Jackson, A., Eastwood, H., Bell, S.M., Adu, Jimi, Toomes, C., Carr, I.M., Roberts, E., Hampshire, D.J., Crow, Y.J., Mighell, A.J., Karbani, G., Jafri, H., Rashid, Y., Mueller, R.F., Markham, A.F. and Woods, C.G. (2002) Identification of microcephalin, a protein implicated in determining the size of the human brain The American Journal of Human Genetics, 71 (1). pp. 136-142.Full text not available from this repository.
Primary microcephaly (MIM 251200) is an autosomal recessive neurodevelopmental condition in which there is a global reduction in cerebral cortex volume, to a size comparable with that of early hominids. We previously mapped the MCPH1 locus, for primary microcephaly, to chromosome 8p23, and here we report that a gene within this interval, encoding a BRCA1 C-terminal domain-containing protein, is mutated in MCPH1 families sharing an ancestral 8p23 haplotype. This gene, microcephalin, is expressed in the developing cerebral cortex of the fetal brain. Further study of this and related genes may provide important new insights into neocortical development and evolution.
|Item Type:||Journal article|
|Subjects:||B000 Health Professions > B100 Anatomy Physiology and Pathology|
|DOI (a stable link to the resource):||10.1086/341283|
|Faculties:||Faculty of Science and Engineering > School of Pharmacy and Biomolecular Sciences|
|Depositing User:||editor spbs|
|Date Deposited:||14 Jan 2008|
|Last Modified:||05 Mar 2015 15:08|
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