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Neurogenetics

The X-linked dystonia-parkinsonism syndrome (XDP) is a genetically homogeneous movement disorder. The locus, DYT3, which underlies XDP has been previously assigned to Xq13.1 (Müller et al., Genomics 23:114-117, 1994). Here we report on the further delineation of DYT3 within a small region of a 1.8 Mb YAC-contig in Xq13.1, by analysis of allelic association between DYT3 and several newly developed short tandem repeat polymorphic markers (STRPs). A high degree of allelic association was found between DYT3 and two STRPs (DXS71117 and DXS7119). This facilitated the assignment of the disease locus to an interval of approximately 300-500 kb within Xq13.l. This interval includes the marker loci IL2R , GJB1 and CCGl. Since none of these genes is a good candidate of DYT3, additional cDNAs, referred to as CD1 and CD2, have been isolated. CDl was mapped to a region in close proximity to IL2R and CD2 to an interval flanked by GJBl and CCGl. Transcripts of CD1 and CD2 were found at varying degrees in several human tissues including the brain. Thus their location and expression pattern make them candidates of the XDP gene. Sequence comparison of CD1 revealed some homology to the human forkhead gene family. CD2 turned out to be identical to the gene coding for p54nrb, which has homology to the human splicing factor PSF. Analysis of the genomic structure of the genes is underway and mutation analyses in XDP patients have been initiated.

Headings
X-linked dystonia-parkinsonism syndrome (XDP)

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