Physical and transcript mapping in the vicinity of chromosome breakpoints associated with Beckwith-Wiedemann Syndrome and a rhabdoid tumor
- Roswell Park Cancer Institute, Buffalo, NY (United States); and others
The cloning and analysis of chromosome rearrangements associated with disease have led to the identification of genes whose alterations contribute to the development of the disease phenotype. Using fluorescence in situ hybridization (FISH), pulsed-field gel electrophoresis (PFGE), and several cosmid markers, the 11p15.5 chromosome rearrangement breakpoints of three Beckwith-Wiedemann Syndrome (BWS) patients and a rhabdoid tumor were located between D11S679 and IGF2, an interval no larger than 675 kb. PFGE indicated that none of the known genes just distal to the breakpoints (i.e., TH, INS, IGF2, H19) were directly altered by these chromosome rearrangements. These four breakpoints may be affecting an unidentified gene(s) relevant to BWS or rhabdoid tumor development. Alternatively, these rearrangements might be disrupting the genomic imprinting of IGF2, H19, and/or additional unknown imprinted loci in the region. One cosmid was shown to span a BWS inversion breakpoint. This cosmid has been used in a cDNA selection protocol utilizing a pool of amplified primary cDNA corresponding to RNA isolated from seven different tissues. Six putative cDNA fragments, two of which are conserved in rodent DNA, have been identified that correctly map back to this cosmid. These clones, as well as cDNA fragments selected by other nearby cosmids and YACs, are being characterized by PFGE, Northern and Zoo blot analysis and sequencing.
- OSTI ID:
- 133339
- Report Number(s):
- CONF-941009-; ISSN 0002-9297; TRN: 95:005313-0066
- Journal Information:
- American Journal of Human Genetics, Vol. 55, Issue Suppl.3; Conference: 44. annual meeting of the American Society of Human Genetics, Montreal (Canada), 18-22 Oct 1994; Other Information: PBD: Sep 1994
- Country of Publication:
- United States
- Language:
- English
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