Molecular genetics of uroporphyrinogen III synthase and congenital erythropoietic porphyria.

Title: Molecular genetics of uroporphyrinogen III synthase and congenital erythropoietic porphyria.
Identifier: AAI9605686
identifier: 9605686
Creator: Xu, Weiming.
Contributor: Adviser: Robert J. Desnick
Date: 1995
Language: English
Publisher: City University of New York.
Subject: Biology, Genetics | Biology, Molecular
Abstract: Uroporphyrinogen III synthase (URO-S; EC 4.2.1.75), the fourth enzyme in the heme biosynthetic pathway, is responsible for the conversion of hydroxymethylbilane to the cyclic tetrapyrrole, uroporphyrinogen III, and deficient URO-S is the enzymatic defect in congenital erythropoietic porphyria (CEP). Studies were undertaken to characterize the molecular genetics of UROS and the nature of the genetic defects which cause CEP. These studies included: (1) identification of UROS mutations in unrelated CEP patients which established the molecular genetic heterogeneity of this disease; (2) isolation of the murine counterpart of the human UROS cDNA and recognition of two murine and two human UROS transcripts by alternative splicing from the same gene, and (3) further characterization of the genomic structure, including the first identification of a regulatory mutation in two human CEP patients.
Type: dissertation
Source: PQT Legacy CUNY.xlsx
degree: Ph.D.

Media: Molecular genetics of uroporphyrinogen III synthase and congenital erythropoietic porphyria.