title: The gene for the peroxisomal targeting signal import receptor (PXR1) is located on human chromosome 12p13, flanked by TPI1 and D12S1089.
abstract: Mutations in the PXR1 gene can cause a generalized peroxisome biogenesis disorder (complementation group 2). Fluorescence in situ hybridization with the PXR1 cDNA and two cosmids containing the PXR1 gene was used for the cytogenetic assignment of the gene to chromosome 12p13. Analysis of a radiation hybrid panel for chromosome 12 with a PXR1 gene-based sequence-tagged site (STS) mapped the PXR1 gene between TPI1 and D12S1089. The STS also detects an unusual, highly polymorphic, short tandem repeat (heterozygosity, 0.82). This repeat shows one set of short alleles containing a pentanucleotide repeat and one set of long alleles containing a complex array of different pentanucleotides.
authors.affiliation: Human Genome Laboratory, Flanders Interuniversity Institute for Biotechnology, University of Leuven, Belgium. peter.marynen@med.kuleuven.ac.be
authors.forename: P
authors.initials: P
authors.lastname: Marynen
authors.forename: M
authors.initials: M
authors.lastname: Fransen
authors.forename: P
authors.initials: P
authors.lastname: Raeymaekers
authors.forename: G P
authors.initials: GP
authors.lastname: Mannaerts
authors.forename: P P
authors.initials: PP
authors.lastname: Van Veldhoven
mesh_terms: D000483:Alleles; D001483:Base Sequence; D002874:Chromosome Mapping; D002881:Chromosomes, Human, Pair 12; D017931:DNA Primers; D006801:Humans; D006822:Hybrid Cells / Q000528:radiation effects; D017404:In Situ Hybridization, Fluorescence; D008969:Molecular Sequence Data; D000074435:Peroxisome-Targeting Signal 1 Receptor; D018160:Receptors, Cytoplasmic and Nuclear / Q000235:genetics*
chemical_list: D017931:DNA Primers; C000614264:PEX5 protein, human; D000074435:Peroxisome-Targeting Signal 1 Receptor; D018160:Receptors, Cytoplasmic and Nuclear