PMID: 7581363Aug 1, 1995Paper

On unequal allelic expression of the neurofibromin gene in neurofibromatosis type 1

Human Molecular Genetics
S HoffmeyerW Krone

Abstract

The autosomal dominantly inherited disease neurofibromatosis type 1 (NF1) is caused by mutations of a large gene comprising 59 exons, which code for a protein with 2818 amino acids called neurofibromin. Employing an expressed polymorphic site in exon 5 of the neurofibromin gene, the expression of its alleles was analysed quantitatively by scanning radioactive RT-PCR fragments of this exon prepared from the RNA of fibroblast cell cultures from 15 NF1 patients and of white blood cells from one NF1 patient. Thirteen of the RNA preparations yielded unequal amounts of the allelic messages. The deviations of the expression ratios (A2:A1) from 1.0 ranged from -0.9 to +25.8. The allelic messages were equally represented in the RNA preparations from five informative healthy donors. Apart from fibroblasts this phenomenon could also be detected in keratinocytes, melanocytes from normally pigmented skin and melanocytes from a café-au-lait spot of one patient. Only one of three patients affected by stop mutations exhibited unequal allelic expression. When nuclear RNA from 10 of the 13 patients was examined, equal amounts of the primary transcripts were found (average ratio A2/A1: 1.08 +/- 0.07 S.E.M.), indicating that unequal expression on ...Continue Reading

Citations

Sep 1, 2006·Familial Cancer·Siân GriffithsMeena Upadhyaya
Jul 1, 1997·Journal of Medical Genetics·S D ColmanM R Wallace
Jun 17, 2010·Cancer Science·Guolin ChaiXijie Yu
Apr 16, 1998·American Journal of Human Genetics·S HoffmeyerW Krone
Jun 26, 2002·European Journal of Human Genetics : EJHG·Katharina WimmerLudwine Messiaen
Nov 28, 2007·Electrophoresis·Anja BrinckmannPeter Nürnberg
Feb 19, 2017·Human Genetics·Hildegard Kehrer-SawatzkiDavid N Cooper
Feb 6, 2020·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Myrthe J OttenhoffYpe Elgersma
Jan 10, 2017·Frontiers in Oncology·Cora A RickerCharles Keller
Oct 20, 2017·Pediatric Blood & Cancer·Soumen KhatuaRoger J Packer
Feb 12, 2021·Journal of Molecular Neuroscience : MN·Hongyu LuQuantang Pang

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