{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,21]],"date-time":"2026-04-21T04:53:34Z","timestamp":1776747214294,"version":"3.51.2"},"reference-count":23,"publisher":"MDPI AG","issue":"12","license":[{"start":{"date-parts":[[2021,11,26]],"date-time":"2021-11-26T00:00:00Z","timestamp":1637884800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100017600","name":"National Research Institute of Animal Production","doi-asserted-by":"publisher","award":["01-18-08-11"],"award-info":[{"award-number":["01-18-08-11"]}],"id":[{"id":"10.13039\/100017600","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Genetic disorders in horses are mostly fatal or usually cause significant economic losses for breeders and owners. Here we studied a total of 177 Arabian, Barb and Arab-Barb horses from the Middle East and North Africa (MENA) using Sanger Sequencing and PCR-ACRS (polymerase chain reaction\u2014artificially created restriction site) approaches to examine the genetic disorders in the studied horse breeds. We identified the genetic variations related to Cerebellar Abiotrophy (CA), Severe Combined Immunodeficiency (SCID) occurrence, and the studied population was free of the mutant allele determined Lavender Foal Syndrome (LFS). Overall, presented data showed that 15 of the studied horses are carriers of two genetic disorders; the investigated horse population showed that five Arabian horses were heterozygous for the CA-associated SNP (rs397160943). The SCID-deletion TCTCA within PRKDC was detected in ten horses (nine Arabian horses and one Arab-Barb horse). This investigation shows the importance of testing these breeds for genetic disorders to avoid further spread of deleterious variants<\/jats:p>","DOI":"10.3390\/genes12121893","type":"journal-article","created":{"date-parts":[[2021,11,29]],"date-time":"2021-11-29T05:23:02Z","timestamp":1638163382000},"page":"1893","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Investigation of Cerebellar Abiotrophy (CA), Lavender Foal Syndrome (LFS), and Severe Combined Immunodeficiency (SCID) Variants in a Cohort of Three MENA Region Horse Breeds"],"prefix":"10.3390","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9325-7889","authenticated-orcid":false,"given":"Abdelhanine","family":"Ayad","sequence":"first","affiliation":[{"name":"Department of Environment and Biological Sciences, Faculty of Nature and Life Sciences, University of Bejaia, Bejaia 06000, Algeria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Saria","family":"Almarzook","sequence":"additional","affiliation":[{"name":"Faculty of Applied Sciences, University of Applied Sciences Europe, 10963 Berlin, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Omar","family":"Besseboua","sequence":"additional","affiliation":[{"name":"Department of Agronomic and Biotechnological Sciences, Faculty of Nature and Life Sciences, University H. Benbouali, Chlef 02000, Algeria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sofiane","family":"Aissanou","sequence":"additional","affiliation":[{"name":"Department of Environment and Biological Sciences, Faculty of Nature and Life Sciences, University of Bejaia, Bejaia 06000, Algeria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4368-9624","authenticated-orcid":false,"given":"Katarzyna","family":"Pi\u00f3rkowska","sequence":"additional","affiliation":[{"name":"Department of Animal Molecular Biology, National Research Institute of Animal Production, Krakowska 1, 32-083 Balice, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4194-9402","authenticated-orcid":false,"given":"Adrianna D.","family":"Musia\u0142","sequence":"additional","affiliation":[{"name":"Department of Animal Molecular Biology, National Research Institute of Animal Production, Krakowska 1, 32-083 Balice, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4158-771X","authenticated-orcid":false,"given":"Monika","family":"Stefaniuk-Szmukier","sequence":"additional","affiliation":[{"name":"Department of Animal Molecular Biology, National Research Institute of Animal Production, Krakowska 1, 32-083 Balice, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8555-0495","authenticated-orcid":false,"given":"Katarzyna","family":"Ropka-Molik","sequence":"additional","affiliation":[{"name":"Department of Animal Molecular Biology, National Research Institute of Animal Production, Krakowska 1, 32-083 Balice, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2021,11,26]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1332","DOI":"10.1126\/science.1168594","article-title":"The Earliest Horse Harnessing and Milking","volume":"323","author":"Outram","year":"2009","journal-title":"Science"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"1419","DOI":"10.1016\/j.cell.2019.03.049","article-title":"Tracking Five Millennia of Horse Management with Extensive Ancient Genome Time Series","volume":"177","author":"Fages","year":"2019","journal-title":"Cell"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"1900164","DOI":"10.1002\/bies.201900164","article-title":"Ancient Genomes Reveal Unexpected Horse Domestication and Management Dynamics","volume":"42","author":"Orlando","year":"2019","journal-title":"BioEssays"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"123","DOI":"10.17746\/1563-0110.2016.44.1.123-136","article-title":"The Introduction of the Domesticated Horse in Southwest Asia","volume":"44","author":"Shev","year":"2016","journal-title":"Archaeol. 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Fak\u00fcltesi Derg."}],"container-title":["Genes"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2073-4425\/12\/12\/1893\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T07:36:08Z","timestamp":1760168168000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2073-4425\/12\/12\/1893"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,11,26]]},"references-count":23,"journal-issue":{"issue":"12","published-online":{"date-parts":[[2021,12]]}},"alternative-id":["genes12121893"],"URL":"https:\/\/doi.org\/10.3390\/genes12121893","relation":{},"ISSN":["2073-4425"],"issn-type":[{"value":"2073-4425","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,11,26]]}}}