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Titolo:
Human acid ceramidase gene: Novel mutations in Farber disease
Autore:
Zhang, ZJ; Mandal, AK; Mital, A; Popescu, N; Zimonjic, D; Moser, A; Moser, H; Mukherjee, AB;
Indirizzi:
NICHD, Sect Dev Genet, Heritable Disorders Branch, NIH, Bethesda, MD 20892USA NICHD Bethesda MD USA 20892 Disorders Branch, NIH, Bethesda, MD 20892USA NCI, Lab Mol Cytogenet, NIH, Bethesda, MD 20892 USA NCI Bethesda MD USA 20892 Lab Mol Cytogenet, NIH, Bethesda, MD 20892 USA Johns Hopkins Univ, Sch Med, Kennedy Krieger Inst, Baltimore, MD 21205 USAJohns Hopkins Univ Baltimore MD USA 21205 r Inst, Baltimore, MD 21205 USA Johns Hopkins Univ, Sch Med, Dept Neurol, Baltimore, MD 21205 USA Johns Hopkins Univ Baltimore MD USA 21205 Neurol, Baltimore, MD 21205 USA Johns Hopkins Univ, Sch Med, Dept Pediat, Baltimore, MD 21205 USA Johns Hopkins Univ Baltimore MD USA 21205 Pediat, Baltimore, MD 21205 USA
Titolo Testata:
MOLECULAR GENETICS AND METABOLISM
fascicolo: 4, volume: 70, anno: 2000,
pagine: 301 - 309
SICI:
1096-7192(200008)70:4<301:HACGNM>2.0.ZU;2-V
Fonte:
ISI
Lingua:
ENG
Soggetto:
PROTEIN; CLONING; LOCALIZATION; EXPRESSION; TUMORS; LUNG;
Keywords:
acid ceramidase (AC); Farber disease (FD); lipogranulomatosis; gene mutations; ceramide;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
28
Recensione:
Indirizzi per estratti:
Indirizzo: Mukherjee, AB Bldg 10,Room 9S241, Bethesda, MD 20892 USA Bldg 10,Room 9S241 Bethesda MD USA 20892 esda, MD 20892 USA
Citazione:
Z.J. Zhang et al., "Human acid ceramidase gene: Novel mutations in Farber disease", MOL GEN MET, 70(4), 2000, pp. 301-309

Abstract

Farber disease is an autosomal recessive disorder caused by lysosomal acidceramidase (AC) deficiency, It commonly manifests during the first few months after birth with a unique triad of painful and progressive deformed joints, subcutaneous nodules, and progressive hoarseness, In order to understand the molecular mechanism(s) of pathogenesis of Farber disease, we isolated and characterized a full-length human AC gene, mapped its chromosomal location, determined the tissue-specific expression, and analyzed mutations inFarber disease patients. We also studied the AC-mRNA expression in gastrointestinal tumors and adjoining normal tissues. In addition, we determined the pattern of tissue-specific AC-mRNA expression in the adult mouse and during fetal development. Our results show that human AC gene consists of 14 exons and 13 introns spanning approximately 26.5 kb of genomic DNA. It is mapped to human chromosome 8p22-21.2, a region often disrupted in several cancers. The AC-mRNA is expressed in the mouse fetus from the seventh day of gestation. Interestingly, while the AC-mRNA is expressed in all segments of the normal gastrointestinal tract, none of the gastrointestinal tumor tissues had any AC-mRNA expression. We also uncovered four novel mutations in Farber disease patients that were not previously reported. Taken together, our results not only attest to the physiological importance of AC but also uncover several new mutations in Farber disease that may advance our knowledge towards establishing a genotype-phenotype correlation in this disease. (C) 2000 Academic Press.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 30/05/20 alle ore 15:07:43