Investigation of Cerebellar Abiotrophy (CA), Lavender Foal Syndrome (LFS), and Severe Combined Immunodeficiency (SCID) Variants in a Cohort of Three MENA Region Horse Breeds.
Abstract: 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-artificially 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.
Publication Date: 2021-11-26 PubMed ID: 34946842PubMed Central: PMC8701198DOI: 10.3390/genes12121893Google Scholar: Lookup
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- Journal Article
- Research Support
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Summary
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This study investigates genetic disorders such as Cerebellar Abiotrophy (CA), Lavender Foal Syndrome (LFS), and Severe Combined Immunodeficiency (SCID) in Arabian, Barb, and Arab-Barb horse breeds from the Middle East and North Africa. It finds some horses carry the genetic variations for CA and SCID, but none for LFS, highlighting the importance of testing these breeds for preventing the spread of harmful genetic disorders.
Introduction to the Research
- The research focuses on examining common genetic disorders that affect horse breeds in the Middle East and North Africa (MENA) region.
- The study uses two scientific methods to conduct the research: ‘Sanger Sequencing’ and ‘Polymerase Chain Reaction-Artificially Created Restriction Site’ (PCR-ACRS).
- The primary genetic disorders investigated in this study are Cerebellar Abiotrophy (CA), Lavender Foal Syndrome (LFS), and Severe Combined Immunodeficiency (SCID).
Findings of the Study
- The research identified genetic variations related to CA and SCID disorders but found no mutant alleles associated with LFS.
- A total of 15 horses were discovered to carry two genetic disorders (CA and SCID).
- Specifically, five Arabian horses were heterozygous for the SNP associated with CA (rs397160943 request).
- The SCID-related deletion TCTCA inside the ‘Protein Kinase DNA-Activated Catalytic Subunit’ (PRKDC) gene was found in ten horses (nine Arabian and one Arab-Barb).
Significance of the Study
- This research emphasizes the dominancy and prevalence of harmful genetic disorders within certain horse breeds originating from the MENA region.
- The study underscores the importance of conducting genetic disorder testing to identify carrier horses and avoid the further transmission of deleterious variants within these breeds.
- The findings can help breeders and horse owners make informed decisions to reduce the economic loss caused by fatal or crippling genetic disorders.
- This study contributes valuable information to the field of equine genetics and can influence future research and breeding programmes to improve the health of these horse breeds.
Cite This Article
APA
Ayad A, Almarzook S, Besseboua O, Aissanou S, Piórkowska K, Musiał AD, Stefaniuk-Szmukier M, Ropka-Molik K.
(2021).
Investigation of Cerebellar Abiotrophy (CA), Lavender Foal Syndrome (LFS), and Severe Combined Immunodeficiency (SCID) Variants in a Cohort of Three MENA Region Horse Breeds.
Genes (Basel), 12(12).
https://doi.org/10.3390/genes12121893 Publication
Researcher Affiliations
- Department of Environment and Biological Sciences, Faculty of Nature and Life Sciences, University of Bejaia, Bejaia 06000, Algeria.
- Faculty of Applied Sciences, University of Applied Sciences Europe, 10963 Berlin, Germany.
- Department of Agronomic and Biotechnological Sciences, Faculty of Nature and Life Sciences, University H. Benbouali, Chlef 02000, Algeria.
- Department of Environment and Biological Sciences, Faculty of Nature and Life Sciences, University of Bejaia, Bejaia 06000, Algeria.
- Department of Animal Molecular Biology, National Research Institute of Animal Production, Krakowska 1, 32-083 Balice, Poland.
- Department of Animal Molecular Biology, National Research Institute of Animal Production, Krakowska 1, 32-083 Balice, Poland.
- Department of Animal Molecular Biology, National Research Institute of Animal Production, Krakowska 1, 32-083 Balice, Poland.
- Department of Animal Molecular Biology, National Research Institute of Animal Production, Krakowska 1, 32-083 Balice, Poland.
MeSH Terms
- Africa, Northern
- Alleles
- Animals
- Cerebellar Diseases / genetics
- Cohort Studies
- Heterozygote
- Horse Diseases / genetics
- Horses / genetics
- Middle East
- Polymorphism, Single Nucleotide / genetics
- Severe Combined Immunodeficiency / genetics
Conflict of Interest Statement
The authors declare no conflict of interest.
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Citations
This article has been cited 2 times.- Jafari H, Abebe BK, Cong L, Ahmed Z, Zhaofei W, Sun M, Muhatai G, Chuzhao L, Dang R. Review: Genomic insights into the adaptive traits and stress resistance in modern horses. Stress Biol 2026 Jan 12;6(1):5.
- Sievers J, Distl O. Genomic Patterns of Homozygosity and Genetic Diversity in the Rhenish German Draught Horse. Genes (Basel) 2025 Mar 11;16(3).
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