Genes with triplet repeats: candidate mediators of neuropsychiatric disorders. 1993

C A Ross, and M G McInnis, and R L Margolis, and S H Li
Dept of Psychiatry, Johns Hopkins University School of Medicine, Baltimore, MD 21205-2196.

Recently a new form of human mutation-expansion of trinucleotide repeats-has been found to cause the diseases of fragile X syndrome, spinal and bulbar muscular atrophy, myotonic dystrophy and, most recently, Huntington's disease. We review the emerging data on the genetics and neurobiology of these disorders. Three are characterized by unusual patterns of inheritance, in particular, genetic 'anticipation', in which the severity of the disorder increases and the age of onset decreases in successive generations of a pedigree. Several idiopathic neuropsychiatric disorders have features of inheritance consistent with anticipation. In bipolar affective disorder, there is evidence for both earlier age of onset and more severe illness in the second generation of a subset of unilineal pedigrees. There is also the suggestion of anticipation in some forms of schizophrenia, spinocerebellar atrophy and autism. Triplet repeats are present in additional known genes, both in coding regions and untranslated regions. Furthermore, many novel genes with triplet repeats are expressed in the human brain, and these are candidates to cause some forms of these neuropsychiatric disorders.

UI MeSH Term Description Entries
D009422 Nervous System Diseases Diseases of the central and peripheral nervous system. This includes disorders of the brain, spinal cord, cranial nerves, peripheral nerves, nerve roots, autonomic nervous system, neuromuscular junction, and muscle. Neurologic Disorders,Nervous System Disorders,Neurological Disorders,Disease, Nervous System,Diseases, Nervous System,Disorder, Nervous System,Disorder, Neurologic,Disorder, Neurological,Disorders, Nervous System,Disorders, Neurologic,Disorders, Neurological,Nervous System Disease,Nervous System Disorder,Neurologic Disorder,Neurological Disorder
D012091 Repetitive Sequences, Nucleic Acid Sequences of DNA or RNA that occur in multiple copies. There are several types: INTERSPERSED REPETITIVE SEQUENCES are copies of transposable elements (DNA TRANSPOSABLE ELEMENTS or RETROELEMENTS) dispersed throughout the genome. TERMINAL REPEAT SEQUENCES flank both ends of another sequence, for example, the long terminal repeats (LTRs) on RETROVIRUSES. Variations may be direct repeats, those occurring in the same direction, or inverted repeats, those opposite to each other in direction. TANDEM REPEAT SEQUENCES are copies which lie adjacent to each other, direct or inverted (INVERTED REPEAT SEQUENCES). DNA Repetitious Region,Direct Repeat,Genes, Selfish,Nucleic Acid Repetitive Sequences,Repetitive Region,Selfish DNA,Selfish Genes,DNA, Selfish,Repetitious Region, DNA,Repetitive Sequence,DNA Repetitious Regions,DNAs, Selfish,Direct Repeats,Gene, Selfish,Repeat, Direct,Repeats, Direct,Repetitious Regions, DNA,Repetitive Regions,Repetitive Sequences,Selfish DNAs,Selfish Gene
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D001523 Mental Disorders Psychiatric illness or diseases manifested by breakdowns in the adaptational process expressed primarily as abnormalities of thought, feeling, and behavior producing either distress or impairment of function. Mental Illness,Psychiatric Diseases,Psychiatric Disorders,Psychiatric Illness,Behavior Disorders,Diagnosis, Psychiatric,Mental Disorders, Severe,Psychiatric Diagnosis,Illness, Mental,Mental Disorder,Mental Disorder, Severe,Mental Illnesses,Psychiatric Disease,Psychiatric Disorder,Psychiatric Illnesses,Severe Mental Disorder,Severe Mental Disorders

Related Publications

C A Ross, and M G McInnis, and R L Margolis, and S H Li
February 1995, Annals of medicine,
C A Ross, and M G McInnis, and R L Margolis, and S H Li
March 2011, Trends in neurosciences,
C A Ross, and M G McInnis, and R L Margolis, and S H Li
August 2000, Indian journal of clinical biochemistry : IJCB,
C A Ross, and M G McInnis, and R L Margolis, and S H Li
June 2001, Tanpakushitsu kakusan koso. Protein, nucleic acid, enzyme,
C A Ross, and M G McInnis, and R L Margolis, and S H Li
January 1994, Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie,
C A Ross, and M G McInnis, and R L Margolis, and S H Li
March 2010, Journal of neurogenetics,
C A Ross, and M G McInnis, and R L Margolis, and S H Li
June 1996, Diabetologia,
C A Ross, and M G McInnis, and R L Margolis, and S H Li
June 1994, Nature genetics,
C A Ross, and M G McInnis, and R L Margolis, and S H Li
January 2001, Progress in nucleic acid research and molecular biology,
C A Ross, and M G McInnis, and R L Margolis, and S H Li
July 2014, The American journal of psychiatry,
Copied contents to your clipboard!