Sandbox Reserved 1103: Difference between revisions

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TIN2 is one of the nine identified genes that when mutated are related to the Dyskeratosis congenita, the others being DKC1, TERC, TERT, NOP10, NHP2, TIN2, C16orf57, TCAB1 and PARN.

The mutated region of TIN2 in Dyskeratosis congenita patients is situated near the ends of its TRF1 binding domain. The majority of identified TIN2-DC mutations cluster in a highly conserved 30-amino-acid region from position 270 to 300, located eight amino acids C-terminal to the FxLxP motif that mediates binding of TIN2 to TRF1 <ref>PMID: 18252230 </ref>. Another proposal is that TIN2 help TPP1, another component of the shelterin complex, in the recruitment of telomerase through an unknown mechanism that is disrupted by the TIN2-DC mutations, including K280E.

The mutated region of TIN2 in Dyskeratosis congenita patients is situated near the ends of its TRF1 binding domain. The majority of identified TIN2-DC mutations cluster in a highly conserved 30-amino-acid region from position 270 to 300, located eight amino acids C-terminal to the FxLxP motif that mediates binding of TIN2 to TRF1 <ref>PMID: 18252230 </ref>. Another proposal is that TIN2 help TPP1, another component of the shelterin complex, in the recruitment of telomerase through an unknown mechanism that is disrupted by the TIN2-DC mutations, including K280E <ref>PMID: 18202258 </ref> <ref>PMID: 18252230 </ref>.

=== Revesz syndrome ===

Sandbox Reserved 1103: Difference between revisions

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 TIN2 is one of the nine identified genes that when mutated are related to the Dyskeratosis congenita, the others being DKC1, TERC, TERT, NOP10, NHP2, TIN2, C16orf57, TCAB1 and PARN.
-The mutated region of TIN2 in Dyskeratosis congenita patients is situated near the ends of its TRF1 binding domain. The majority of identified TIN2-DC mutations cluster in a highly conserved 30-amino-acid region from position 270 to 300, located eight amino acids C-terminal to the FxLxP motif that mediates binding of TIN2 to TRF1 <ref>PMID: 18252230 </ref>. Another proposal is that TIN2 help TPP1, another component of the shelterin complex, in the recruitment of telomerase through an unknown mechanism that is disrupted by the TIN2-DC mutations, including K280E.
+The mutated region of TIN2 in Dyskeratosis congenita patients is situated near the ends of its TRF1 binding domain. The majority of identified TIN2-DC mutations cluster in a highly conserved 30-amino-acid region from position 270 to 300, located eight amino acids C-terminal to the FxLxP motif that mediates binding of TIN2 to TRF1 <ref>PMID: 18252230 </ref>. Another proposal is that TIN2 help TPP1, another component of the shelterin complex, in the recruitment of telomerase through an unknown mechanism that is disrupted by the TIN2-DC mutations, including K280E <ref>PMID: 18202258 </ref> <ref>PMID: 18252230 </ref>.
 === Revesz syndrome ===