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Titolo:
A conserved imprinting control region at the HYMAI/ZAC domain is implicated in transient neonatal diabetes mellitus
Autore:
Arima, T; Drewell, RA; Arney, KL; Inoue, J; Makita, Y; Hata, A; Oshimura, M; Wake, N; Surani, MA;
Indirizzi:
Univ Cambridge, Wellcome Inst Canc & Dev Biol, CRC, Cambridge CB2 1QR, England Univ Cambridge Cambridge England CB2 1QR CRC, Cambridge CB2 1QR, England Univ Cambridge, Physiol Lab, Cambridge CB2 1QR, England Univ Cambridge Cambridge England CB2 1QR Lab, Cambridge CB2 1QR, England Tottori Univ, Fac Med, Sch Life Sci, Dept Mol & Cell Genet, Yonago, Tottori 6838503, Japan Tottori Univ Yonago Tottori Japan 6838503 Yonago, Tottori 6838503, Japan Asahikawa Med Coll, Dept Publ Hlth, Asahikawa, Hokkaido 0788510, Japan Asahikawa Med Coll Asahikawa Hokkaido Japan 0788510 kkaido 0788510, Japan Kyushu Univ, Med Inst Bioregulat, Dept Reprod Physiol & Endocrinol, Beppu,Oita 8740838, Japan Kyushu Univ Beppu Oita Japan 8740838 ndocrinol, Beppu,Oita 8740838, Japan
Titolo Testata:
HUMAN MOLECULAR GENETICS
fascicolo: 14, volume: 10, anno: 2001,
pagine: 1475 - 1483
SICI:
0964-6906(20010701)10:14<1475:ACICRA>2.0.ZU;2-9
Fonte:
ISI
Lingua:
ENG
Soggetto:
ZINC-FINGER PROTEIN; DNA METHYLATION; GENE; ZAC1; IDENTIFICATION; SUSCEPTIBILITY; PACAP; LOST;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
26
Recensione:
Indirizzi per estratti:
Indirizzo: Surani, MA Univ Cambridge, Wellcome Inst Canc & Dev Biol, CRC, Tennis Court Rd, Cambridge CB2 1QR, England Univ Cambridge Tennis Court Rd Cambridge England CB2 1QR gland
Citazione:
T. Arima et al., "A conserved imprinting control region at the HYMAI/ZAC domain is implicated in transient neonatal diabetes mellitus", HUM MOL GEN, 10(14), 2001, pp. 1475-1483

Abstract

Transient neonatal diabetes mellitus (TNDM) is associated with intra-uterine growth retardation, dehydration and a lack of insulin. Some TNDM patients exhibit paternal uniparental disomy (UPD) of chromosome 6q24, where at least two imprinted genes, HYMAI and ZAC, have so far been characterized. Here we show that the differentially methylated CpG island that partially overlaps mZac1 and mHymai at the syntenic mouse locus is a likely imprinting control region (ICR) for the similar to 120-200 kb domain. The region is unmethylated in sperm but probably methylated in oocytes, a difference that persists between parental alleles throughout pre- and post-implantation development. We also show that within this ICR, there is a region that exhibits ahigh degree of homology between mouse and human. Using a reporter expression assay, we demonstrate that this conserved region acts as a strong transcriptional repressor when methylated. Finally, we provide in vivo evidence that in the majority of TNDM patients with a normal karyotype, there is a loss of methylation within the highly homologous region. We propose that thisICR regulates expression of imprinted genes within the domain; epigenetic or genetic mutations of this region probably result in TNDM, possibly by affecting expression of ZAC in the pancreas and/or the pituitary.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 17/01/21 alle ore 18:12:39