Identification of a Novel Gene on Chromosome 7q31 That Is Interrupted by a Translocation Breakpoint in an Autistic Individual
Copyright policy )Identification of a Novel Gene on Chromosome 7q31 That Is Interrupted by a Translocation Breakpoint in an Autistic Individual
The results of genetic linkage studies for autism have suggested that a susceptibility locus for the disease is located on the long arm of chromosome 7 (7q). An autistic individual carrying a translocation, t(7;13)(q31.3;q21), with the chromosome 7 breakpoint located in the region of 7q implicated by genetic studies was identified. A novel gene known as "RAY1" (or "FAM4A1") was found to be directly interrupted by the translocation breakpoint. The gene, which was found to be encoded by 16 exons with evidence of alternative splicing, spanned > or =220 kb of DNA at 7q31.3. Mutation screening of the entire coding region in a set of 27 unrelated autistic individuals failed to identify phenotype-specific variants, suggesting that coding region mutations are unlikely to be involved in the etiology of autism. Apparent homologues of RAY1 have also been identified in mouse, rat, pig, chicken, fruit fly, and nematode. The human and mouse genes share similar splicing patterns, and their predicted protein products are 98% identical.
- University of Cambridge United Kingdom
- University College London United Kingdom
- University of Toronto
- Child Development Center Qatar
- Department of Psychiatry University of Cambridge United Kingdom
Male, Genetic Linkage, Gene Expression Profiling, DNA Mutational Analysis, Molecular Sequence Data, Chromosome Mapping, Chromosome Breakage, Exons, Alternative Splicing, Phenotype, Mutation, Genetics, Animals, Humans, Genetics(clinical), Female, Genetic Predisposition to Disease, Amino Acid Sequence, Autistic Disorder, Cloning, Molecular, Child, Chromosomes, Human, Pair 7
Male, Genetic Linkage, Gene Expression Profiling, DNA Mutational Analysis, Molecular Sequence Data, Chromosome Mapping, Chromosome Breakage, Exons, Alternative Splicing, Phenotype, Mutation, Genetics, Animals, Humans, Genetics(clinical), Female, Genetic Predisposition to Disease, Amino Acid Sequence, Autistic Disorder, Cloning, Molecular, Child, Chromosomes, Human, Pair 7
citations This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).114 popularity This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.Top 10% influence This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).Top 10% impulse This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.Top 1%
Citations provided by BIP!Popularity provided by BIP!