1988 Fiscal Year Final Research Report Summary
THE ANALYSIS OF PHOSPHOGLYCERATE MUTASE DEFICIENCY AT MOLECULAR LEVEL
| Project/Area Number |
62570367
|
|---|
| Research Category |
Grant-in-Aid for General Scientific Research (C)
|
| Allocation Type | Single-year Grants |
|---|
| Research Field |
Neurology
|
|---|
| Research Institution | OSAKA UNIVERSITY |
|---|
Principal Investigator |
SAKODA Saburo ASSISTANT PROFESSOR, OSAKA UNIVERSITY SCHOOL OF MEDICINE, 医学部, 助手 (00178625)
|
|---|
| Co-Investigator(Kenkyū-buntansha) |
TSUJINO Seiichi INSTRUCTOR, OSAKA UNIVERSITY HOSPITAL, 医学部附属病院, 医員 (70280790)
MIZUNO Ryuzo INSTRUCTOR, OSAKA UNIVERSITY HOSPITAL, 医学部附属病院, 医員
SUZUKI Tomokazu PROFESSOR, MEDICAL INSTITUTE OF BIOREGULATION, KYUSHU UNIVERSITY, 生体防御医学研究所, 教授 (20028517)
|
|---|
| Project Period (FY) |
1987 – 1988
|
| Keywords | Phosphoglycerale mulase / Muscle / Deficiency / Genomic DNA |
|---|
| Research Abstract |
To analyze the patients with PGAM-M deflelency and to investigate tissue specific expression of PGAM, we report the isolation and analysis of genomic clones containing the entire gene encoding the muscle-specific isoform of human phosphoglycerate mutase (PGAM-M). The gene spans 2.86kb and has a three-exon/two-intron structure that is similar to the organization of the human 2,3-bisphosphoglycerate mutase (BPGM) gene, in that the second introns of both genes are localized precisely at the same position. This structural similarity supports that PGAM-M and BPGM evoled from a common ancestral gene. A canonical "TATA box" and an inverted "CCAAT box" are present immediately in the 5'-flanking region of this housekeepinge gene. Comparison with other muscle-specific enzyme genes reveals a conserved 9-bp element (GGGGCTGGG) in the 5'flanking region that may be associated with the expression of genes encoding muscle-specific housekeeping enzymes. The following experiments are under investigation; the analysis of patients with PGAM-M deficiency at molecular level using polymerase chain reaction and the chromosomal assignment of PGAM-M using PGAM-M specific intron probe.
|
