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

Andrew P. Jackson; Helen Eastwood; Sandra M. Bell; Jimi Adu; Carmel Toomes; Ian M. Carr; Emma Roberts; Daniel J. Hampshire; Yanick J. Crow; Alan J. Mighell; Gulshan Karbani; Hussain Jafri; Yasmin Rashid; Robert F. Mueller; Alexander F. Markham; C. Geoffrey Woods

doi:10.1086/341283

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

Andrew P. Jackson, Helen Eastwood, Sandra M. Bell, Jimi Adu, Carmel Toomes, Ian M. Carr, Emma Roberts, Daniel J. Hampshire, Yanick J. Crow, Alan J. Mighell, Gulshan Karbani, Hussain Jafri, Yasmin Rashid, Robert F. Mueller, Alexander F. Markham, C. Geoffrey Woods

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, microcepbalin, 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	6
Journal	American Journal of Human Genetics
Volume	71
Issue number	1
DOIs	https://doi.org/10.1086/341283
Publication status	Published - 2002

Keywords

Adolescent
Adult
Amino Acid Sequence
Animals
Base Sequence
anatomy & histology: Brain
Child
genetics: Chromosomes, Human, Pair 8
Cloning, Molecular
genetics: DNA
DNA Mutational Analysis
genetics: Embryonic and Fetal Development
Female
Gene Expression Regulation, Developmental
Humans
In Situ Hybridization
Male
Mice
genetics: Microcephaly
Molecular Sequence Data
genetics: Nerve Tissue Proteins
genetics: Organ Size
genetics: RNA, Messenger
Sequence Homology, Amino Acid

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10.1086/341283

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Jackson, A. P., 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. American Journal of Human Genetics, 71(1), 136-142. https://doi.org/10.1086/341283

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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, microcepbalin, 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.",

keywords = "Adolescent, Adult, Amino Acid Sequence, Animals, Base Sequence, anatomy & histology: Brain, Child, genetics: Chromosomes, Human, Pair 8, Cloning, Molecular, genetics: DNA, DNA Mutational Analysis, genetics: Embryonic and Fetal Development, Female, Gene Expression Regulation, Developmental, Humans, In Situ Hybridization, Male, Mice, genetics: Microcephaly, Molecular Sequence Data, genetics: Nerve Tissue Proteins, genetics: Organ Size, genetics: RNA, Messenger, Sequence Homology, Amino Acid",

author = "Jackson, {Andrew P.} and Helen Eastwood and Bell, {Sandra M.} and Jimi Adu and Carmel Toomes and Carr, {Ian M.} and Emma Roberts and Hampshire, {Daniel J.} and Crow, {Yanick J.} and Mighell, {Alan J.} and Gulshan Karbani and Hussain Jafri and Yasmin Rashid and Mueller, {Robert F.} and Markham, {Alexander F.} and Woods, {C. Geoffrey}",

year = "2002",

doi = "10.1086/341283",

language = "English",

volume = "71",

pages = "136--142",

journal = "American Journal of Human Genetics",

issn = "0002-9297",

publisher = "Cell Press",

number = "1",

}

Jackson, AP, 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', 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, Andrew P.

AU - Eastwood, Helen

AU - Bell, Sandra M.

AU - Adu, Jimi

AU - Toomes, Carmel

AU - Carr, Ian M.

AU - Roberts, Emma

AU - Hampshire, Daniel J.

AU - Crow, Yanick J.

AU - Mighell, Alan J.

AU - Karbani, Gulshan

AU - Jafri, Hussain

AU - Rashid, Yasmin

AU - Mueller, Robert F.

AU - Markham, Alexander F.

AU - Woods, C. Geoffrey

PY - 2002

Y1 - 2002

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, microcepbalin, 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, microcepbalin, 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.

KW - Adolescent

KW - Adult

KW - Amino Acid Sequence

KW - Animals

KW - Base Sequence

KW - anatomy & histology: Brain

KW - Child

KW - genetics: Chromosomes, Human, Pair 8

KW - Cloning, Molecular

KW - genetics: DNA

KW - DNA Mutational Analysis

KW - genetics: Embryonic and Fetal Development

KW - Female

KW - Gene Expression Regulation, Developmental

KW - Humans

KW - In Situ Hybridization

KW - Male

KW - Mice

KW - genetics: Microcephaly

KW - Molecular Sequence Data

KW - genetics: Nerve Tissue Proteins

KW - genetics: Organ Size

KW - genetics: RNA, Messenger

KW - Sequence Homology, Amino Acid

U2 - 10.1086/341283

DO - 10.1086/341283

M3 - Article

SN - 0002-9297

VL - 71

SP - 136

EP - 142

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

IS - 1

ER -

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

Abstract

Keywords

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