrupts the ASPM gene in a patient with primary microcephaly. Pichon, B., Vankerckhove, S., Bourrouillou, G., Duprez, L., Abramowicz, M.J. Eur. J. Hum. Genet. (2004) [Pubmed]
  9. Evidence for a second gene for primary microcephaly at MCPH5 on chromosome 1. Wallerman, O., Van Eeghen, A., Ten Kate, L.P., Wadelius, C. Hereditas (2003) [Pubmed]
  10. Cortical malformation and pediatric epilepsy: a molecular genetic approach. Mochida, G.H. J. Child Neurol. (2005) [Pubmed]
  11. Expression of IQ-motif genes in human cells and ASPM domain structure. Rhoads, A., Kenguele, H. Ethnicity & disease. (2005) [Pubmed]
  12. The abnormal spindle-like, microcephaly-associated (ASPM) gene encodes a centrosomal protein. Zhong, X., Liu, L., Zhao, A., Pfeifer, G.P., Xu, X. Cell Cycle (2005) [Pubmed]
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