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

ABSTRACT: Lissencephaly 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 c

SUBMITTER: Suarez-Vega A 

PROVIDER: S-EPMC3834269 | biostudies-literature | 2013

REPOSITORIES: biostudies-literature