{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,27]],"date-time":"2026-07-27T22:47:40Z","timestamp":1785192460341,"version":"3.55.0"},"reference-count":52,"publisher":"The Company of Biologists","issue":"5","license":[{"start":{"date-parts":[[2022,5,13]],"date-time":"2022-05-13T00:00:00Z","timestamp":1652400000000},"content-version":"vor","delay-in-days":12,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/100000062","name":"National Institute of Diabetes and Digestive and Kidney Diseases","doi-asserted-by":"crossref","award":["DK057808"],"award-info":[{"award-number":["DK057808"]}],"id":[{"id":"10.13039\/100000062","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/100009608","name":"Western Washington University","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100009608","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2022,5,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n               <jats:p>Repeat expansion diseases are a large group of human genetic disorders caused by expansion of a specific short tandem repeat tract. Expansion in somatic cells affects age of onset and disease severity in some of these disorders. However, alleles in DNA derived from blood, a commonly used source of DNA, usually show much less expansion than disease-relevant cells in the central nervous system in both humans and mouse models. Here we examined the extent of expansion in different DNA sources from mouse models of the fragile X-related disorders, Huntington's disease, spinocerebellar ataxia type 1 and spinocerebellar ataxia type 2. We found that DNA isolated from stool is a much better indicator of somatic expansion than DNA from blood. As stool is a sensitive and noninvasive source of DNA, it can be useful for studies of factors affecting the risk of expansion, or the monitoring of treatments aimed at reducing expansion in preclinical trials, as it would allow expansions to be examined longitudinally in the same animal and allow significant changes in expansion to be observed much earlier than is possible with other DNA sources.<\/jats:p>","DOI":"10.1242\/dmm.049453","type":"journal-article","created":{"date-parts":[[2022,4,11]],"date-time":"2022-04-11T11:00:32Z","timestamp":1649674832000},"source":"Crossref","is-referenced-by-count":7,"title":["Stool is a sensitive and noninvasive source of DNA for monitoring expansion in repeat expansion disease mouse models"],"prefix":"10.1242","volume":"15","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7281-3914","authenticated-orcid":false,"given":"Xiaonan","family":"Zhao","sequence":"first","affiliation":[{"name":"Section on Gene Structure and Disease, Laboratory of Cell and Molecular Biology, National Institute of Diabetes, Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cassandra","family":"McHugh","sequence":"additional","affiliation":[{"name":"Behavioral Neuroscience Program, Psychology Department, Western Washington University, Bellingham, WA 98225, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1477-2197","authenticated-orcid":false,"given":"Sydney R.","family":"Coffey","sequence":"additional","affiliation":[{"name":"Behavioral Neuroscience Program, Psychology Department, Western Washington University, Bellingham, WA 98225, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Diego Antonio","family":"Jimenez","sequence":"additional","affiliation":[{"name":"Section on Gene Structure and Disease, Laboratory of Cell and Molecular Biology, National Institute of Diabetes, Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9124-1392","authenticated-orcid":false,"given":"Elizabeth","family":"Adams","sequence":"additional","affiliation":[{"name":"Behavioral Neuroscience Program, Psychology Department, Western Washington University, Bellingham, WA 98225, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1711-8868","authenticated-orcid":false,"given":"Jeffrey B.","family":"Carroll","sequence":"additional","affiliation":[{"name":"Behavioral Neuroscience Program, Psychology Department, Western Washington University, Bellingham, WA 98225, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3295-0740","authenticated-orcid":false,"given":"Karen","family":"Usdin","sequence":"additional","affiliation":[{"name":"Section on Gene Structure and Disease, Laboratory of Cell and Molecular Biology, National Institute of Diabetes, Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"237","published-online":{"date-parts":[[2022,5,13]]},"reference":[{"key":"2022051308394209200_DMM049453C1","doi-asserted-by":"publisher","first-page":"614","DOI":"10.1681\/ASN.2020050757","article-title":"Urinary single-cell profiling captures the cellular diversity of the kidney","volume":"32","author":"Abedini","year":"2021","journal-title":"J. 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