title: Imprinting analysis of three genes in the Prader-Willi/Angelman region: SNRPN, E6-associated protein, and PAR-2 (D15S225E).
abstract: In order to identify genes in the Prader-Willi/Angelman syndrome critical region, radiolabeled cDNA probes from poly(A)+ RNA from mouse tissues were used to identify potential exon-containing genomic DNA fragments in cosmid or phage clones from appropriate yeast artificial chromosomes, and these fragments were subsequently used to screen human cDNA libraries. A mouse brain cDNA probe was effective in detecting control genes of various abundance including small nuclear ribonucleoprotein polypeptide N (SNRPN), hypoxanthine-guanine phosphoribosyl transferase, glyceraldehyde-3-phosphate dehydrogenase, and beta-actin. Two genes mapping within the Angelman syndrome critical region were isolated. One gene was found to encode the E6-associated protein (E6-AP; gene symbol HPVE6A), a protein which interacts with the E6 protein of human papilloma virus. The other gene is previously uncharacterized and is designated PAR-2 (D15S225E) for Prader-Willi and Angelman region-gene 2. Imprinting analysis using reverse transcription-polymerase chain reaction of RNA from fibroblasts and lymphoblasts of deletion Prader-Willi and Angelman patients demonstrated imprinting of SNRPN with exclusive expression from the paternal allele, but E6-AP and PAR-2 were not imprinted in these cultured human cells. The ability to analyze for imprinting and expression of SNRPN and other genes in this region in cultured human cells will be a valuable tool for analyzing the molecular basis of the Prader-Willi and Angelman syndromes, although imprinting may differ between cultured cells and tissues.(ABSTRACT TRUNCATED AT 250 WORDS)
authors.affiliation: Institute for Molecular Genetics, Baylor College of Medicine, Houston, TX 77030.
authors.forename: M
authors.initials: M
authors.lastname: Nakao
authors.forename: J S
authors.initials: JS
authors.lastname: Sutcliffe
authors.forename: B
authors.initials: B
authors.lastname: Durtschi
authors.forename: A
authors.initials: A
authors.lastname: Mutirangura
authors.forename: D H
authors.initials: DH
authors.lastname: Ledbetter
authors.forename: A L
authors.initials: AL
authors.lastname: Beaudet
mesh_terms: D017204:Angelman Syndrome / Q000235:genetics*; D000818:Animals; D001324:Autoantigens / Q000096:biosynthesis / Q000235:genetics*; D001483:Base Sequence; D002478:Cells, Cultured; D002884:Chromosomes, Human, Pair 15; D018076:DNA, Complementary / Q000235:genetics; D005260:Female; D005786:Gene Expression Regulation; D005796:Genes; D006801:Humans; D008297:Male; D051379:Mice; D008969:Molecular Sequence Data; D010290:Parents; D011218:Prader-Willi Syndrome / Q000235:genetics*; D017411:Ribonucleoproteins, Small Nuclear / Q000096:biosynthesis / Q000235:genetics*; D044767:Ubiquitin-Protein Ligases; D014764:Viral Proteins / Q000096:biosynthesis / Q000235:genetics*; D055517:snRNP Core Proteins
chemical_list: D001324:Autoantigens; D018076:DNA, Complementary; D017411:Ribonucleoproteins, Small Nuclear; C526417:SNRPN protein, human; D014764:Viral Proteins; D055517:snRNP Core Proteins; C471639:UBE3A protein, human; D044767:Ubiquitin-Protein Ligases