CG6199LH2a lethal allele from Drosophila melanogaster is a candidate model for investigations on Ehlers-Danlos syndrome
Keywords:
Ehlers-Danlos syndrome, Drosophila melanogaster, PLOD1, CG6199, transposon mutagenesisAbstract
CG6199 gene from Drosophila melanogaster is a structural orthologous of PLOD1 human gene, which encodes for a lysyl hydroxylase and is involved in Ehlers–Danlos syndrome type VI (the ocular type). In order to determine phenotypic consequences of CG6199 impairing, loss-of-function analysis was initiated and CG6199LH2a embryo lethal allele was obtained by P element mutagenesis. This allele harbors an P{EP} transposon insertion into the 9th exon of CG6199, encoding for an amino acid sequence belonging to the P4Hc functional domain of lysyl hydroxylase. Phenotypic and molecular analysis of CG6199LH2a allele points that P4Hc is essential for the normal embryo development of D. melanogaster.
Our data support a functional orthology between CG6199 and PLOD1 genes, creating premises for the study of Ehlers-Danlos syndrome using D. melanogaster experimental model.
