Lack of mutations of the human telomerase RNA gene (hTERC) in myelodysplastic syndrome.
نویسندگان
چکیده
Myelodysplastic syndrome (MDS), considered a pre-leukemic state, has recently been categorized as a subset of bone marrow failure syndromes. Unlike other subtypes of bone marrow failure syndromes, such as aplastic anemia or dyskeratosis congenita, little is known about genetic alterations of human telomerase in MDS, despite the fact that immune cells from patients with MDS frequently exhibit telomere attrition.
منابع مشابه
Detention of HPV L1 Capsid Protein and hTERC Gene in Screening of Cervical Cancer
Objective(s): To investigate the expression of human papilloma virus (HPV) L1 capsid protein, and human telomerase RNA component (hTERC) in cervical cancer and the role of detection of both genes in screening of cervical cancer. Materials and Methods: A total of 309 patients were recruited and cervical exfoliated cells were collected. Immunocytochemistry was employed to detect HPV L1 capsid...
متن کاملFunctional characterization of natural telomerase mutations found in patients with hematologic disorders.
Human telomerase hTERC RNA serves as a template for the catalytic hTERT protein to synthesize telomere repeats at chromosome ends. We have recently shown that some patients with bone marrow failure syndromes are heterozygous carriers for hTERC or hTERT mutations. These sequence variations usually lead to a compromised telomerase function by haploinsufficiency. Here, we provide functional charac...
متن کاملFunctional characterization of mutations in the promoter proximal region of the telomerase hTERC gene identified in patients with hematological disorders.
Telomerase RNA gene (hTERC) mutations have been identified in a subset of patients with bone-marrow failure syndromes (BMFS). While most of the mutations were found in the coding region of hTERC, some rare disease-associated mutations as well as polymorphic sequence changes were found in the promoter proximal region of the gene, including the -99C/G sequence change that was thought to modulate ...
متن کاملLack of telomerase RNA gene hTERC expression in alternative lengthening of telomeres cells is associated with methylation of the hTERC promoter.
The immortal phenotype of most human cancers is attributable to telomerase expression. However, a number of immortal cell lines and tumors achieve telomere maintenance in the absence of telomerase via alternative mechanisms known as ALT (alternative lengthening of telomeres). Here we show that the promoter of the telomerase RNA gene (hTERC) is methylated in three of five ALT cell lines and is a...
متن کاملFunctional characterization of telomerase RNA variants found in patients with hematologic disorders.
Human telomerase uses a specific cellular RNA, called hTERC, as the template to synthesize telomere repeats at chromosome ends. Approximately 10% to 15% of patients with aplastic anemia or other bone marrow failure syndromes are carriers of hTERC sequence variants whose functional significance, in most cases, is unknown. We screened 10 reported and 2 newly discovered hTERC variants from such pa...
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:
- Haematologica
دوره 90 5 شماره
صفحات -
تاریخ انتشار 2005