Tags

Type your tag names separated by a space and hit enter

A zebrafish model for hepatoerythropoietic porphyria.
Nat Genet. 1998 Nov; 20(3):239-43.NGen

Abstract

Defects in the enzymes involved in the haem biosynthetic pathway can lead to a group of human diseases known as the porphyrias. yquem (yqe(tp61)) is a zebrafish mutant with a photosensitive porphyria syndrome. Here we show that the porphyric phenotype is due to an inherited homozygous mutation in the gene encoding uroporphyrinogen decarboxylase (UROD); a homozygous deficiency of this enzyme causes hepatoerythropoietic porphyria (HEP) in humans. The zebrafish mutant represents the first genetically 'accurate' animal model of HEP, and should be useful for studying the pathogenesis of UROD deficiency and evaluating gene therapy vectors. We rescued the mutant phenotype by transient and germline expression of the wild-type allele.

Authors+Show Affiliations

Institute of Molecular Medicine and Genetics & Department of Biochemistry and Molecular Biology, Medical College of Georgia, Augusta 30912, USA.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, P.H.S.

Language

eng

PubMed ID

9806541

Citation

Wang, H, et al. "A Zebrafish Model for Hepatoerythropoietic Porphyria." Nature Genetics, vol. 20, no. 3, 1998, pp. 239-43.
Wang H, Long Q, Marty SD, et al. A zebrafish model for hepatoerythropoietic porphyria. Nat Genet. 1998;20(3):239-43.
Wang, H., Long, Q., Marty, S. D., Sassa, S., & Lin, S. (1998). A zebrafish model for hepatoerythropoietic porphyria. Nature Genetics, 20(3), 239-43.
Wang H, et al. A Zebrafish Model for Hepatoerythropoietic Porphyria. Nat Genet. 1998;20(3):239-43. PubMed PMID: 9806541.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A zebrafish model for hepatoerythropoietic porphyria. AU - Wang,H, AU - Long,Q, AU - Marty,S D, AU - Sassa,S, AU - Lin,S, PY - 1998/11/7/pubmed PY - 2001/3/23/medline PY - 1998/11/7/entrez SP - 239 EP - 43 JF - Nature genetics JO - Nat. Genet. VL - 20 IS - 3 N2 - Defects in the enzymes involved in the haem biosynthetic pathway can lead to a group of human diseases known as the porphyrias. yquem (yqe(tp61)) is a zebrafish mutant with a photosensitive porphyria syndrome. Here we show that the porphyric phenotype is due to an inherited homozygous mutation in the gene encoding uroporphyrinogen decarboxylase (UROD); a homozygous deficiency of this enzyme causes hepatoerythropoietic porphyria (HEP) in humans. The zebrafish mutant represents the first genetically 'accurate' animal model of HEP, and should be useful for studying the pathogenesis of UROD deficiency and evaluating gene therapy vectors. We rescued the mutant phenotype by transient and germline expression of the wild-type allele. SN - 1061-4036 UR - https://www.unboundmedicine.com/medline/citation/9806541/A_zebrafish_model_for_hepatoerythropoietic_porphyria_ L2 - http://dx.doi.org/10.1038/3041 DB - PRIME DP - Unbound Medicine ER -