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PMID: 16443634 Published · ppublish English Journal Article

A novel domain suggests a ciliary function for ASPM, a brain size determining gene.

Bioinformatics (Oxford, England) ·Vol. 22 ·No. 9 ·2006-05-01 ·Pages 1031-5

Ponting CP

Abstract

The N-terminal domain of abnormal spindle-like microcephaly-associated protein (ASPM) is identified as a member of a novel family of ASH (ASPM, SPD-2, Hydin) domains. These domains are present in proteins associated with cilia, flagella, the centrosome and the Golgi complex, and in Hydin and OCRL whose deficiencies are associated with hydrocephalus and Lowe oculocerebrorenal syndrome, respectively. Genes encoding ASH domains thus represent good candidates for primary ciliary dyskinesias. ASPM has been proposed to function in neurogenesis and to be a major determinant of cerebral cortical size in humans. Support for this hypothesis stems from associations between mutations in ASPM and primary microcephaly, and from the rapid evolution of ASPM during recent hominid evolution. The identification of the ASH domain family instead indicates possible roles for ASPM in sperm flagellar or in ependymal cells' cilia. ASPM's rapid evolution may thus reflect selective pressures on ciliary function, rather than pressures on mitosis during neurogenesis.

MeSH Terms
Amino Acid Sequence Animals Body Patterning/physiology Brain/physiology,ultrastructure Cilia/physiology Humans Molecular Sequence Data Nerve Tissue Proteins/chemistry,genetics,metabolism Organ Size/physiology Protein Structure, Tertiary Quantitative Trait Loci/physiology Sequence Analysis, Protein Sequence Homology, Amino Acid Structure-Activity Relationship
Chemicals
ASPM protein, human Nerve Tissue Proteins
Authors & Affiliations
1 authors, click to expand affiliations / ORCID
Ponting Chris P
MRC Functional Genetics Unit, University of Oxford, Department of Human Anatomy and Genetics South Parks Road, Oxford OX1 3QX, UK. chris.ponting@anat.ox.ac.uk
Article Info
Journal
Bioinformatics (Oxford, England)
Abbr.
Bioinformatics
ISSN
1367-4803
Published
2006-05-01
Epub
2006-00-27
Pages
1031-5
Language
English
Region
England
NLM ID
9808944
Subset
IM
Grants
Medical Research Council · MC_U137761446 · United Kingdom
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