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

A. Jackson; H. Eastwood; S.M. Bell; Jimi Adu; C. Toomes; I.M. Carr; E. Roberts; D.J. Hampshire; Y.J. Crow; A.J. Mighell; G. Karbani; H. Jafri; Y. Rashid; R.F. Mueller; A.F. Markham; C.G. Woods

doi:10.1086/341283

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

A. Jackson, H. Eastwood, S.M. Bell, Jimi Adu, C. Toomes, I.M. Carr, E. Roberts, D.J. Hampshire, Y.J. Crow, A.J. Mighell, G. Karbani, H. Jafri, Y. Rashid, R.F. Mueller, A.F. Markham, C.G. Woods

University of Brighton

Research output: Contribution to journal › Article › peer-review

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.

Original language	English
Pages (from-to)	136-142
Number of pages	7
Journal	The American Journal of Human Genetics
Volume	71
Issue number	1
DOIs	https://doi.org/10.1086/341283
Publication status	Published - Jul 2002

Access to Document

10.1086/341283Licence: Unspecified

http://www.sciencedirect.com/science/article/pii/S000292970760041XLicence: Unspecified

Cite this

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., & 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), 136-142. https://doi.org/10.1086/341283

@article{483e2ff521184d9fba1ef45bf58e40a1,

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

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.",

author = "A. Jackson and H. Eastwood and S.M. Bell and Jimi Adu and C. Toomes and I.M. Carr and E. Roberts and D.J. Hampshire and Y.J. Crow and A.J. Mighell and G. Karbani and H. Jafri and Y. Rashid and R.F. Mueller and A.F. Markham and C.G. Woods",

year = "2002",

month = jul,

doi = "10.1086/341283",

language = "English",

volume = "71",

pages = "136--142",

journal = "The American Journal of Human Genetics",

number = "1",

}

Jackson, A, Eastwood, H, Bell, SM, Adu, J, Toomes, C, Carr, IM, Roberts, E, Hampshire, DJ, Crow, YJ, Mighell, AJ, Karbani, G, Jafri, H, Rashid, Y, Mueller, RF, Markham, AF & Woods, CG 2002, 'Identification of microcephalin, a protein implicated in determining the size of the human brain', The American Journal of Human Genetics, vol. 71, no. 1, pp. 136-142. https://doi.org/10.1086/341283

TY - JOUR

T1 - Identification of microcephalin, a protein implicated in determining the size of the human brain

AU - Jackson, A.

AU - Eastwood, H.

AU - Bell, S.M.

AU - Adu, Jimi

AU - Toomes, C.

AU - Carr, I.M.

AU - Roberts, E.

AU - Hampshire, D.J.

AU - Crow, Y.J.

AU - Mighell, A.J.

AU - Karbani, G.

AU - Jafri, H.

AU - Rashid, Y.

AU - Mueller, R.F.

AU - Markham, A.F.

AU - Woods, C.G.

PY - 2002/7

Y1 - 2002/7

N2 - 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.

AB - 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.

U2 - 10.1086/341283

DO - 10.1086/341283

M3 - Article

VL - 71

SP - 136

EP - 142

JO - The American Journal of Human Genetics

JF - The American Journal of Human Genetics

IS - 1

ER -

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

Abstract

Access to Document

Fingerprint

Cite this