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.
Publication types
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Comparative Study
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Research Support, Non-U.S. Gov't
MeSH terms
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Amino Acid Sequence
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Animals
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Aniridia / genetics*
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Base Sequence
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Chromosome Mapping
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Chromosomes, Human, Pair 14*
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Cloning, Molecular
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Cosmids
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DNA Primers
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DNA-Binding Proteins / biosynthesis
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DNA-Binding Proteins / genetics*
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Humans
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Hybrid Cells
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In Situ Hybridization, Fluorescence
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Karyotyping
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Mice
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Molecular Sequence Data
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PAX9 Transcription Factor
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Polymerase Chain Reaction
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Sequence Homology, Amino Acid
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Transcription Factors / biosynthesis
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Transcription Factors / genetics*
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Waardenburg Syndrome / genetics*
Substances
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DNA Primers
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DNA-Binding Proteins
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PAX9 Transcription Factor
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PAX9 protein, human
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Transcription Factors
Associated data
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GENBANK/L09746
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GENBANK/L09747
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GENBANK/L09748