Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/22756
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Type: Journal article
Title: Mutations in the gene encoding the sigma 2 subunit of the adaptor protein 1 complex, AP1S2, cause X-linked mental retardation
Author: Tarpey, P.
Stevens, C.
Teague, J.
Edkins, S.
O'Meara, S.
Avis, T.
Barthorpe, S.
Buck, G.
Butler, A.
Cole, J.
Dicks, E.
Gray, K.
Halliday, K.
Harrison, R.
Hills, K.
Hinton, J.
Jones, D.
Menzies, A.
Mironenko, T.
Perry, J.
et al.
Citation: American Journal of Human Genetics, 2006; 79(6):1119-1124
Publisher: Univ Chicago Press
Issue Date: 2006
ISSN: 0002-9297
1537-6605
Statement of
Responsibility: 
Patrick S. Tarpey, Claire Stevens, Jon Teague, Sarah Edkins, Sarah O’Meara, Tim Avis, Syd Barthorpe, Gemma Buck, Adam Butler, Jennifer Cole, Ed Dicks, Kristian Gray, Kelly Halliday, Rachel Harrison, Katy Hills, Jonathon Hinton, David Jones, Andrew Menzies, Tatiana Mironenko, Janet Perry, Keiran Raine, David Richardson, Rebecca Shepherd, Alexandra Small, Calli Tofts, Jennifer Varian, Sofie West, Sara Widaa, Andy Yates, Rachael Catford, Julia Butler, Uma Mallya, Jenny Moon, Ying Luo, Huw Dorkins, Deborah Thompson, Douglas F. Easton, Richard Wooster, Martin Bobrow, Nancy Carpente, Richard J. Simensen, Charles E. Schwartz, Roger E. Stevenson, Gillian Turner, Michael Partington, Jozef Gecz, Michael R. Stratton, P. Andrew Futreal and F. Lucy Raymond
Abstract: In a systematic sequencing screen of the coding exons of the X chromosome in 250 families with X-linked mental retardation (XLMR), we identified two nonsense mutations and one consensus splice-site mutation in the AP1S2 gene on Xp22 in three families. Affected individuals in these families showed mild-to-profound mental retardation. Other features included hypotonia early in life and delay in walking. AP1S2 encodes an adaptin protein that constitutes part of the adaptor protein complex found at the cytoplasmic face of coated vesicles located at the Golgi complex. The complex mediates the recruitment of clathrin to the vesicle membrane. Aberrant endocytic processing through disruption of adaptor protein complexes is likely to result from the AP1S2 mutations identified in the three XLMR-affected families, and such defects may plausibly cause abnormal synaptic development and function. AP1S2 is the first reported XLMR gene that encodes a protein directly involved in the assembly of endocytic vesicles.
Keywords: CLATHRIN; IDENTIFICATION; ENDOCYTOSIS; AP-1; PITS; LIFE; ARH
Rights: Copyright © 2006 The American Society of Human Genetics Published by Elsevier Inc.
RMID: 0020061717
DOI: 10.1086/510137
Appears in Collections:General Practice publications

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