cDNA cloning of the type 1 neurofibromatosis gene: complete sequence of the NF1 gene product
| Autor: | Lone B. Andersen, Douglas A. Marchuk, Roxanne Tavakkol, David H. Gutmann, Manju Swaroop, Margaret R. Wallace, Anna L. Mitchell, Francis S. Collins, Ann M. Saulino, Mark S. Boguski |
|---|---|
| Rok vydání: | 1991 |
| Předmět: |
Adult
Positional cloning Transcription Genetic Sequence analysis Molecular Sequence Data Gene product Complementary DNA Genes Neurofibromatosis 1 Genetics medicine Coding region Humans Amino Acid Sequence Neurofibromatosis Cloning Molecular Gene Neurofibromin 1 biology Base Sequence Brain Proteins DNA medicine.disease Molecular biology biology.protein Chromosomes Human Pair 17 |
| Zdroj: | Genomics. 11(4) |
| ISSN: | 0888-7543 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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