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176557

terminal nucleotidyltransferase 4B OKDB#: 5768
 Symbols: TENT4B Species: human
 Synonyms: TUT3, PAPD5, TRF4-2  Locus: 16q12.1 in Homo sapiens


For retrieval of Nucleotide and Amino Acid sequences please go to: OMIM Entrez Gene
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General Comment Small-Molecule PAPD5 Inhibitors Restore Telomerase Activity in Patient Stem Cells. Nagpal N et al. (2020) Genetic lesions that reduce telomerase activity inhibit stem cell replication and cause a range of incurable diseases, including dyskeratosis congenita (DC) and pulmonary fibrosis (PF). Modalities to restore telomerase in stem cells throughout the body remain unclear. Here, we describe small-molecule PAPD5 inhibitors that demonstrate telomere restoration in vitro, in stem cell models, and in vivo. PAPD5 is a non-canonical polymerase that oligoadenylates and destabilizes telomerase RNA component (TERC). We identified BCH001, a specific PAPD5 inhibitor that restored telomerase activity and telomere length in DC patient induced pluripotent stem cells. When human blood stem cells engineered to carry DC-causing PARN mutations were xenotransplanted into immunodeficient mice, oral treatment with a repurposed PAPD5 inhibitor, the dihydroquinolizinone RG7834, rescued TERC 3' end maturation and telomere length. These findings pave the way for developing systemic telomere therapeutics to counteract stem cell exhaustion in DC, PF, and possibly other aging-related diseases.//////////////////

General function Enzyme
Comment
Cellular localization
Comment
Ovarian function
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Expression regulated by
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Ovarian localization Oocyte, Granulosa
Comment
Follicle stages
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Phenotypes
Mutations 0 mutations
Genomic Region show genomic region
Phenotypes and GWAS show phenotypes and GWAS
Links
OMIM (Online Mendelian Inheritance in Man: an excellent source of general gene description and genetic information.)
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created: April 28, 2020, 2:50 p.m. by: system   email:
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last update: April 28, 2020, 2:53 p.m. by: hsueh    email:



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