Structure and chromosomal localization of the human 2',3'-cyclic nucleotide 3'-phosphodiesterase gene

Ann Hum Genet. 1992 Jul;56(3):243-54. doi: 10.1111/j.1469-1809.1992.tb01149.x.

Abstract

Human brain cDNA clones for the myelin associated enzyme 2',3'-cyclic nucleotide 3'-phosphodiesterase (CNPase) have been isolated and sequenced. The only 5' untranslated region (UTR) sequence found was that of a human CNPII mRNA, with no direct evidence for a CNPI mRNA. Human CNPase cDNAs were used to isolate genomic clones containing the human CNPase gene which is 9 kb long. Four exons were identified, separated by three introns, and the sequence of each exon and intron/exon boundary has been established. The polymerase chain reaction (PCR) was used to detect the presence of the human CNPase gene in DNA from a panel of rodent/human somatic cell hybrids. By this means the human CNPase gene was mapped to chromosome 17. In situ hybridization of a human CNPase genomic clone to metaphase chromosomes further localized this gene to chromosomal band 17q21.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • 2',3'-Cyclic-Nucleotide Phosphodiesterases / genetics*
  • Amino Acid Sequence
  • Animals
  • Base Sequence
  • Brain / enzymology
  • Chromosome Banding
  • Chromosomes, Human, Pair 17*
  • DNA
  • Humans
  • Hybrid Cells
  • In Situ Hybridization, Fluorescence
  • Molecular Sequence Data
  • Polymerase Chain Reaction
  • Polymorphism, Restriction Fragment Length
  • RNA, Messenger / genetics
  • Restriction Mapping
  • Rodentia

Substances

  • RNA, Messenger
  • DNA
  • 2',3'-Cyclic-Nucleotide Phosphodiesterases