| Literature DB >> 17186471 |
Patrick S Tarpey1, 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 Carpenter, Richard J Simensen, Charles E Schwartz, Roger E Stevenson, Gillian Turner, Michael Partington, Jozef Gecz, Michael R Stratton, P Andrew Futreal, 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.Entities:
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Year: 2006 PMID： 17186471 PMCID： PMC1698718 DOI： 10.1086/510137
Source DB: PubMed Journal: Am J Hum Genet ISSN： 0002-9297 Impact factor: 11.025