Identification of microcephalin, a protein implicated in determining the size of the human brain

Jackson, A., Eastwood, H., Bell, S.M., Adu, J., 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.

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Official URL: http://www.sciencedirect.com/science/article/pii/S...

Abstract

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
ID Code:408
Deposited By:editor spbs
Deposited On:14 Jan 2008
Last Modified:04 Jun 2013 14:49

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