The human genome has only one functional hsp47 gene (CBP2) and a pseudogene (pshsp47)

Gene. 1999 Feb 18;227(2):241-8. doi: 10.1016/s0378-1119(98)00592-7.

Abstract

Among all the species investigated to date, only in humans is hsp47 reported to exist as two separate genes. Here we examined whether hsp47 forms a gene family, and if so, how many genes constitute the family. Cloning and sequencing of human hsp47 cDNA revealed that only one gene, identical to CBP2, was transcribed. No transcript corresponding to colligin, which was reported to be a human homologue of hsp47, was found. Genomic southern hybridization using the exon III fragment of mouse hsp47 as a probe, however, showed two bands for several restriction enzyme digests. We cloned and sequenced the gene corresponding to the extra band and found that a pseudogene (pshsp47) existed in the human genome. We have mapped this pseudogene to chromosome 9p12-p13 by fluorescent in situ hybridization (FISH) using a 3.5kb genomic fragment containing the entire pshsp47 sequence as a probe. These results suggested that functional hsp47 exists as CBP2, not as colligin, and a highly conserved pseudogene is present in the human genome.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • Carrier Proteins / genetics*
  • Chromosome Mapping
  • Chromosomes, Human, Pair 19 / genetics
  • Cloning, Molecular
  • Gene Dosage*
  • Genome, Human*
  • Glycoproteins
  • HSP47 Heat-Shock Proteins
  • Heat-Shock Proteins / genetics*
  • Humans
  • In Situ Hybridization, Fluorescence
  • Molecular Sequence Data
  • Nuclear Proteins*
  • Pseudogenes / genetics*
  • RNA, Messenger / metabolism
  • Sequence Alignment
  • Sequence Analysis, DNA

Substances

  • Carrier Proteins
  • Glycoproteins
  • HSP47 Heat-Shock Proteins
  • Heat-Shock Proteins
  • NOL6 protein, human
  • Nuclear Proteins
  • RNA, Messenger
  • SERPINH1 protein, human
  • SERPINH1P1 protein, human
  • colligin

Associated data

  • GENBANK/AB010273