Fine structure of the human hypoxanthine phosphoribosyltransferase gene.
نویسندگان
چکیده
منابع مشابه
Fine structure of the human hypoxanthine phosphoribosyltransferase gene.
The human hypoxanthine phosphoribosyltransferase (HPRT) gene has been characterized by molecular cloning, mapping, and DNA sequencing techniques. The entire gene, which is about 44 kilobases in length, is composed of nine exon elements. The positions of the introns within the coding sequence are identical to those of the previously-characterized mouse HPRT gene, although there are significant d...
متن کاملPrioritization of Deleterious Variations in the Human Hypoxanthine-Guanine Phosphoribosyltransferase Gene
ABSTRACT Background and Objectives: Non-synonymous single nucleotide polymorphisms are typical genetic variations that may potentially affect the structure or function of expressed proteins, and therefore could be involved in complex disorders. A computational-based analysis has been done to evaluate the phenotypic effect of no...
متن کاملHuman hypoxanthine-guanine phosphoribosyltransferase.
A mutant form of human hypoxanthine-guanine phosphoribosyltransferase (HPRTToronto) was isolated from erythrocytes of a male patient with gout due to a partial deficiency of enzyme activity. The tryptic peptides of HPRTToronto were mapped by reverse-phase high pressure liquid chromatography in an attempt to define the precise abnormality in its primary structure. Sequence analysis of the single...
متن کاملHuman Hypoxanthine Phosphoribosyltransferase
Hypoxanthine phosphoribosyltransferase (inosine monophosphate: pyrophosphate phosphoribosyltransferase EC 2.4.2.8) has been purified SO-fold from an acid-treated lysate of human erythrocytes. The average particle weight of the enzyme was estimated by gel filtration at 60,000. Between the pH values of 7.1 and 9.1 no marked difference in the initial velocity of IMP synthesis was observed. Kinetic...
متن کاملMolecular structure and genetic stability of human hypoxanthine phosphoribosyltransferase (HPRT) gene duplications.
We have determined the genetic stability of three independent intragenic human HPRT gene duplications and the structure of each duplication at the nucleotide sequence level. Two of the duplications were isolated as spontaneous mutations from the HL60 human myeloid leukemia cell line, while the third was originally identified in a Lesch-Nyhan patient. All three duplications are genetically unsta...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Molecular and Cellular Biology
سال: 1986
ISSN: 0270-7306,1098-5549
DOI: 10.1128/mcb.6.2.393