RT Journal Article
T1 Syringohydromyelia in Dogs: The Genomic Component Underlying a Complex Neurological Disease
A1 Andrino García, Sandra
A1 Lorenzo, Valentina
A1 Dunner Boxberger, Helene Susana
A1 Contreras Alcaide, Elisabeth
A1 Cañón Ferreras, Javier
A1 Sevane Fernández, Natalia
AB Syringohydromyelia (SHM) is a neurological disorder characterized by the appearance of fluid-containing cavities within the spinal cord. Although SHM is thought to be under multigenic control, the molecular basis of this disease remains poorly defined. A genome-wide association study (GWAS) was carried out comparing the whole genome sequences (WGS) from 12 dogs with SHM and 2 panels of 26 dogs (either older than 5 years and showing the absence of SHM or belonging to breeds not susceptible to SHM) to identify candidate genes associated with the development of SHM. Seven candidate genes were identified. Of these, five genes were determined to be involved in bone development (PLXNA2, HHAT, MBOAT2, ITGAV) and calcium homeostasis (HPCAL1). Although further validation is needed at the transcript level, it is worth highlighting the association of a possible pathogenic variant which generated a new intronic branch-site sequence in PLXNA2 (T/C, CFA7:7043294). Considering previous studies in dogs that show SHM related to craniocervical junction (CCJ) malformations, these genes can be considered good candidates for the development of this disease. This report dissects the genomic component of SHM in dogs, which paves the way for further research on this complex disease found both in canine and human species.
PB MPDI
SN 2076-2615
YR 2022
FD 2022-09-29
LK https://hdl.handle.net/20.500.14352/73208
UL https://hdl.handle.net/20.500.14352/73208
LA eng
NO Doctorados Industriales de la Comunidad de Madrid
DS Docta Complutense
RD 7 may 2024