The human beta-defensin-1 and alpha-defensins are encoded by adjacent genes: two peptide families with differing disulfide topology share a common ancestry

Genomics. 1997 Aug 1;43(3):316-20. doi: 10.1006/geno.1997.4801.


We cloned a novel human beta-defensin gene and determined its full-length cDNA sequence. The entire gene spanned more than 7 kb and included a large 6962-bp intron. The 362-bp cDNA encoded a prepropeptide that corresponded precisely to the recently identified human beta-defensin HBD-1, an antimicrobial peptide implicated in the resistance of epithelial surfaces to microbial colonization. By two-color fluorescence in situ hybridization on both metaphase chromosome and released chromatin fiber, HBD-1 gene (DEFB1 in HUGO/GDB nomenclature) mapped to chromosomal region 8p23.1-p23.2 in close proximity (within 100-150 kb) to the gene for the human neutrophil alpha-defensin HNP-1 (DEFA1). Thus, despite a complete lack of DNA sequence similarity and despite differences in their disulfide-pairing pattern, the alpha- and beta-families appear to have evolved from a common premammalian defensin gene.

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Algorithms
  • Amino Acid Sequence
  • Anti-Infective Agents / metabolism*
  • Base Sequence
  • Blood Proteins / genetics*
  • Chromosome Mapping
  • Chromosomes, Human, Pair 8 / genetics
  • DNA, Complementary / analysis
  • DNA, Complementary / chemistry
  • DNA, Complementary / genetics
  • Databases, Factual
  • Defensins
  • Disulfides / chemistry
  • Evolution, Molecular
  • Genes / genetics*
  • Humans
  • In Situ Hybridization, Fluorescence
  • Molecular Sequence Data
  • Multigene Family*
  • Peptides / chemistry
  • Peptides / genetics
  • Protein Structure, Secondary
  • Sequence Alignment / methods
  • Sequence Homology, Amino Acid
  • alpha-Defensins*
  • beta-Defensins*


  • Anti-Infective Agents
  • Blood Proteins
  • DEFB1 protein, human
  • DNA, Complementary
  • Defensins
  • Disulfides
  • Peptides
  • alpha-Defensins
  • beta-Defensins
  • human neutrophil peptide 1

Associated data

  • GENBANK/U50930
  • GENBANK/U50931
  • GENBANK/X92744