Elsevier

Genomics

Volume 25, Issue 1, 1 January 1995, Pages 9-18
Genomics

Genomic organization of the neurofibromatosis 1 gene (NF1)

https://doi.org/10.1016/0888-7543(95)80104-TGet rights and content

Abstract

Neurofibromatosis 1 maps to chromosome band 17q11.2, and the NF1 locus has been partially characterized. Even though the full-length NF1 cDNA has been sequenced, the complete genomic structure of the NF1 gene has not been elucidated. The 5′ end of NF1 is embedded in a CpG island containing a NotI restriction site, and the remainder of the gene lies in the adjacent 350-kb NotI fragment. In our efforts to develop a comprehensive screen for NF1 mutations, we have isolated genomic DNA clones that together harbor the entire NF1 cDNA sequence. We have identified all intron-exon boundaries of the coding region and established that it is composed of 59 exons. Furthermore, we have defined the 3′-untranslated region (3′- UTR) of the NF1 gene; it spans approximately 3.5 kb of genomic DNA sequence and is continuous with the stop codon. Oligonucleotide primer pairs synthesized from exon-flanking DNA sequences were used in the polymerase chain reaction with cloned, chromosome 17-specific genomic DNA as template to amplify NF1 exons 1 through 27b and the exon containing the 3′- UTR separately. This information should be useful for implementing a comprehensive NF1 mutation screen using genomic DNA as template.

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Variable lengths of intronic sequence on both sides of NF1 exons 2 through 27b have been deposited with GenBank under Accession Nos. U17656-U17690. Continuous DNA sequence spanning exons 28 through 49 have been deposited under Accession No. L05367.

1

Present address: University of Texas Health Sciences Center-San Antonio, Department of Pathology, San Antonio, TX 78284.

2

Present address: Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA 02114.

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