Journal article
Exclusion of epidermal growth factor and high-resolution physical mapping across the Rieger syndrome locus
American journal of human genetics, Vol.59(6), pp.1288-1296
12/1996
PMCID: PMC1914874
PMID: 8940274
Abstract
We have evaluated the 4q25-4q26 region where the autosomal dominant disorder Rieger syndrome has been previously mapped by linkage. We first excluded epidermal growth factor as a candidate gene by carrying out SSCP analysis of each of its 24 exons using a panel of seven unrelated individuals with Rieger syndrome. No evidence for etiologic mutations was detected in these individuals, although four polymorphic variants were identified, including three that resulted in amino acid changes. We next made use of two apparently balanced translocations, one familial and one sporadic, to identify a narrow physical localization likely to contain the gene or to be involved in regulation of gene function. Somatic cell hybrids were established from individuals with these balanced translocations, and these hybrids were used as a physical mapping resource for, first, preliminary mapping of the translocation breakpoints using known sequence tagged sites from chromosome 4 and then, after creating YAC and cosmids contigs encompassing the region, for fine mapping of those breakpoints. A cosmid contig spanning these breakpoints was identified and localized the gene to within approximately 150 kb of D4S193 on chromosome 4. The interval between the two independent translocations is approximately 50 kb in length and provides a powerful resource for gene identification.
Details
- Title: Subtitle
- Exclusion of epidermal growth factor and high-resolution physical mapping across the Rieger syndrome locus
- Creators
- Elena V Semina - Department of Pediatrics, The University of Iowa, Iowa City 52242-1083, USANicole A Datson - Department of Pediatrics, The University of Iowa, Iowa City 52242-1083, USANancy J Leysens - Department of Pediatrics, The University of Iowa, Iowa City 52242-1083, USABernhard U Zabel - Department of Pediatrics, The University of Iowa, Iowa City 52242-1083, USAJohn C. Carey - Department of Pediatrics, The University of Iowa, Iowa City 52242-1083, USAGraeme I Bell - Department of Pediatrics, The University of Iowa, Iowa City 52242-1083, USAPierre Bitoun - Department of Pediatrics, The University of Iowa, Iowa City 52242-1083, USAChristine Lindgren - Department of Pediatrics, The University of Iowa, Iowa City 52242-1083, USATeri Stevenson - Department of Pediatrics, The University of Iowa, Iowa City 52242-1083, USARune R Frants - Department of Pediatrics, The University of Iowa, Iowa City 52242-1083, USAGert-Jan van Ommen - Department of Pediatrics, The University of Iowa, Iowa City 52242-1083, USAJeffrey C. Murray - Department of Pediatrics, The University of Iowa, Iowa City 52242-1083, USA
- Resource Type
- Journal article
- Publication Details
- American journal of human genetics, Vol.59(6), pp.1288-1296
- PMID
- 8940274
- PMCID
- PMC1914874
- NLM abbreviation
- Am J Hum Genet
- ISSN
- 0002-9297
- eISSN
- 1537-6605
- Language
- English
- Date published
- 12/1996
- Academic Unit
- Anatomy and Cell Biology; Stead Family Department of Pediatrics; Epidemiology; Pediatric Dentistry; Craniofacial Anomalies Research Center; Dental Research
- Record Identifier
- 9984025676402771
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