2002 Fiscal Year Final Research Report Summary
Investigation of the imprinted domain located at the chromosomal deletion associated with Prader-Willi syndrome
| Project/Area Number |
13670858
|
|---|
| Research Category |
Grant-in-Aid for Scientific Research (C)
|
| Allocation Type | Single-year Grants |
|---|
| Section | 一般 |
|---|
| Research Field |
Pediatrics
|
|---|
| Research Institution | National Center of Neurology and Psychiatry |
|---|
Principal Investigator |
KUBOTA Takeo National Center of Neurology and Psycniatry, Head, 疾病研究第2部, 室長 (70293511)
|
|---|
| Co-Investigator(Kenkyū-buntansha) |
FUKUSHIMA Yoshimitsu Shinshu University School of Medicine, Professor, 医学部・社会予防医学講座, 教授 (70273084)
|
|---|
| Project Period (FY) |
2001 – 2002
|
| Keywords | imprinting / domain / methylation / Prader-Willi Syndrome / methylation-specific PCR / translocation / deletion / mono allelic |
|---|
| Research Abstract |
Prader-Willi syndrome (PWS) is one of the famous diseases that are characterized by obesity and mental retardation. Most of the patients share the same chromosome deletion at 15q11-q13. The deletion always occurs on the paternal chromosome, suggesting involvement of the genomic imprinting. Although several imprinted genes has been discovered within this deletion, it has yet not known whether some additional imprinted genes exist outside of the deletion, "an imprinted domain".
We found a severe PWS patient with a large chromosome 15 deletion and found that its distal breakpoint was located approximately 20kb more telomeric from the common breakpoint of that of the usual PWS patient. Using the cultured cells from this severe patient, we investigated genes (ESTs) mapped in the extra deleted whether some of these are imprinted. As a result, we found that none of these genes was imprinted at least in the lymphoblast cells. Therefore, we could not obtain the proof that indicates the imprinted domain was larger than thought. These above data have recently been published in Clinical Genetics.
|
-
-
-
-
-
-
-
-
-
-
-
-
[Publications] Matsumura M, Kubota T, Hidaka E, Wakui K, Kadowaki S, Ueta I, Shimizu T, Ueno I, Yamauchi K, Herzing LB, Nurmi E, Sutcliffe JS, Fukushima Y, Katsuyama T: "Severe Prader-Willi syndrome with a large deletion of chromosome 15 due to an unbalanced t(15 ; 22)(q14 ; 11.2) translocation"Clinical Genet. 63. 79-81 (2003)
Description
「研究成果報告書概要(欧文)」より
