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  A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability

Huang, L., Jolly, L. A., Willis-Owen, S., Gardner, A., Kumar, R., Douglas, E., et al. (2012). A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability. The American Journal of Human Genetics, 91(4), 694-702. doi:10.1016/j.ajhg.2012.08.011.

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Item Permalink: http://hdl.handle.net/11858/00-001M-0000-000E-E87C-B Version Permalink: http://hdl.handle.net/11858/00-001M-0000-000E-E87D-9
Genre: Journal Article

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© 2012 Elsevier Inc.
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 Creators:
Huang, Lingli1, 2, Author
Jolly, Lachlan A.1, Author
Willis-Owen, Saffron1, Author
Gardner, Alison1, 3, Author
Kumar, Raman3, Author
Douglas, Evelyn1, Author
Shoubridge, Cheryl1, Author
Wieczorek, Dagmar4, Author
Tzschach, Andreas5, Author              
Cohen, Monika6, Author
Hackett, Anna7, Author
Field, Michael7, Author
Froyen, Guy8, Author
Hu, Hao C.5, Author              
Haas, Stefan9, Author              
Ropers, Hans-H.5, Author              
Kalscheuer, Vera M.10, Author              
Corbett, Mark A.1, Author
Gecz, Jozef1, 3, Author
Affiliations:
1Genetics and Molecular Pathology, SA Pathology, North Adelaide, SA 5006, Australia, ou_persistent22              
2Institute of Reproductive & Stem Cell Engineering, Central South University, Changsha 410004, China, ou_persistent22              
3Women’s and Children’s Health Research Institute, North Adelaide, SA 5006, Australia, ou_persistent22              
4Institut fuer Humangenetik, Universitaetsklinikum, Essen, Germany, ou_persistent22              
5Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, Berlin, Germany, ou_1433549              
6Kinderzentrum München, München, Germany, ou_persistent22              
7Genetics of Learning Disability Service, Hunter Genetics, Waratah, NSW 2298, Australia, ou_persistent22              
8Human Genome Laboratory, Center for Human Genetics, VIB Center for the Biology of Disease, KU Leuven, Leuven 3000, Belgium, ou_persistent22              
9Gene Structure and Array Design (Stefan Haas), Dept. of Computational Molecular Biology (Head: Martin Vingron), Max Planck Institute for Molecular Genetics, Max Planck Society, Berlin, Germany, ou_1479640              
10Chromosome Rearrangements and Disease (Vera Kalscheuer), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, Berlin, Germany, ou_1479642              

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 Abstract: The discovery of mutations causing human disease has so far been biased toward protein-coding regions. Having excluded all annotated coding regions, we performed targeted massively parallel resequencing of the nonrepetitive genomic linkage interval at Xq28 of family MRX3. We identified in the binding site of transcription factor YY1 a regulatory mutation that leads to overexpression of the chromatin-associated transcriptional regulator HCFC1. When tested on embryonic murine neural stem cells and embryonic hippocampal neurons, HCFC1 overexpression led to a significant increase of the production of astrocytes and a considerable reduction in neurite growth. Two other nonsynonymous, potentially deleterious changes have been identified by X-exome sequencing in individuals with intellectual disability, implicating HCFC1 in normal brain function.

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Language(s): eng - English
 Dates: 2012-09-20
 Publication Status: Published in print
 Pages: -
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 Table of Contents: -
 Rev. Method: Peer
 Identifiers: DOI: 10.1016/j.ajhg.2012.08.011
 Degree: -

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Title: The American Journal of Human Genetics
  Other : Am. J. Hum. Genet.
Source Genre: Journal
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Publ. Info: American Society of Human Genetics
Pages: - Volume / Issue: 91 (4) Sequence Number: - Start / End Page: 694 - 702 Identifier: ISSN: 0002-9297
CoNE: https://pure.mpg.de/cone/journals/resource/954925377893_1