@article{9b782997114d487b8f210d93d678fecb,
title = "Deletions and a translocation interrupt a cloned gene at the neurofibromatosis type 1 locus",
abstract = "Three new neurofibromatosis type 1 (NF1) mutations have been detected and characterized. Pulsed-field gel and Southern blot analyses reveal the mutations to be deletions of 190, 40, and 11 kb of DNA. The 11 kb deletion does not contain any of the previously characterized genes that lie between two NF1 translocation breakpoints, but it does include a portion of a rodent/human conserved DNA sequence previously shown to span one of the translocation breakpoints. By screening cDNA libraries with the conserved sequence, we identified a number of cDNA clones from the translocation breakpoint region (TBR), one of which hybridizes to an ∼11 kb mRNA. The TBR gene crosses at least one of the chromosome 17 translocation breakpoints found in NF1 patients. Furthermore, the newly characterized NF1 deletions remove internal exons of the TBR gene. Although these mutations might act by compromising regulatory elements affecting some other gene, these findings strongly suggest that the TBR gene is the NF1 gene.",
author = "David Viskochil and Buchberg, {Arthur M.} and Gangfeng Xu and Cawthon, {Richard M.} and Jeffrey Stevens and Wolff, {Roger K.} and Melanie Culver and Carey, {John C.} and Copeland, {Neal G.} and Jenkins, {Nancy A.} and Ray White and Peter O'Connell",
note = "Funding Information: The authors are indebted to M. Leppert, M. Skolnick, and P Bellerman for assistance in collecting patient samples and other members of the National Neurofibromatosis Foundation for participating in this study, Cl. Drayna for assistance in isolation of cDNA clones, J.-M. Lalouel for a critical reading of this manuscript, Ft. A. Hepler for assistance with the preparation of the manuscript, and B. Otterud for assistance with the figures. This work was supported in part by the National Neurofibromatosis Foundation (D. V) and the National Cancer Institute, Department of Health and Human Services, under NCI Contract NOl-CD74101 with Applied Biosciences Laboratories (A. M. B., N. G. C., and N. A. J.). R. W. is an Investigator, P DC. a Senior Associate, and R. M. C. an Associate of the Howard Hughes Medical Institute. The costs of publication of this article were defrayed in part by the payment of page charges. This article must therefore be hereby marked “advertisement” in accordance with 18 U.S.C. Section 1734 solely to indicate this fact.",
year = "1990",
month = jul,
day = "13",
doi = "10.1016/0092-8674(90)90252-A",
language = "English (US)",
volume = "62",
pages = "187--192",
journal = "Cell",
issn = "0092-8674",
publisher = "Elsevier B.V.",
number = "1",
}