Positional cloning of the Werner's syndrome gene.
نویسندگان
چکیده
Werner's syndrome (WS) is an inherited disease with clinical symptoms resembling premature aging. Early susceptibility to a number of major age-related diseases is a key feature of this disorder. The gene responsible for WS (known as WRN) was identified by positional cloning. The predicted protein is 1432 amino acids in length and shows significant similarity to DNA helicases. Four mutations in WS patients were identified. Two of the mutations are splice-junction mutations, with the predicted result being the exclusion of exons from the final messenger RNA. One of the these mutations, which results in a frameshift and a predicted truncated protein, was found in the homozygous state in 60 percent of Japanese WS patients examined. The other two mutations are nonsense mutations. The identification of a mutated putative helicase as the gene product of the WS gene suggests that defective DNA metabolism is involved in the complex process of aging in WS patients.
منابع مشابه
Molecular cloning and recombinant expression of the VP28 (wsv421 gene) from Iranian white spot syndrome virus isolate
White spot syndrome virus (WSSV) is a highly pathogenic and prevalent virus affecting shrimp culture worldwide including Iran. In the present study, a pair of primers was designed according to the sequence of VP 28 gene of WSSV in the GenBank. VP28 gene from an Iranian WSSV isolate (IrVP28) was cloned, sequenced and expressed in Escherichia coli BL21(DE3) strain in order to produce VP28 protein...
متن کاملMolecular cloning and recombinant expression of the VP28 (wsv421 gene) from Iranian white spot syndrome virus isolate
White spot syndrome virus (WSSV) is a highly pathogenic and prevalent virus affecting shrimp culture worldwide including Iran. In the present study, a pair of primers was designed according to the sequence of VP 28 gene of WSSV in the GenBank. VP28 gene from an Iranian WSSV isolate (IrVP28) was cloned, sequenced and expressed in Escherichia coli BL21(DE3) strain in order to produce VP28 protein...
متن کاملNovel LMNA Gene Mutation in a Patient With Atypical Werner's Syndrome
Hutchinson-Gilford progeria syndrome (HGPS) and Werner's syndrome are representative types of progeroid syndrome. LMNA (Lamin A/C) gene mutation with atypical Werner's syndrome have recently been reported. Atypical Werner's syndrome with the severe metabolic complications, the extent of the lipodystrophy is associated with A133L mutation in the LMNA gene and these patients present with phenotyp...
متن کاملOptimization and Construction of Human Insulin-like Growth Factor 1 Gene related to human health
Background and aims: Laron syndrome is a disease that treated by Insulin-like Growth Factor 1 (IGF-1). This protein is a single chain and has three disulfide bonds. People with Laron syndrome have low rates of cancer and diabetes, although they appear to be at increased risk of casual death due to their stature. IGF-1 is synthesized by many tissues and is secreted from liver as an endocrine hor...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید
ثبت ناماگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید
ورودعنوان ژورنال:
- Science
دوره 272 5259 شماره
صفحات -
تاریخ انتشار 1996