The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita

✍ Scribed by Vulliamy, Tom; Marrone, Anna; Goldman, Frederick; Dearlove, Andrew; Bessler, Monica; Mason, Philip J.; Dokal, Inderjeet

• Book ID: 109776033
• Publisher: Nature Publishing Group
• Year: 2001
• Tongue: English
• Weight: 195 KB
• Volume: 413
• Category: Article
• ISSN: 0028-0836
• DOI: 10.1038/35096585

✦ Synopsis

Dyskeratosis congenita is a progressive bone-marrow failure syndrome that is characterized by abnormal skin pigmentation, leukoplakia and nail dystrophy 1,2 . X-linked, autosomal recessive and autosomal dominant inheritance have been found in different pedigrees. The X-linked form of the disease is due to mutations in the gene DKC1 in band 2, sub-band 8 of the long arm of the X chromosome (ref. ). The affected protein, dyskerin, is a nucleolar