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Due to the late onset of BSP and BSS and the massively decreased lifespan of modern cattle, the importance of these diseases is underestimated. In the present study, BSP\/BSS-affected German Holstein breeding sires from artificial insemination centers were collected and pedigree analysis, genome-wide association studies, whole genome resequencing, protein\u2013protein interaction network analysis, and protein-homology modeling were performed to elucidate the genetic background. The analysis of 46 affected and 213 control cattle revealed four significantly associated positions on chromosome 15 (BTA15), i.e., AC_000172.1:g.83465449A&amp;gt;G (\u2013log<jats:sub>10<\/jats:sub>P = 19.17), AC_000172.1:g.81871849C&amp;gt;T (\u2013log<jats:sub>10<\/jats:sub>P = 8.31), AC_000172.1:g.81872621A&amp;gt;T (\u2013log<jats:sub>10<\/jats:sub>P = 6.81), and AC_000172.1:g.81872661G&amp;gt;C (\u2013log<jats:sub>10<\/jats:sub>P = 6.42). Two additional loci were significantly associated located on BTA8 and BTA19, i.e., AC_000165.1:g.71177788T&amp;gt;C and AC_000176.1:g.30140977T&amp;gt;G, respectively. Whole genome resequencing of five affected individuals and six unaffected relatives (two fathers, two mothers, a half sibling, and a full sibling) belonging to three different not directly related families was performed. After filtering, a homozygous loss of function variant was identified in the affected cattle, causing a frameshift in the so far unknown gene locus LOC100848076 encoding an adenosine-A1-receptor homolog. An allele frequency of the variant of 0.74 was determined in 3,093 samples of the 1000 Bull Genomes Project.<\/jats:p>","DOI":"10.3389\/fgene.2020.591794","type":"journal-article","created":{"date-parts":[[2020,11,30]],"date-time":"2020-11-30T05:48:08Z","timestamp":1606715288000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":7,"title":["Frameshift Variant in Novel Adenosine-A1-Receptor Homolog Associated With Bovine Spastic Syndrome\/Late-Onset Bovine Spastic Paresis in Holstein Sires"],"prefix":"10.3389","volume":"11","author":[{"given":"Frederik","family":"Krull","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marc","family":"Hirschfeld","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wilhelm Ewald","family":"Wemheuer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bertram","family":"Brenig","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2020,11,30]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"D789","DOI":"10.1093\/nar\/gku1205","article-title":"OMIM.org: Online Mendelian Inheritance in Man (OMIM(R)), an online catalog of human genes and genetic disorders","volume":"43","author":"Amberger","year":"2015","journal-title":"Nucleic Acids Res."},{"key":"B2","doi-asserted-by":"publisher","first-page":"773","DOI":"10.1016\/S1474-4422(07)70196-5","article-title":"Clinical features and viral serologies in children with multiple sclerosis: a multinational observational study","volume":"6","author":"Banwell","year":"2007","journal-title":"Lancet Neurol."},{"key":"B3","doi-asserted-by":"publisher","first-page":"2155","DOI":"10.1007\/s11011-017-0104-3","article-title":"Novel SPG20 mutation in an extended family with Troyer syndrome","volume":"32","author":"Bizzari","year":"2017","journal-title":"Metab. 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