Article

Separation of telomere protection from length regulation by two different point mutations at amino acid 492 of RTEL1

2024-02-29

Abstract excerpt

RTEL1 is an essential DNA helicase that plays multiple roles in genome stability and telomere length regulation. A variant of RTEL1 with a lysine at position 492 is associated with short telomeres in Mus spretus , while a conserved methionine at this position is found in M. musculus , which has ultra-long telomeres. In humans, a missense mutation at this position ( Rtel1 M492I ) causes a fatal telomere biology...

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Literature Corpus work: 48fa9600-b2c9-5bd0-b1a0-a6f3480cd97f
DOI: 10.1101/2024.02.26.582005

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