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.
| Original language | English |
|---|---|
| Pages (from-to) | 243-54 |
| Number of pages | 12 |
| Journal | Annals of Human Genetics |
| Volume | 56 |
| Issue number | Pt 3 |
| Publication status | Published - 1992 |
Keywords / Materials (for Non-textual outputs)
- 2',3'-Cyclic-Nucleotide Phosphodiesterases
- Amino Acid Sequence
- Animals
- Base Sequence
- Brain
- 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
- Restriction Mapping
- Rodentia