Chromosomal localization of seven PAX genes and cloning of a novel family member, PAX-9
- 1 April 1993
- journal article
- research article
- Published by Springer Science and Business Media LLC in Nature Genetics
- Vol. 3 (4), 292-298
- https://doi.org/10.1038/ng0493-292
Abstract
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.Keywords
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