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Science 2 June 1989:
Vol. 244. no. 4908, pp. 1085 - 1087
DOI: 10.1126/science.2543076
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Articles

Science, Vol 244, Issue 4908, 1085-1087
Copyright © 1989 by American Association for the Advancement of Science

articles

Physical mapping of a translocation breakpoint in neurofibromatosis

JW Fountain, MR Wallace, MA Bruce, BR Seizinger, AG Menon, JF Gusella, VV Michels, MA Schmidt, GW Dewald, and FS Collins

Howard Hughes Medical Institute, University of Michigan, Ann Arbor 48109.

The gene for von Recklinghausen neurofibromatosis (NF1), one of the most common autosomal-dominant disorders of humans, was recently mapped to chromosome 17 by linkage analysis. The identification of two NF1 patients with balanced translocations that involved chromosome 17q11.2 suggests that the disease can arise by gross rearrangement of the NF1 locus, and that the NF1 gene might be identified by cloning the region around these translocation breakpoints. To further define the region of these translocations, a series of chromosome 17 Not I-linking clones has been mapped to proximal 17q and studied by pulsed-field gel electrophoresis. One clone, 17L1 (D17S133), clearly identifies the breakpoint in an NF1 patient with a t(1;17) translocation. A 2.3-megabase pulsed-field map of this region was constructed and indicates that the NF1 breakpoint is only 10 to 240 kilobases away from 17L1. This finding prepares the way for the cloning of NF1.


THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES:
Phosphoproteomic Analysis of the Mouse Brain Cytosol Reveals a Predominance of Protein Phosphorylation in Regions of Intrinsic Sequence Disorder.
M. O. Collins, L. Yu, I. Campuzano, S. G. N. Grant, and J. S. Choudhary (2008)
Mol. Cell. Proteomics 7, 1331-1348
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Human Cancer Syndromes: Clues to the Origin and Nature of Cancer.
E. R. Fearon (1997)
Science 278, 1043-1050
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The Johns Hopkins University Collaborative Schizophrenia Study: An Epidemiologic-Genetic Approach to Test the Heterogeneity Hypothesis and Identify Schizophrenia Susceptibility Genes.
A.E. Pulver, P.S. Wolyniec, D. Housman, H.H. Kazazian, S.E. Antonarakis, G. Nestadt, V.K. Lasseter, J.A. McGrath, B. Dombroski, M. Karayiorgou, et al. (1996)
Cold Spring Harb Symp Quant Biol 61, 797-814
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Neurofibromatosis Type 1: Beyond Positional Cloning.
D. H. Gutmann and F. S. Collins (1993)
Arch Neurol 50, 1185-1193
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Type 1 neurofibromatosis gene: identification of a large transcript disrupted in three NF1 patients.
M. Wallace, D. Marchuk, L. Andersen, R Letcher, H. Odeh, A. Saulino, J. Fountain, A Brereton, J Nicholson, A. Mitchell, et al. (1990)
Science 249, 181-186
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Neurofibromatosis 1 (Recklinghausen Disease) and Neurofibromatosis 2 (Bilateral Acoustic Neurofibromatosis) An Update.
J. J. Mulvihill, D. M. Parry, J. L. Sherman, A. Pikus, M. I. Kaiser-Kupfer, and R. Eldridge (1990)
Ann Intern Med 113, 39-52
   Abstract »    PDF »
Two NF1 translocations map within a 600-kilobase segment of 17q11.2.
P O'Connell, R Leach, R. Cawthon, M Culver, J Stevens, D Viskochil, R. Fournier, D. Rich, D. Ledbetter, and R White (1989)
Science 244, 1087-1088
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