Identification of the neurofibromatosis type 1 gene product

Journal Article · Thu Oct 31 23:00:00 EST 1991 · Proceedings of the National Academy of Sciences of the United States of America; (United States)

DOI:https://doi.org/10.1073/pnas.88.21.9658· OSTI ID:5702001

Gutmann, D H; Wood, D L; Collins, F S ^[1]

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1. Univ. of Michigan, Ann Arbor (United States)

The gene for neurofibromatosis type 1 (NF1) was recently identified by positional cloning. The complete cDNA encodes a polypeptide of 2818 amino acids. To study the NF1 gene product, antibodies were raised against both fusion proteins and synthetic peptides. Initial characterization of two anti-peptide antibodies and one fusion-protein antibody demonstrated a specific protein of {approx}250 kDa by both immunoprecipitation and immunoblotting. This protein was found in all tissues and cell lines examined and is detected in human, rat, and mouse tissues. To demonstrate that these antibodies specifically recognize the NF1 protein, additional fusion proteins containing the sequence specific to the synthetic peptide were generated. Both peptide antisera recognize the proper specific fusion proteins so generated. Immunoprecipitates using the peptide antisera were shown to recognize the same protein detected by immunoblotting with either the other peptide antiserum or the fusion-protein antiserum. Immunoblotting using antiserum specific to spatially distinct epitopes conducted on tissue homogenates demonstrated the NF1 protein in all adult tissues. Based on the homology between the NF1 gene product and members of the GTPase-activating protein (GAP) superfamily, the name NF1-GAP-related protein (NF1GRP) is suggested.

• OSTI ID: 5702001
• Journal Information: Proceedings of the National Academy of Sciences of the United States of America; (United States), Journal Name: Proceedings of the National Academy of Sciences of the United States of America; (United States) Vol. 88:21; ISSN 0027-8424; ISSN PNASA
• Country of Publication: United States
• Language: English

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59 BASIC BIOLOGICAL SCIENCES
AMINO ACIDS
BETA DECAY RADIOISOTOPES
BETA-MINUS DECAY RADIOISOTOPES
BIOASSAY
CARBOXYLIC ACIDS
CHROMOSOMAL ABERRATIONS
CHROMOSOMES
DAYS LIVING RADIOISOTOPES
DISEASES
DOMINANT MUTATIONS
DRUGS
ELECTROPHORESIS
ENZYME IMMUNOASSAY
ETIOLOGY
EVEN-ODD NUCLEI
GENES
GLIOMAS
HEREDITARY DISEASES
HUMAN CHROMOSOME 17
HUMAN CHROMOSOMES
IMMUNE SERUMS
IMMUNOASSAY
ISOTOPES
LIGHT NUCLEI
LIPOTROPIC FACTORS
METHIONINE
MUTATIONS
NEOPLASMS
NUCLEI
ORGANIC ACIDS
ORGANIC COMPOUNDS
ORGANIC SULFUR COMPOUNDS
PATIENTS
PROTEINS
RADIOISOTOPES
SULFUR 35
SULFUR ISOTOPES
TRANSLOCATION