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

Registro completo de metadados
MetadadosDescriçãoIdioma
Autor(es): dc.contributorUniversidade Estadual Paulista (Unesp)-
Autor(es): dc.contributorUniversidade Federal do Pará (UFPA)-
Autor(es): dc.contributorMississippi State University-
Autor(es): dc.contributorUniversity of Minnesota-
Autor(es): dc.creatorAraújo, C. E.T. [UNESP]-
Autor(es): dc.creatorOliveira, C. M.C.-
Autor(es): dc.creatorBarbosa, J. D.-
Autor(es): dc.creatorOliveira-Filho, J. P. [UNESP]-
Autor(es): dc.creatorResende, L. A.L. [UNESP]-
Autor(es): dc.creatorBadial, P. R.-
Autor(es): dc.creatorAraujo-Junior, J. P. [UNESP]-
Autor(es): dc.creatorMcCue, M. E.-
Autor(es): dc.creatorBorges, A. S. [UNESP]-
Data de aceite: dc.date.accessioned2022-02-22T00:23:27Z-
Data de disponibilização: dc.date.available2022-02-22T00:23:27Z-
Data de envio: dc.date.issued2020-12-11-
Data de envio: dc.date.issued2020-12-11-
Data de envio: dc.date.issued2019-11-30-
Fonte completa do material: dc.identifierhttp://dx.doi.org/10.1038/s41598-019-51286-7-
Fonte completa do material: dc.identifierhttp://hdl.handle.net/11449/198071-
Fonte: dc.identifier.urihttp://educapes.capes.gov.br/handle/11449/198071-
Descrição: dc.descriptionMutations 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.-
Descrição: dc.descriptionSão Paulo State University (UNESP) School of Veterinary Medicine and Animal Science-
Descrição: dc.descriptionInstituto de Medicina Veterinária Universidade Federal do Pará-
Descrição: dc.descriptionSão Paulo State University (UNESP) Medical School-
Descrição: dc.descriptionDepartment of Pathobiology and Population Medicine College of Veterinary Medicine Mississippi State University-
Descrição: dc.descriptionSão Paulo State University (UNESP) Institute of Bioscience-
Descrição: dc.descriptionCollege of Veterinary Medicine University of Minnesota-
Descrição: dc.descriptionSão Paulo State University (UNESP) School of Veterinary Medicine and Animal Science-
Descrição: dc.descriptionSão Paulo State University (UNESP) Medical School-
Descrição: dc.descriptionSão Paulo State University (UNESP) Institute of Bioscience-
Idioma: dc.languageen-
Relação: dc.relationScientific Reports-
???dc.source???: dc.sourceScopus-
Título: dc.titleA large intragenic deletion in the CLCN1 gene causes Hereditary Myotonia in pigs-
Tipo de arquivo: dc.typelivro digital-
Aparece nas coleções:Repositório Institucional - Unesp

Não existem arquivos associados a este item.