Chromosomal localization of seven PAX genes and cloning of a novel family member, PAX-9.
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.
Stapleton
P
P
Research Institute of Molecular Pathology, Vienna, Austria.
Weith
A
A
Urbánek
P
P
Kozmik
Z
Z
Busslinger
M
M
D000595:Amino Acid Sequence; D000818:Animals; D015783:Aniridia / Q000235:genetics*; D001483:Base Sequence; D002874:Chromosome Mapping; D002883:Chromosomes, Human, Pair 14; D003001:Cloning, Molecular; D003360:Cosmids; D017931:DNA Primers; D004268:DNA-Binding Proteins / Q000096:biosynthesis / Q000235:genetics*; D006801:Humans; D006822:Hybrid Cells; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D051379:Mice; D008969:Molecular Sequence Data; D051764:PAX9 Transcription Factor; D016133:Polymerase Chain Reaction; D017386:Sequence Homology, Amino Acid; D014157:Transcription Factors / Q000096:biosynthesis / Q000235:genetics*; D014849:Waardenburg Syndrome / Q000235:genetics*
D017931:DNA Primers; D004268:DNA-Binding Proteins; D051764:PAX9 Transcription Factor; C497323:PAX9 protein, human; D014157:Transcription Factors