Preaxial polydactyly/triphalangeal thumb is associated with changed transcription factor-binding affinity in a family with a novel point mutation in the long-range cis-regulatory element ZRS-Reference-Cited by-同舟云学术

Preaxial polydactyly/triphalangeal thumb is associated with changed transcription factor-binding affinity in a family with a novel point mutation in the long-range cis-regulatory element ZRS

Published:2010-01-13 Issue:6 Volume:18 Page:733-736
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Farooq Muhammad,Troelsen Jesper T,Boyd Mette,Eiberg Hans,Hansen Lars,Hussain Muhammad Sajid,Rehman Shoaib ur,Azhar Aysha,Ali Amjad,Bakhtiar Syeda Marriam,Tommerup Niels,Baig Shahid Mahmood,Kjaer Klaus W

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/ejhg2009225.pdf

Reference12 articles.

1. Lettice LA, Horikoshi T, Heaney SJ et al: Disruption of a long-range cis-acting regulator for Shh causes preaxial polydactyly. Proc Natl Acad Sci USA 2002; 99: 7548–7553.

2. Lettice LA, Heaney SJ, Purdie LA et al: A long-range Shh enhancer regulates expression in the developing limb and fin and is associated with preaxial polydactyly. Hum Mol Genet 2003; 12: 1725–1735.

3. Sagai T, Masuya H, Tamura M et al: Phylogenetic conservation of a limb-specific, cis-acting regulator of sonic hedgehog (Shh). Mamm Genome 2004; 15: 23–34.

4. Klopocki E, Ott CE, Benatar N, Ullmann R, Mundlos S, Lehmann K : A microduplication of the long range SHH limb regulator (ZRS) is associated with triphalangeal thumb-polysyndactyly syndrome. J Med Genet 2008; 45: 370–375.

5. Sun M, Ma F, Zeng X et al: Triphalangeal thumb-polysyndactyly syndrome and syndactyly type IV are caused by genomic duplications involving the long range, limb-specific SHH enhancer. J Med Genet 2008; 45: 589–595.

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