Journal article
Loss of the SKI proto-oncogene in individuals affected with 1p36 deletion syndrome is predicted by strain-dependent defects in Ski −/− mice
Nature genetics, Vol.30(1), pp.106-109
01/2002
DOI: 10.1038/ng770
PMID: 11731796
Abstract
Experiments involving overexpression of Ski have suggested that this gene is involved in neural tube development and muscle differentiation. In agreement with these findings, Ski−/− mice display a cranial neural tube defect that results in exencephaly and a marked reduction in skeletal muscle mass. Here we show that the penetrance and expressivity of the phenotype changes when the null mutation is backcrossed into the C57BL6/J background, with the principal change involving a switch from a neural tube defect to midline facial clefting. Other defects, including depressed nasal bridge, eye abnormalities, skeletal muscle defects and digit abnormalities, show increased penetrance in the C57BL6/J background. These phenotypes are interesting because they resemble some of the features observed in individuals diagnosed with 1p36 deletion syndrome, a disorder caused by monosomy of the short arm of human chromosome 1p (refs. 6-9). These similarities prompted us to re-examine the chromosomal location of human SKI and to determine whether SKI is included in the deletions of 1p36. We found that human SKI is located at distal 1p36.3 and is deleted in all of the individuals tested so far who have this syndrome. Thus, SKI may contribute to some of the phenotypes common in 1p36 deletion syndrome, and particularly to facial clefting.
Details
- Title: Subtitle
- Loss of the SKI proto-oncogene in individuals affected with 1p36 deletion syndrome is predicted by strain-dependent defects in Ski −/− mice
- Creators
- Heidi A Heilstedt - Department of Molecular and Human Genetics, Baylor College of MedicineJeffrey C Murray - Department of Pediatrics, University of IowaEd Stavnezer - Department of Biochemistry, Case Western Reserve UniversityClemencia Colmenares - Department of Cancer Biology, Lerner Research Institute, Cleveland Clinic FoundationLisa G Shaffer - Department of Molecular and Human Genetics, Baylor College of MedicineStuart Schwartz - Department of Human Genetics, University Hospital Research Institute and Case Western Reserve UniversityMichael Berk - Department of Cancer Biology, Lerner Research Institute, Cleveland Clinic Foundation
- Resource Type
- Journal article
- Publication Details
- Nature genetics, Vol.30(1), pp.106-109
- DOI
- 10.1038/ng770
- PMID
- 11731796
- NLM abbreviation
- Nat Genet
- ISSN
- 1061-4036
- eISSN
- 1546-1718
- Language
- English
- Date published
- 01/2002
- Academic Unit
- Anatomy and Cell Biology; Stead Family Department of Pediatrics; Epidemiology; Pediatric Dentistry; Craniofacial Anomalies Research Center; Dental Research
- Record Identifier
- 9984025376302771
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