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Titolo:
Novel compound heterozygous mutations for lipoprotein lipase deficiency: aG-to-T transversion at the first position of exon 5 causing G154V missensemutation and a 5 ' splice site mutation of intron 8
Autore:
Ikeda, Y; Takagi, A; Nakata, Y; Sera, Y; Hyoudou, S; Hamamoto, K; Nishi, Y; Yamamoto, A;
Indirizzi:
Natl Cardiovasc Ctr, Res Inst, Dept Etiol & Pathophysiol, Suita, Osaka 5658565, Japan Natl Cardiovasc Ctr Suita Osaka Japan 5658565 Suita, Osaka 5658565, Japan Natl Cardiovasc Ctr, Res Inst, Dept Pharmacol, Suita, Osaka 5658565, JapanNatl Cardiovasc Ctr Suita Osaka Japan 5658565 Suita, Osaka 5658565, Japan Hiroshima Red Cross Hosp, Dept Pediat, Hiroshima 7308619, Japan Hiroshima Red Cross Hosp Hiroshima Japan 7308619 iroshima 7308619, Japan Hyogo Coll Med, Dept Internal Med 4, Nishinomiya, Hyogo 6638131, Japan Hyogo Coll Med Nishinomiya Hyogo Japan 6638131 miya, Hyogo 6638131, Japan
Titolo Testata:
JOURNAL OF LIPID RESEARCH
fascicolo: 7, volume: 42, anno: 2001,
pagine: 1072 - 1081
SICI:
0022-2275(200107)42:7<1072:NCHMFL>2.0.ZU;2-U
Fonte:
ISI
Lingua:
ENG
Soggetto:
HEPATIC TRIGLYCERIDE LIPASE; HUMAN POSTHEPARIN PLASMA; DNA-SEQUENCE; PANCREATIC LIPASE; MOLECULAR-MODEL; HEPARIN-BINDING; GENE; RNA; IDENTIFICATION; PURIFICATION;
Keywords:
LPL gene mutation; hypertriglyceridemia; first nucleotide; first base; acceptor splice site; donor splice site; cryptic splice site;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
34
Recensione:
Indirizzi per estratti:
Indirizzo: Ikeda, Y Natl Cardiovasc Ctr, Res Inst, Dept Etiol & Pathophysiol, 5-7-1 Fujishirodai, Suita, Osaka 5658565, Japan Natl Cardiovasc Ctr 5-7-1 Fujishirodai Suita Osaka Japan 5658565
Citazione:
Y. Ikeda et al., "Novel compound heterozygous mutations for lipoprotein lipase deficiency: aG-to-T transversion at the first position of exon 5 causing G154V missensemutation and a 5 ' splice site mutation of intron 8", J LIPID RES, 42(7), 2001, pp. 1072-1081

Abstract

We systematically investigated the molecular defects causing a primary LPLdeficiency in a Japanese male infant (patient DI) with fasting hyperchylomicronemia (type I hyperlipoproteinemia) and in his parents, Patient DI had neither LPL activity nor immunoreactive LPL mass in the pre- and post-heparin plasma, The patient was a compound heterozygote for novel mutations consisting of a G-to-T transversion at the first nucleotide of exon 5 [+1 position of 3 ' acceptor splice site (3 ' -ass) of intron 4] and a T-to-C transition in the invariant GT at position +2 of the 5 ' donor splice site (5 ' -dss) of intron 8 (Int8/5 ' -dss/t(+2)c). The G-to-T transversion, although affecting the 11 nucleotide of the 3 ' -consensus acceptor splice site, resulted in a substitution of Gly(154) to Val (G154V; G (G) under bar (716)C(-->)G (T) under barC). The mutant G154V LPL expressed in COS-1 cells was catalytically inactive and hardly released from the cells by heparin, The 1nt8/5 ' -dss/t(+2)c mutation inactivated the authentic 5 ' splice site of intron 8 and led to the utilization of a cryptic 5 ' -dss in exon 8 as an alternative splice site 133 basepairs upstream from the authentic splice site, thereby causing joining of a part of exon 8 to exon 9 with skipping of a 134-bp fragment of exon 8 and intron 8.jlr These additional mutations in the consensus sequences of the 3 ' and 5 ' splice sites might be useful for better understanding the factors that are involved in splice site selection in vivo.

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Documento generato il 25/01/20 alle ore 19:46:30