Home LiteratureArticle Details

PMID: 7774960 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, Non-P.H.S. Research Support, U.S. Gov't, P.H.S.

Genomic organization of the neurofibromatosis 1 gene (NF1).

Genomics ·Vol. 25 ·No. 1 ·1995-01-01 ·页码 9-18

Li Y, O'Connell P, Breidenbach HH, Cawthon R, Stevens J, Xu G, Neil S, Robertson M, White R, Viskochil D

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.

Related Genes

NF1

MeSH 主题词

Amino Acid Sequence Base Sequence Chromosome Mapping Chromosomes, Human, Pair 17 DNA/genetics,isolation & purification DNA Primers Exons Genes, Neurofibromatosis 1 Humans Introns Molecular Sequence Data Neurofibromin 1 Oligonucleotide Probes Polymerase Chain Reaction Protein Biosynthesis Proteins/genetics Restriction Mapping

化学物质

DNA Primers Neurofibromin 1 Oligonucleotide Probes Proteins DNA

作者与单位

共 10 位作者，点击展开单位 / ORCID

Li Y

Department of Human Genetics, Eccles Institute of Human Genetics, University of Utah, Salt Lake City 84112, USA.

O'Connell P

Breidenbach H H

Cawthon R

Stevens J

Xu G

Neil S

Robertson M

White R

Viskochil D

Article Info

Journal

Genomics

Abbr.

Genomics

ISSN

0888-7543

DOI

10.1016/0888-7543(95)80104-t

Published

1995-01-01

页码

9-18

Language

English

Country/Region

United States

NLM ID

8800135

基金资助

NINDS NIH HHS · K08 NS01492 · United States

NHGRI NIH HHS · P01 HG00470 · United States

NCI NIH HHS · R55CA57511-01 · United States

数据资源

GENBANK

U17656, U17657, U17658, U17659, U17660, U17661, U17662, U17664, U17665, U17666, U17667, U17668, U17669, U17670, U17671, U17672, U17673, U17674, U17675, U17676, U17677, U17678, U17679, U17680, U17681, U17682, U17683, U17684, U17685, U17686

External Links

PubMed source DOI: 10.1016/0888-7543(95)80104-t View journal details

Analysis Services

Genomic organization of the neurofibromatosis 1 gene (NF1).

Contact

WeChat Official Account