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Artículo

Prkg2 splice site variant in dogo argentino dogs with disproportionate dwarfism

Rudd Garces, GabrielaIcon ; Turba, Maria Elena; Muracchini, Myriam; Diana, Alessia; Jagannathan, Vidhya; Gentilini, Fabio; Leeb, Tosso
Fecha de publicación: 10/2021
Editorial: MDPI
Revista: Genes
ISSN: 2073-4425
Idioma: Inglés
Tipo de recurso: Artículo publicado
Clasificación temática:
Ciencias Veterinarias

Resumen

Dwarfism phenotypes occur in many species and may be caused by genetic or environmental factors. In this study, we investigated a family of nine Dogo Argentino dogs, in which two dogs were affected by disproportionate dwarfism. Radiographs of an affected dog revealed a decreased level of endochondral ossification in its growth plates, and a premature closure of the distal ulnar physes. The pedigree of the dogs presented evidence of monogenic autosomal recessive inheritance; combined linkage and homozygosity mapping assigned the most likely position of a potential genetic defect to 34 genome segments, totaling 125 Mb. The genome of an affected dog was sequenced and compared to 795 control genomes. The prioritization of private variants revealed a clear top candidate variant for the observed dwarfism. This variant, PRKG2:XM_022413533.1:c.1634+1G>T, affects the splice donor site and is therefore predicted to disrupt the function of the PKRG2 gene encoding protein, kinase cGMP-dependent type 2, a known regulator of chondrocyte differentiation. The genotypes of the PRKG2 variant were perfectly associated with the phenotype in the studied family of dogs. PRKG2 loss-of-function variants were previously reported to cause disproportionate dwarfism in humans, cattle, mice, and rats. Together with the comparative data from other species, our data strongly suggest PRKG2:c.1634+1G>T to be a candidate causative variant for the observed dwarfism phenotype in Dogo Argentino dogs.
Palabras clave: BONE , CANIS LUPUS FAMILIARIS , DEVELOPMENT , GROWTH , HOMOZYGOSITY MAPPING , LINKAGE ANALYSIS , WHOLE GENOME SEQUENCING
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info:eu-repo/semantics/openAccess Excepto donde se diga explícitamente, este item se publica bajo la siguiente descripción: Creative Commons Attribution 2.5 Unported (CC BY 2.5)
Identificadores
URI: http://hdl.handle.net/11336/211999
DOI: http://dx.doi.org/10.3390/genes12101489
Colecciones
Articulos(IGEVET)
Articulos de INST.DE GENETICA VET ING FERNANDO NOEL DULOUT
Citación
Rudd Garces, Gabriela; Turba, Maria Elena; Muracchini, Myriam; Diana, Alessia; Jagannathan, Vidhya; et al.; Prkg2 splice site variant in dogo argentino dogs with disproportionate dwarfism; MDPI; Genes; 12; 10; 10-2021; 1-11
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