Abstract
The human chromosomal band 17p11.2 is a genetically unstable interval. It has been shown to be deleted in patients suffering from Smith-Magenis syndrome. Previous efforts of physical and transcriptional mapping in 17p11.2 and subsequent genomic sequencing of the candidate interval allowed the identification of new genes that might be responsible for the Smith-Magenis syndrome. In this report, one of these genes named RAI1, the human homologue of the mouse Rai1 gene, has been investigated for its contribution to the syndrome. Expression analysis on different human adult and fetal tissues has shown the existence of at least three splice variants. Moreover, the most interesting feature of the gene is the presence of a polymorphic CAG repeat coding for a polyglutamine stretch in the amino terminal domain of the protein.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Abnormalities, Multiple / genetics*
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Abnormalities, Multiple / pathology
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Amino Acid Sequence
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Blotting, Northern
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Cell Line
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Chromosome Deletion
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Chromosomes, Human, Pair 17 / genetics
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DNA / chemistry
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DNA / genetics
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DNA, Complementary / chemistry
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DNA, Complementary / genetics
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Female
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Gene Deletion*
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Gene Expression
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Humans
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Intellectual Disability / pathology
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Molecular Sequence Data
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Peptides / genetics*
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Proteins / genetics*
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Psychomotor Disorders / pathology
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RNA / genetics
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RNA / metabolism
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Sequence Analysis, DNA
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Sequence Homology, Amino Acid
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Syndrome
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Tissue Distribution
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Trans-Activators
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Transcription Factors
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Trinucleotide Repeats / genetics
Substances
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DNA, Complementary
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Peptides
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Proteins
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RAI1 protein, human
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Trans-Activators
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Transcription Factors
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polyglutamine
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RNA
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DNA
Associated data
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GENBANK/AJ271790
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GENBANK/AJ271791