TY - JOUR
T1 - cDNA cloning of the type 1 neurofibromatosis gene
T2 - Complete sequence of the NF1 gene product
AU - Marchuk, Douglas A.
AU - Saulino, Ann M.
AU - Tavakkol, Roxanne
AU - Swaroop, Manju
AU - Wallace, Margaret R.
AU - Andersen, Lone B.
AU - Mitchell, Anna L.
AU - Gutmann, David H.
AU - Boguski, Mark
AU - Collins, Francis S.
N1 - Funding Information:
We thank D. Siemieniak for help with the GCG package of protein sequence analysis tools. An endothelial cell cDNA library was the gift of D. Ginsburg and a fetal muscle cDNA library was the gift of F. Boyce and L. Kunkel. We thank N. Dracopoli and J. Fountain for the melanoma strain SK-MEL-23. We thank J. Koh for help with primer extensions and B. Sandri for assistance with the figures. This work was supported by the Howard Hughes Medical Institute, a Young Investigator Award from the National Neurofibromatosis Foundation (M.R.W.), and the National Institutes of Health Grants NS23410 (F.S.C.) and HG00018 (D.A.M.).
PY - 1991/12
Y1 - 1991/12
N2 - Von Recklinghausen neurofibromatosis, or type 1 neurofibromatosis (NF1), is a common autosomal dominant disorder characterized by abnormalities in multiple tissues derived from the embryonic neural crest. Portions of the gene have been recently identified by positional cloning, and sequence analysis has shown homology to the GTPase activating protein (GAP) family. In this report we present the results of an extensive cDNA walk resulting in the cloning of the complete coding region of the NF1 transcript. Analysis of the sequences reveals an open reading frame of 2818 amino acids, although alternatively spliced products may code for different protein isoforms. The gene extends for approximately 300 kb on chromosome 17, with its promoter in a CpG-rich island.
AB - Von Recklinghausen neurofibromatosis, or type 1 neurofibromatosis (NF1), is a common autosomal dominant disorder characterized by abnormalities in multiple tissues derived from the embryonic neural crest. Portions of the gene have been recently identified by positional cloning, and sequence analysis has shown homology to the GTPase activating protein (GAP) family. In this report we present the results of an extensive cDNA walk resulting in the cloning of the complete coding region of the NF1 transcript. Analysis of the sequences reveals an open reading frame of 2818 amino acids, although alternatively spliced products may code for different protein isoforms. The gene extends for approximately 300 kb on chromosome 17, with its promoter in a CpG-rich island.
UR - http://www.scopus.com/inward/record.url?scp=0026319619&partnerID=8YFLogxK
U2 - 10.1016/0888-7543(91)90017-9
DO - 10.1016/0888-7543(91)90017-9
M3 - Article
C2 - 1783401
AN - SCOPUS:0026319619
SN - 0888-7543
VL - 11
SP - 931
EP - 940
JO - Genomics
JF - Genomics
IS - 4
ER -