TOP > J-EAST > List of Journal Titles (J) > Journal of the Japanese Society of Internal Medicine(1999) > Molecular mechanism and clinic of aging. 3 Human progeria gene. Molecular mechanism and clinic of aging. 3 Human progeria gene.Accession number;99A0954122
Title;Molecular mechanism and clinic of aging. 3 Human progeria gene.
Author;MIKI TETSURO(Ehime Univ.) MORISHIMA ATSUYUKI(Ehime Univ.) NAKURA JUN(Ehime Univ.)
Journal Title;Journal of the Japanese Society of Internal Medicine
Journal Code:F0916A
ISSN:0021-5384
VOL.88;NO.9;PAGE.1701-1705(1999)
Figure&Table&Reference;FIG.1, TBL.2, REF.2
Pub. Country;Japan
Language;Japanese
Abstract;Werner's syndrome (W), one of hereditary progeria, is generally short stature with developing cataract, gray hair and hair removal from about 20 years old, and shows high frequency of malignant tumor. RNA of the cause gene of W is length of about 5.8kb, and it is acidic protein (DNA helicase) consisting of 1432 amino acids. In the causal gene mutation of W, a type, in which the translation of the protein has stopped due to single base substitution of the protein translation region during the translation and a type in which the abnormal splicing occurs due to the mutation of the connecting point of exon and intron in mRNA. The causal gene of Bloom's syndrome, a part of complementary group of Cokayne's syndrome and a part of complementary group of xeroderma pigmentosum except for W are protein with the helicase domain.