Towards the cloning of imprinted genes in the Prader-Willi/Angelman region of chromosome 15q11-q13
- Baylor College of Medicine, Houston, TX (United States); and others
Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are distinct clinical phenotypes resulting from paternal and maternal deficiencies respectively in human chromosome 15q11-q13. The data suggest the presence of oppositely imprinted genes in the region, and the gene for small nuclear ribonucleoprotein-associated polypeptide N (SNRPN) has been identified as a candidate gene for PWS. Previous strategies for positional cloning identified a number of transcripts from the PWS/AS region, and two of them, PAR-5 (D15S226E) and PAR-1 (D15S227E), are paternally expressed in cultured human cells from patients deleted for 15q11-q13 as is SNRPN. Cosmid contig maps have been developed from the following YACs (contained loci in parentheses): 307A12 (D15S13), 457B4 (SNRPN), 132D4 (D15S10), A229A2, and 378A12 (D15S113), to facilitate molecular studies of PWS and AS. Exon trapping has been employed to isolate putative exons from these overlapping cosmids. Two trapped fragments from the D15S113 region and one fragment from the SNRPN region has been isolated. Sequence information is available for all of the fragments. In addition to imprinting analysis in cultured human cells, we have developed a method to detect imprinting in mouse and human using a GC-clamped denaturing gradient gel electrophoresis strategy, in combination with reverse transcription-polymerase chain reaction. The imprinting analyses of putative exons are in progress to investigate their possible candidacy for involvement in PWS or AS phenotypes.
- OSTI ID:
- 134450
- Report Number(s):
- CONF-941009-; ISSN 0002-9297; TRN: 95:005313-1184
- 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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BASIC STUDIES
HUMAN CHROMOSOME 15
GENETIC MAPPING
CHROMOSOMAL ABERRATIONS
GENES
TRANSCRIPTION
DNA-CLONING
FRAGMENTATION
HEREDITARY DISEASES
GENETICS
PATIENTS
PHENOTYPE
DETECTION
POLYPEPTIDES
BIOLOGICAL MARKERS
DNA SEQUENCING
POLYMERASE CHAIN REACTION
CONTIGS
EXONS
ELECTROPHORESIS