HOMEPRODUCTSCOMPANYCONTACTFAQResearchDictionaryPharmaSign Up FREE or Login

Molecular defect of a phosphoglycerate kinase variant (PGK-Matsue) associated with hemolytic anemia: Leu----Pro substitution caused by T/A----C/G transition in exon 3.

Abstract
We have identified the mutation in a phosphoglycerate kinase variant (PGK-Matsue) associated with severe enzyme deficiency, congenital nonspherocytic hemolytic anemia, and mental disorders. The mRNA coding for PGK was reverse transcribed and amplified by the polymerase chain reaction. Nucleotide sequencing of the variant cDNA showed a point mutation, a T/A----C/G transition in exon 3 of the variant gene. No other mutation was found in all coding regions of PGK-Matsue. The nucleotide change created an additional NciI cleavage site in the variant gene; thus, the NciI fragment types detected by Southern blot hybridization differ in the variant DNA and normal DNA. The mutation should cause Leu----Pro substitution at the 88th position from the NH2-terminal Ser of PGK. Because the Leu----Pro substitution is expected to induce serious perturbation and instability in the protein structure, the severe enzyme deficiency is mainly caused by more rapid in vivo denaturation and degradation of the variant enzyme.
AuthorsM Maeda, A Yoshida
JournalBlood (Blood) Vol. 77 Issue 6 Pg. 1348-52 (Mar 15 1991) ISSN: 0006-4971 [Print] United States
PMID2001457 (Publication Type: Journal Article, Research Support, U.S. Gov't, P.H.S.)
Chemical References
  • Guanine
  • Cytosine
  • DNA
  • Proline
  • Phosphoglycerate Kinase
  • Leucine
  • Adenine
  • Thymine
Topics
  • Adenine (analysis)
  • Anemia, Hemolytic (enzymology, genetics)
  • Base Sequence
  • Cytosine (analysis)
  • DNA (analysis, genetics)
  • Exons
  • Female
  • Guanine (analysis)
  • Humans
  • Leucine (analysis)
  • Male
  • Molecular Sequence Data
  • Mutation (genetics)
  • Phosphoglycerate Kinase (analysis, genetics)
  • Proline (analysis)
  • Thymine (analysis)

Join CureHunter, for free Research Interface BASIC access!

Take advantage of free CureHunter research engine access to explore the best drug and treatment options for any disease. Find out why thousands of doctors, pharma researchers and patient activists around the world use CureHunter every day.
Realize the full power of the drug-disease research graph!


Choose Username:
Email:
Password:
Verify Password:
Enter Code Shown: