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Titolo:
Human homolog of the mouse imprinted gene Impact resides at the pericentric region of chromosome 18 within the critical region for bipolar affective disorder
Autore:
Kosaki, K; Suzuki, T; Kosaki, R; Yoshihashi, H; Itoh, M; Goto, Y; Matsuo, N;
Indirizzi:
Keio Univ, Sch Med, Dept Pediat, Div Med Genet,Shinjuku Ku, Tokyo 1608582,Japan Keio Univ Tokyo Japan 1608582 Med Genet,Shinjuku Ku, Tokyo 1608582,Japan Keio Univ, Sch Med, Pharmacia Upjohn Fund Growth & Dev Res, Shinjuku Ku, Tokyo 1608582, Japan Keio Univ Tokyo Japan 1608582 Dev Res, Shinjuku Ku, Tokyo 1608582, Japan Keio Univ, Sch Med, Ctr Hlth, Tokyo 1608582, Japan Keio Univ Tokyo Japan1608582 v, Sch Med, Ctr Hlth, Tokyo 1608582, Japan Natl Ctr Neurol & Psychiat, Natl Inst Neurosci, Dept Mental Retardat & Birth Defect Res, Tokyo 1870031, Japan Natl Ctr Neurol & Psychiat Tokyo Japan 1870031 Res, Tokyo 1870031, Japan
Titolo Testata:
MOLECULAR PSYCHIATRY
fascicolo: 1, volume: 6, anno: 2001,
pagine: 87 - 91
SICI:
1359-4184(200101)6:1<87:HHOTMI>2.0.ZU;2-X
Fonte:
ISI
Lingua:
ENG
Soggetto:
SIGNIFICANT LINKAGE; LOCUS; SUSCEPTIBILITY; TRANSMISSION; MARKERS; PEDIGREES; FAMILIES; ILLNESS; SERIES; H19;
Keywords:
bipolar disorder; genome imprinting; physical mapping (genetics);
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
38
Recensione:
Indirizzi per estratti:
Indirizzo: Kosaki, K Keio Univ, Sch Med, Dept Pediat, Div Med Genet,Shinjuku Ku, 35 Shinanomachi, Tokyo 1608582, Japan Keio Univ 35 Shinanomachi Tokyo Japan 1608582 yo 1608582, Japan
Citazione:
K. Kosaki et al., "Human homolog of the mouse imprinted gene Impact resides at the pericentric region of chromosome 18 within the critical region for bipolar affective disorder", MOL PSYCHI, 6(1), 2001, pp. 87-91

Abstract

Several mapping studies of families with multiple individuals who have bipolar affective disorder (BPAD) have demonstrated possible linkage of the trait to the pericentric region of chromosome 18 (18cen). Currently, the large size of the critical interval defined by these studies makes effective selection of candidate genes formidable. However, documentation of 18cen-linked families in which a parent-of-origin effect was observed in the transmission of the BPAD trait provides a clue to the nature of the putative gene; it may be imprinted. In the present study, we cloned IMPACT, the human homolog of the mouse imprinted gene Impact and mapped it to 18cen within the critical interval for BPAD. Human IMPACT encodes a protein with 320 amino acids and is expressed at high levels in the brain. Since only a small number of imprinted genes are estimated to be present in the entire genome, very few imprinted genes would be expected to be present in this particular chromosomal region. Hence, IMPACT represents a candidate gene for BPAD susceptibility. Alternatively, other as yet unknown imprinted gene(s) adjacent to IMPACT could contribute to the BPAD trait, since multiple imprinted genes mayoccasionally form clusters. Localization of human IMPACT at 18cen in this study defines a promising target region in which to search for putative BPAD genes.

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Documento generato il 23/01/20 alle ore 06:19:36