A large intragenic deletion in the CLCN1 gene causes Hereditary Myotonia in pigs

Autor(es)

Araujo, C. E. T. ^[1] ; Oliveira, C. M. C. ^[2] ; Barbosa, J. D. ^[2] ; Oliveira-Filho, J. P. ^[1] ; Resende, L. A. L. ^[3] ; Badial, P. R. ^[4] ; Araujo-Junior, J. P. ^[5] ; Mccue, M. E. ^[6] ; Borges, A. S. ^[1]

Afiliação do(s) autor(es)

^[1] Sao Paulo State Univ UNESP, Sch Vet Med & Anim Sci, Botucatu, SP - Brazil

^[2] Univ Fed Para, Inst Med Vet, Campus Castanhal, Castanhal, PA - Brazil

^[3] Sao Paulo State Univ UNESP, Med Sch, Botucatu, SP - Brazil

^[4] Mississippi State Univ, Dept Pathobiol & Populat Med, Coll Vet Med, Starkville, MS - USA

^[5] Sao Paulo State Univ UNESP, Inst Biosci, Botucatu, SP - Brazil

^[6] Univ Minnesota, Coll Vet Med, St Paul, MN 55108 - USA

• Tipo de documento: Artigo Científico
• Fonte: SCIENTIFIC REPORTS; v. 9, OCT 30 2019.
• Citações Web of Science: 0

Resumo

Mutations in the CLCN1 gene are the primary cause of non-dystrophic Hereditary Myotonia in several animal species. However, there are no reports of Hereditary Myotonia in pigs to date. Therefore, the objective of the present study was to characterize the clinical and molecular findings of Hereditary Myotonia in an inbred pedigree. The clinical, electromyographic, histopathological, and molecular findings were evaluated. Clinically affected pigs presented non-dystrophic recessive Hereditary Myotonia. Nucleotide sequence analysis of the entire coding region of the CLCN1 gene revealed the absence of the exons 15 and 16 in myotonic animals. Analysis of the genomic region flanking the deletion unveiled a large intragenic deletion of 4,165 nucleotides. Interestingly, non-related, non-myotonic pigs expressed transcriptional levels of an alternate transcript (i.e., X2) that was identical to the deleted X1 transcript of myotonic pigs. All myotonic pigs and their progenitors were homozygous recessive and heterozygous, respectively, for the 4,165-nucleotide deletion. This is the first study reporting Hereditary Myotonia in pigs and characterizing its clinical and molecular findings. Moreover, to the best of our knowledge, Hereditary Myotonia has never been associated with a genomic deletion in the CLCN1 gene in any other species. (AU)

• Processo FAPESP: 16/06281-0 - Estudo clínico e molecular de miotonia hereditária em suínos
• Beneficiário: Alexandre Secorun Borges
• Modalidade de apoio: Auxílio à Pesquisa - Regular