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Titolo:
Novel nonsense mutation in the Na+/HCO3- cotransporter gene (SLC4A4) in a patient with permanent isolated proximal renal tubular acidosis and bilateral glaucoma
Autore:
Igarashi, T; Inatomi, J; Sekine, T; Seki, G; Shimadzu, M; Tozawa, F; Takeshima, Y; Takumi, T; Takahashi, T; Yoshikawa, N; Nakamura, H; Endou, H;
Indirizzi:
Univ Tokyo, Fac Med, Dept Pediat, Bunkyo Ku, Tokyo 1138655, Japan Univ Tokyo Tokyo Japan 1138655 t Pediat, Bunkyo Ku, Tokyo 1138655, Japan Univ Tokyo, Fac Med, Dept Nephrol & Endocrinol, Bunkyo Ku, Tokyo 1138655, Japan Univ Tokyo Tokyo Japan 1138655 docrinol, Bunkyo Ku, Tokyo 1138655, Japan Kyourin Univ, Sch Med, Dept Pharmacol & Toxicol, Tokyo, Japan Kyourin Univ Tokyo Japan ch Med, Dept Pharmacol & Toxicol, Tokyo, Japan Mitsubishi Yuka Bioclin Labs Inc, Dept Genet, Tokyo, Japan Mitsubishi YukaBioclin Labs Inc Tokyo Japan , Dept Genet, Tokyo, Japan Kobe Univ, Fac Med, Dept Pediat, Kobe, Hyogo 657, Japan Kobe Univ Kobe Hyogo Japan 657 c Med, Dept Pediat, Kobe, Hyogo 657, Japan
Titolo Testata:
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
fascicolo: 4, volume: 12, anno: 2001,
pagine: 713 - 718
SICI:
1046-6673(200104)12:4<713:NNMITN>2.0.ZU;2-M
Fonte:
ISI
Lingua:
ENG
Soggetto:
CORNEAL ENDOTHELIAL-CELLS; FUNCTIONAL EXPRESSION; NA+HCO3 COTRANSPORTER; MOLECULAR ASPECTS; DISEASE PROCESSES; BICARBONATE; SODIUM; TRANSPORT; CLONING; HEALTH;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
22
Recensione:
Indirizzi per estratti:
Indirizzo: Igarashi, T Univ Tokyo, Fac Med, Dept Pediat, Bunkyo Ku, 7-3-1 Hongo, Tokyo 1138655, Japan Univ Tokyo 7-3-1 Hongo Tokyo Japan 1138655 kyo 1138655, Japan
Citazione:
T. Igarashi et al., "Novel nonsense mutation in the Na+/HCO3- cotransporter gene (SLC4A4) in a patient with permanent isolated proximal renal tubular acidosis and bilateral glaucoma", J AM S NEPH, 12(4), 2001, pp. 713-718

Abstract

Permanent isolated proximal renal tubular acidosis (pRTA) with ocular abnormalities is a systemic disease involving short stature, isolated pRTA, mental retardation, and ocular abnormalities. Kidney Na+/HCO3- cotransporter (kNBC1) cDNA from peripheral lymphocytes from a patient with permanent isolated pRTA and bilateral glaucoma was screened, and a novel homozygous mutation, namely a cytosine-to-thymine transition at nucleotide 234, which resulted in the formation of a stop codon at codon 29, was identified. This homozygous mutation, Q29X, was identified in the unique 5'-end of the kNBC1 gene(SLC4A4) of the patient. Cosegregation of this Q29X mutation with the disease and heterozygosity in the parents of the affected patient were observed. The absence of this mutation in 156 alleles from 78 Japanese individuals indicates that this mutation is directly related to the disease and is not a common DNA sequence polymorphism. This nonsense mutation predicts a truncated kNBC1 protein that lacks the 1007 amino acids of the carboxyl-terminus, and the effect on kNBC1 cotransport activity is likely to be a loss of function. In contrast, the pancreatic Na+/NCO3- cotransporter of the patient is not likely to be affected by this nonsense mutation. These results have implications for understanding the role of kNBC1 in the pathophysiologic processes of pRTA associated with ocular abnormalities and mental retardation.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 06/07/20 alle ore 05:56:50