15q11-13 GABAA receptor genes are normally biallelically expressed in brain yet are subject to epigenetic dysregulation in autism-spectrum disorders

• Published in: Human molecular genetics Vol. 16; no. 6; pp. 691 - 703
• Main Authors: Hogart, Amber, Nagarajan, Raman P., Patzel, Katherine A., Yasui, Dag H., LaSalle, Janine M.
• Format: Journal Article
• Language: English
• Published: Oxford Oxford University Press 15.03.2007; Oxford Publishing Limited (England)
• Subjects: Alleles; Animals; Biological and medical sciences; Cell Line, Tumor; Cell receptors; Cell structures and functions; Cerebral Cortex - metabolism; Child; Child clinical studies; Child Development Disorders, Pervasive - genetics; Chromosome Deletion; Chromosomes, Human, Pair 15; CpG Islands; Developmental disorders; DNA Methylation; Epigenesis, Genetic; Fathers; Fundamental and applied biological sciences. Psychology; Genetics of eukaryotes. Biological and molecular evolution; Genomic Imprinting; Humans; Infantile autism; Introns; Medical sciences; Methyl-CpG-Binding Protein 2 - metabolism; Mice; Miscellaneous; Molecular and cellular biology; Polymerase Chain Reaction; Prader-Willi Syndrome - genetics; Psychology. Psychoanalysis. Psychiatry; Psychopathology. Psychiatry; Receptors, GABA-A - genetics; Autism; Nervous system diseases; Gene; Central nervous system; Epigenetics; Genetics; Developmental disorder; Gene expression; Neurological disorder; Encephalon; Biological receptor; Spectrum

Human chromosome 15q11-13 is a complex locus containing imprinted genes as well as a cluster of three GABAA receptor subunit (GABR) genes—GABRB3, GABRA5 and GABRG3. Deletion or duplication of 15q11-13 GABR genes occurs in multiple human neurodevelopmental disorders including Prader-Willi syndrome (P...