Journal article
Closing in on the Rieger syndrome gene on 4q25: mapping translocation breakpoints within a 50-kb region
American journal of human genetics, Vol.59(6), pp.1297-1305
12/1996
PMCID: PMC1914859
PMID: 8940275
Abstract
Rieger syndrome (RGS) is an autosomal dominant disorder of morphogenesis affecting mainly the formation of the anterior eye chamber and of the teeth. RGS has been localized to human chromosome 4q25 by linkage to epidermal growth factor (EGF). We have constructed a detailed physical map and a YAC contig of the genomic region encompassing the EGF locus. Using FISH, several YACs could be shown to cross the breakpoint in two independent RGS patients with balanced 4q translocations. Alu- and LINE-fragmentation of a 2.4-Mb YAC generated a panel of shorter YACs ranging in size from 2.4 Mb to 75 kb. Several fragmentation YACs were subcloned in cosmids, which were mapped to specific subregions of the original YAC by hybridization to the fragmentation panel to further refine the localization of the translocation breakpoints, allowing mapping of the breakpoints to within the most-telomeric 200 kb of the original 2.4-Mb YAC. FiberFISH of cosmids located in this 200-kb region mapped the two translocation breakpoints within a 50-kb region approximately 100-150 kb centromeric to D4S193, significantly narrowing down the candidate region for RGS. The mapping data and resources reported here should facilitate the identification of a gene implicated in Rieger syndrome.
Details
- Title: Subtitle
- Closing in on the Rieger syndrome gene on 4q25: mapping translocation breakpoints within a 50-kb region
- Creators
- Nicole A Datson - MGC-Department of Human Genetics, Leiden University, The NetherlandsElena Semina - University of IowaAndre A. A van Staalduinen - MGC-Department of Human Genetics, Leiden University, The NetherlandsHans G Dauwerse - MGC-Department of Human Genetics, Leiden University, The NetherlandsEric J Meershoek - MGC-Department of Human Genetics, Leiden University, The NetherlandsJoris J Heus - MGC-Department of Human Genetics, Leiden University, The NetherlandsRune R Frants - MGC-Department of Human Genetics, Leiden University, The NetherlandsJohan T den Dunnen - MGC-Department of Human Genetics, Leiden University, The NetherlandsJeffrey C Murray - University of IowaGert-Jan B van Ommen - MGC-Department of Human Genetics, Leiden University, The Netherlands
- Resource Type
- Journal article
- Publication Details
- American journal of human genetics, Vol.59(6), pp.1297-1305
- PMID
- 8940275
- PMCID
- PMC1914859
- 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
- 9984025676302771
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