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. Author manuscript; available in PMC: 2014 Oct 1.
Published in final edited form as: Semin Hematol. 2013 Oct;50(4):10.1053/j.seminhematol.2013.09.002. doi: 10.1053/j.seminhematol.2013.09.002

Figure 2. Dyskeratosis Congenita genetics and biologic pathway.

Figure 2

Figure 2

A) Schematic of the telomere and functions of the proteins affected in dyskeratosis congenita and the related telomere biology disorders. Protein names are shown. Abbreviations: TCAB1, telomere Cajal body associated protein 1 (gene name: WRAP53); TIN2, TRF1-interacting nuclear factor 2 (TINF2); NOP10, NOP10 ribonucleoprotein (NOP10); NHP2, NHP2 ribonucleoprotein (NHP2); DKC1, dyskerin (DKC1); TERC, telomerase RNA component (TERC); TERT, telomerase (TERT); RTEL1, regulator of telomere elongation helicase 1 (RTEL1); CTC1, CTS telomere maintenance complex component 1 (CTC1)

B) Approximate timeline and methods of gene discovery in DC