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Identification of a 31-bp deletion in the RELN gene causing lissencephaly with cerebellar hypoplasia in sheep

AuthorsSuárez-Vega, Aroa; Gutiérrez Gil, Beatriz; Cuchillo-Ibáñez, Inmaculada; Sáez-Valero, Javier; Pérez Pérez, Valentín ; Garciá-Gámez, E.; Benavides, Julio ; Arranz, Juan José
Issue Date2013
PublisherPublic Library of Science
CitationPLoS ONE 8(11): e81072 (2013)
AbstractLissencephaly is an inherited developmental disorder in which neuronal migration is impaired. A type of lissencephaly associated with cerebellar hypoplasia (LCH) was diagnosed in a commercial flock of Spanish Churra sheep. The genotyping of 7 affected animals and 33 controls with the OvineSNP50 BeadChip enabled the localization of the causative mutation for ovine LCH to a 4.8-Mb interval on sheep chromosome 4 using genome-wide association and homozygosity mapping. The RELN gene, which is located within this interval, was considered a strong positional and functional candidate because it plays critical roles in neuronal migration and layer formation. By performing a sequencing analysis of this gene's specific mRNA in a control lamb, we obtained the complete CDS of the ovine RELN gene. The cDNA sequence from an LCH-affected lamb revealed a deletion of 31 bp (c.5410-5440del) in predicted exon 36 of RELN, resulting in a premature termination codon. A functional analysis of this mutation revealed decreased levels of RELN mRNA and a lack of reelin protein in the brain cortex and blood of affected lambs. This mutation showed a complete concordance with the Mendelian recessive pattern of inheritance observed for the disease. The identification of the causal mutation of LCH in Churra sheep will facilitate the implementation of gene-assisted selection to detect heterozygous mutants, which will help breeders avoid at-risk matings in their flocks. Moreover, the identification of this naturally occurring RELN mutation provides an opportunity to use Churra sheep as a genetically characterized large animal model for the study of reelin functions in the developing and mature brain. © 2013 Suarez-Vega et al.
Description12 páginas, 5 figuras, 1 tabla.
Publisher version (URL)http://dx.doi.org/10.1371/journal.pone.0081072
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