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Genetic deficiencies, copy number variants, and single nucleotide variants of\n                    <jats:italic toggle=\"yes\">FAN1<\/jats:italic>\n                    have been linked to karyomegalic interstitial nephritis, 15q13.3 microdeletion\/microduplication syndrome (autism, schizophrenia, and epilepsy), cancer, and most recently repeat expansion diseases. For seven CAG repeat expansion diseases (Huntington\u2019s disease (HD) and certain spinocerebellar ataxias), modification of age of onset is linked to variants of specific DNA repair proteins.\n                    <jats:italic toggle=\"yes\">FAN1<\/jats:italic>\n                    variants are the strongest modifiers. Non-coding disease-delaying\n                    <jats:italic toggle=\"yes\">FAN1<\/jats:italic>\n                    variants and coding disease-hastening variants (p.R507H and p.R377W) are known, where the former may lead to increased FAN1 levels and the latter have unknown effects upon FAN1 functions. Current thoughts are that ongoing repeat expansions in disease-vulnerable tissues, as individuals age, promote disease onset. Fan1 is required to suppress against high levels of ongoing somatic CAG and CGG repeat expansions in tissues of HD and\n                    <jats:italic toggle=\"yes\">FMR1<\/jats:italic>\n                    transgenic mice respectively, in addition to participating in DNA interstrand crosslink repair.\n                    <jats:italic toggle=\"yes\">FAN1<\/jats:italic>\n                    is also a modifier of autism, schizophrenia, and epilepsy. Coupled with the association of these diseases with repeat expansions, this suggests a common mechanism, by which FAN1 modifies repeat diseases. Yet how any of the\n                    <jats:italic toggle=\"yes\">FAN1<\/jats:italic>\n                    variants modify disease is unknown. Here, we review\n                    <jats:italic toggle=\"yes\">FAN1<\/jats:italic>\n                    variants, associated clinical effects, protein structure, and the enzyme\u2019s attributed functional roles. We highlight how variants may alter its activities in DNA damage response and\/or repeat instability. A thorough awareness of the\n                    <jats:italic toggle=\"yes\">FAN1<\/jats:italic>\n                    gene and FAN1 protein functions will reveal if and how it may be targeted for clinical benefit.\n                  <\/jats:p>","DOI":"10.3233\/jhd-200448","type":"journal-article","created":{"date-parts":[[2021,2,9]],"date-time":"2021-02-09T21:45:49Z","timestamp":1612907149000},"page":"95-122","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":76,"title":["FAN1, a DNA Repair Nuclease, as a Modifier of Repeat Expansion Disorders"],"prefix":"10.1177","volume":"10","author":[{"given":"Amit L.","family":"Deshmukh","sequence":"first","affiliation":[{"name":"The Peter Gilgan Centre for Research and Learning","place":["Canada"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonio","family":"Porro","sequence":"additional","affiliation":[{"name":"University of Zurich","place":["Switzerland"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohiuddin","family":"Mohiuddin","sequence":"additional","affiliation":[{"name":"The Peter Gilgan Centre for Research and Learning","place":["Canada"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stella","family":"Lanni","sequence":"additional","affiliation":[{"name":"The Peter Gilgan Centre for Research and Learning","place":["Canada"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gagan B.","family":"Panigrahi","sequence":"additional","affiliation":[{"name":"The Peter Gilgan Centre for Research and Learning","place":["Canada"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie-Christine","family":"Caron","sequence":"additional","affiliation":[{"name":"Medical Biochemistry and Pathology; Laval University Cancer Research Center","place":["Canada"]},{"name":"CHU de Qu\u00e9bec Research Center","place":["Canada"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean-Yves","family":"Masson","sequence":"additional","affiliation":[{"name":"Medical Biochemistry and Pathology; Laval University Cancer Research Center","place":["Canada"]},{"name":"CHU de Qu\u00e9bec Research Center","place":["Canada"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessandro A.","family":"Sartori","sequence":"additional","affiliation":[{"name":"University of Zurich","place":["Switzerland"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christopher E.","family":"Pearson","sequence":"additional","affiliation":[{"name":"The Peter Gilgan Centre for Research and Learning","place":["Canada"]},{"name":"University of Toronto","place":["Canada"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2021,2,9]]},"reference":[{"key":"e_1_3_3_2_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.dnarep.2013.04.015"},{"key":"e_1_3_3_3_2","doi-asserted-by":"publisher","DOI":"10.1038\/nrm.2016.177"},{"issue":"6","key":"e_1_3_3_4_2","first-page":"355","article-title":"Prediction of the coding sequences of unidentified human genes","volume":"5","author":"Nagase T","year":"1998","unstructured":"NagaseT, IshikawaKI, SuyamaM, KikunoR, HirosawaM, MiyajimaN, et al.Prediction of the coding sequences of unidentified human genes. 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