title: Refinement of the genomic structure of STX1A and mutation analysis in nondeletion Williams syndrome patients.
abstract: Williams syndrome (WS) is a contiguous gene deletion disorder in which the commonly deleted region contains at least 17 genes. One of these genes, Syntaxin 1A (STX1A), codes for a protein that is highly expressed in the nervous system and is essential for the docking of synaptic vesicles with the presynaptic plasma membrane. In this study, we refine the complete genomic structure of the human STX1A gene by direct sequencing and primer walking of bacterial artificial chromosome (BAC) clones and show that STX1A contains at least 10 exons and 9 introns. The length of exons range from 27 bp to 138 bp and all splice sites conform to the GT-AG rule. Investigation of the STX1A gene sequence in five WS patients without detectable deletions did not identify any point mutations. Although the regulatory elements that control STX1A transcription were not examined, these results do not support a role for STX1A in the WS phenotype.
authors.affiliation: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.
authors.forename: Yuan-Qing
authors.initials: YQ
authors.lastname: Wu
authors.forename: Bassem A
authors.initials: BA
authors.lastname: Bejjani
authors.forename: Lap-Chee
authors.initials: LC
authors.lastname: Tsui
authors.forename: Ariane
authors.initials: A
authors.lastname: Mandel
authors.forename: Lucy R
authors.initials: LR
authors.lastname: Osborne
authors.forename: Lisa G
authors.initials: LG
authors.lastname: Shaffer
mesh_terms: D000293:Adolescent; D000954:Antigens, Surface / Q000235:genetics*; D001483:Base Sequence; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D017353:Gene Deletion; D005796:Genes / Q000235:genetics; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000235:genetics*; D017354:Point Mutation; D020641:Polymorphism, Single Nucleotide; D050827:Syntaxin 1; D018980:Williams Syndrome / Q000235:genetics*
chemical_list: D000954:Antigens, Surface; D009419:Nerve Tissue Proteins; C494212:STX1A protein, human; D050827:Syntaxin 1; D004247:DNA