Genomic structure of a human holocytochrome c-type synthetase gene in Xp22.3 and mutation analysis in patients with Rett syndrome.
The human holocytochrome c-type synthetase (HCCS) gene is located on Xp22.3 and is one of the genes identified in a 450-Kb region deleted in the neurodevelopmental disorder microphthalmia with linear skin defects. Several other developmental disorders with or without a neurological phenotype have been linked to Xp22.3. This region of the X chromosome was also found to be concordant in patients with Rett syndrome (RTT)in previously performed exclusion mapping. Based on its chromosomal location and its role in the mitochondrial respiratory chain, we analyzed HCCS as a candidate gene for RTT. The genomic structure of this gene, which occupies an 11-Kb region and consists of seven exons, was determined. All intron-exon boundaries were sequenced and primers were designed for polymerase chain reaction (PCR) amplification of each coding exon. PCR-amplified products from genomic DNA isolated from 20 RTT patients were screened for mutations using heteroduplex analysis. No mutations were detected. The genomic characterization of this gene will allow us to perform mutation analysis for other inherited disorders linked to this region.
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
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Van den Veyver
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Subramanian
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Zoghbi
D001483:Base Sequence; D004252:DNA Mutational Analysis; D018076:DNA, Complementary; D006801:Humans; D008190:Lyases / Q000235:genetics; D008969:Molecular Sequence Data; D015518:Rett Syndrome / Q000201:enzymology* / Q000235:genetics*; D014960:X Chromosome
D018076:DNA, Complementary; D008190:Lyases; C031581:cytochrome C synthetase