Catalogo Articoli (Spogli Riviste)

OPAC HELP

Titolo:
Mannose 6-phosphate/insulin-like growth factor 2 receptor (M6P/IGF2R) variants in American and Japanese populations
Autore:
Killian, JK; Oka, Y; Jang, HS; Fu, XL; Waterland, RA; Sohda, T; Sakaguchi, S; Jirtle, RL;
Indirizzi:
Duke Univ, Med Ctr, Dept Radiat Oncol, Durham, NC 27710 USA Duke Univ Durham NC USA 27710 tr, Dept Radiat Oncol, Durham, NC 27710 USA Duke Univ, Med Ctr, Dept Pathol, Durham, NC 27710 USA Duke Univ Durham NCUSA 27710 Med Ctr, Dept Pathol, Durham, NC 27710 USA Fukuoka Univ, Chikushi Hosp, Dept Gastroenterol, Fukuoka 81401, Japan Fukuoka Univ Fukuoka Japan 81401 ept Gastroenterol, Fukuoka 81401, Japan Uijongbo St Marys Hosp, Dept Radiat Oncol, Uijongbo, South Korea Uijongbo St Marys Hosp Uijongbo South Korea ncol, Uijongbo, South Korea Shanghai Med Univ, Canc Hosp, Inst Canc, Shanghai 200032, Peoples R China Shanghai Med Univ Shanghai Peoples R China 200032 00032, Peoples R China Fukuoka Univ, Sch Med, Dept Internal Med 3, Fukuoka 81401, Japan Fukuoka Univ Fukuoka Japan 81401 pt Internal Med 3, Fukuoka 81401, Japan
Titolo Testata:
HUMAN MUTATION
fascicolo: 1, volume: 18, anno: 2001,
pagine: 25 - 31
SICI:
1059-7794(2001)18:1<25:M6GF2R>2.0.ZU;2-G
Fonte:
ISI
Lingua:
ENG
Soggetto:
FACTOR-II RECEPTOR; FACTOR TYPE-2 RECEPTOR; HUMAN IGF2R GENE; MATERNAL-SPECIFIC METHYLATION; 6-PHOSPHATE RECEPTOR; PERINATAL LETHALITY; MOUSE; POLYMORPHISM; EXPRESSION; TUMORS;
Keywords:
cancer; imprinting, genomic; fetal growth; human genetics; LOH; M6P; IGF2R; SNP; American; Japanese; population frequency;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
41
Recensione:
Indirizzi per estratti:
Indirizzo: Jirtle, RL Duke Univ, Med Ctr, Dept Radiat Oncol, Durham, NC 27710 USA Duke Univ Durham NC USA 27710 diat Oncol, Durham, NC 27710 USA
Citazione:
J.K. Killian et al., "Mannose 6-phosphate/insulin-like growth factor 2 receptor (M6P/IGF2R) variants in American and Japanese populations", HUM MUTAT, 18(1), 2001, pp. 25-31

Abstract

M6P/IGF2R encodes a multifunctional protein involved in lysosomal enzyme trafficking, fetal organogenesis, tumor suppression, and cytotoxic T cell-induced apoptosis. M6P/IGF2R is imprinted and expressed only from the maternally inherited allele in marsupials and rodents. Tn contrast, humans were initially reported to differ from the imprinted mammalian orders by not having an imprinted M6P/IGF2R; however, some studies now suggest M6P/IGF2R imprinting may be a human polymorphic trait, Mutational and functional evidence are consistent with M6P/IGF2R also being a tumor suppressor in human colon,liver, lung, breast, and ovarian cancers. M6P/IGF2R expression is also pathologically downregulated following mammalian in vitro embryo culture, resulting in fetal overgrowth and "large offspring syndrome. " Therefore, the M6P/IGF2R imprint status in humans is an unresolved question that critically impacts upon biological issues ranging from human cancer predisposition to evolution, Attempts to further characterize the imprint status of human M6P/IGF2R and loss of heterozygosity at this locus in cancer have been hindered by a lack of readily usable polymorphisms. To facilitate these genetic analyses, rye have screened American and Japanese populations for M6P/IGF2R single nucleotide polymorphisms (SNPs). We have identified nine novel SNPs intragenic to human M6P/IGF2R, and have described experimental conditions for their optimal use, Three identified amino-acid variants in the M6P/IGF2R ligand-binding domains may be under selection in humans. Hum Mutat 18:25-31, 2001, (C) 2001 Wiley-Liss, Inc.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 26/11/20 alle ore 14:12:04