Gene Structure & Disease Section - NIDDK (original) (raw)

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The fragile X locus is prone to spontaneous DNA damage that is preferentially repaired by nonhomologous end-joining to preserve genome integrity.

Kumari D, Lokanga RA, McCann C, Ried T, Usdin K.

iScience (2024 Feb 16) 27:108814. Abstract/Full Text

Both cis and trans-acting genetic factors drive somatic instability in female carriers of the FMR1 premutation.

Hwang YH, Hayward BE, Zafarullah M, Kumar J, Durbin Johnson B, Holmans P, Usdin K, Tassone F.

Sci Rep (2022 Jun 21) 12:10419. Abstract/Full Text

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Last Reviewed March 2024