{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,30]],"date-time":"2026-07-30T14:27:05Z","timestamp":1785421625293,"version":"3.56.0"},"reference-count":57,"publisher":"MDPI AG","issue":"13","license":[{"start":{"date-parts":[[2026,6,27]],"date-time":"2026-06-27T00:00:00Z","timestamp":1782518400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"STI2030-Major Projects","award":["2021ZD0203900"],"award-info":[{"award-number":["2021ZD0203900"]}]},{"name":"Major Science and Technology Program of Yunnan","award":["202502AU100002"],"award-info":[{"award-number":["202502AU100002"]}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["32388102"],"award-info":[{"award-number":["32388102"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"award":["32388102"],"award-info":[{"award-number":["32388102"]}],"id":[{"id":"https:\/\/ror.org\/01h0zpd94","id-type":"ROR","asserted-by":"publisher"}]},{"name":"Spring City Plan: The High-level Talent Promotion and Training Project of Kunming","award":["2022SCP001"],"award-info":[{"award-number":["2022SCP001"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Animals"],"abstract":"<jats:p>Cerebellar ataxia is clinically and genetically heterogeneous, and candidate variant prioritization is particularly difficult when only a single affected animal is available. We combined structural MRI of one affected Border Collie and six controls with whole-genome sequencing of the affected dog and 31 comparison dogs. MRI revealed widened cerebellar folial spaces and reduced bilateral cerebellar gray matter volume, without global brain atrophy or spinal cord lesioning. Parallel heterozygous and recessive variant screens, together with identity-by-descent, runs-of-homozygosity, structural-variant, and repeat-expansion analyses, narrowed the candidates to six non-MODIFIER variants. Among these, a heterozygous PACSIN1 splice-donor variant (chr12:3,985,222 T &gt; G) was private to the affected dog in the analyzed cohort and affects a conserved residue in the F-BAR domain. No segregation, replication, or functional validation data are currently available. These results prioritize the PACSIN1 variant as a testable candidate and demonstrate the utility of imaging-guided genomic prioritization in underpowered veterinary cohorts.<\/jats:p>","DOI":"10.3390\/ani16131987","type":"journal-article","created":{"date-parts":[[2026,6,29]],"date-time":"2026-06-29T02:16:44Z","timestamp":1782699404000},"page":"1987","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Integrative MRI and Genomics Analyses Prioritize PACSIN1 as a Candidate Gene for Cerebellar Ataxia in Border Collies"],"prefix":"10.3390","volume":"16","author":[{"ORCID":"https:\/\/orcid.org\/0009-0004-1295-6752","authenticated-orcid":false,"given":"Ding-Jun","family":"Jin","sequence":"first","affiliation":[{"name":"State Key Laboratory of Genetic Evolution & Animal Models, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming 650223, China"},{"name":"Kunming College of Life Science, University of Chinese Academy of Sciences, Kunming 650201, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shuo-Chen","family":"Jiang","sequence":"additional","affiliation":[{"name":"Bio-X Center for Interdisciplinary Innovation and State Key Laboratory for Conservation and Utilization of Bio-Resources, Yunnan University, Kunming 650091, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jin-Xiu","family":"Li","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Genetic Evolution & Animal Models, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming 650223, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yan-Hu","family":"Liu","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Genetic Evolution & Animal Models, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming 650223, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0008-5955-8160","authenticated-orcid":false,"given":"Bo-Wen","family":"Zhou","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Genetic Evolution & Animal Models, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming 650223, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5401-1114","authenticated-orcid":false,"given":"Ya-Ping","family":"Zhang","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Genetic Evolution & Animal Models, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming 650223, China"},{"name":"Kunming College of Life Science, University of Chinese Academy of Sciences, Kunming 650201, China"},{"name":"Bio-X Center for Interdisciplinary Innovation and State Key Laboratory for Conservation and Utilization of Bio-Resources, Yunnan University, Kunming 650091, China"},{"name":"KIZ-CUHK Joint Laboratory of Bioresources and Molecular Research in Common Diseases, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming 650223, China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2026,6,27]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"208","DOI":"10.1007\/s00415-022-11383-6","article-title":"The Inherited Cerebellar Ataxias: An Update","volume":"270","author":"Coarelli","year":"2023","journal-title":"J. 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