Chromosomal localization of seven PAX genes and cloning of a novel family member, PAX-9

Nat Genet. 1993 Apr;3(4):292-8. doi: 10.1038/ng0493-292.


In the human paired box-containing (PAX) gene family, only two members, PAX-3 and PAX-6, which are associated with Waardenburg's syndrome and aniridia, respectively have been mapped to human chromosomes. We have now isolated cosmids for six additional human PAX genes (PAX-1,-2,-5,-7,-8,-9) and a polymerase chain reaction fragment for PAX-4. PAX-9 is a novel family member which is closely related in its paired domain to PAX-1. The chromosomal location of all cloned PAX genes was determined by analysis of somatic cell hybrids and (except PAX-4) by fluorescence in situ hybridization to metaphase chromosomes. PAX-1 and PAX-7 map to chromosomal regions containing previously assigned disease loci.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence
  • Animals
  • Aniridia / genetics*
  • Base Sequence
  • Chromosome Mapping
  • Chromosomes, Human, Pair 14*
  • Cloning, Molecular
  • Cosmids
  • DNA Primers
  • DNA-Binding Proteins / biosynthesis
  • DNA-Binding Proteins / genetics*
  • Humans
  • Hybrid Cells
  • In Situ Hybridization, Fluorescence
  • Karyotyping
  • Mice
  • Molecular Sequence Data
  • PAX9 Transcription Factor
  • Polymerase Chain Reaction
  • Sequence Homology, Amino Acid
  • Transcription Factors / biosynthesis
  • Transcription Factors / genetics*
  • Waardenburg Syndrome / genetics*


  • DNA Primers
  • DNA-Binding Proteins
  • PAX9 Transcription Factor
  • PAX9 protein, human
  • Transcription Factors

Associated data

  • GENBANK/L09746
  • GENBANK/L09747
  • GENBANK/L09748