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BMC Physiology

, 14:11

Physiological genomics


BackgroundMultiple cell types including trophoblasts, osteoclasts and myoblasts require somatic cell fusion events as part of their physiological functions. In Drosophila Melanogaster the paralogus type 1 transmembrane receptors and members of the immunoglobulin superfamily Kin of Irre Kirre and roughest Rst regulate myoblast fusion during embryonic development. Present within the human genome are three homologs to Kirre termed Kin of Irre like Kirrel 1, 2 and 3. Currently it is unknown if Kirrel3 is expressed in adult human skeletal muscle.

ResultsWe investigated using PCR and Western blot Kirrel3 in adult human skeletal muscle samples taken at rest and after mild exercise induced muscle damage. Kirrel3 mRNA expression was verified by sequencing and protein presence via blotting with 2 different anti-Kirrel3 protein antibodies. Evidence for three alternatively spliced Kirrel3 mRNA transcripts in adult human skeletal muscle was obtained. Kirrel3 mRNA in adult human skeletal muscle was detected at low or moderate levels, or not at all. This sporadic expression suggests that Kirrel3 is expressed in a pulsatile manner. Several anti Kirrel3 immunoreactive proteins were detected in all adult human skeletal muscle samples analysed and results suggest the presence of different isoforms or posttranslational modification, or both.

ConclusionThe results presented here demonstrate for the first time that there are at least 3 splice variants of Kirrel3 expressed in adult human skeletal muscle, two of which have never previously been identified in human muscle. Importantly, mRNA of all splice variants was not always present, a finding with potential physiological relevance. These initial discoveries highlight the need for more molecular and functional studies to understand the role of Kirrel3 in human skeletal muscle.

KeywordsKirrel3 Human Myogenesis Biopsy Drosophila AbbreviationsKirreKin of irregular Chiasm


KirrelKin of irregular chiasm like



NCBINational center for biotechnology

AAAmino acids

PDZPost Synaptic density protein 95, Drosophila discs Large tumour suppressor, zonula occludens

Electronic supplementary materialThe online version of this article doi:10.1186-s12899-014-0011-3 contains supplementary material, which is available to authorized users.

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Autor: Peter Joseph Durcan - Johannes D Conradie - Mari Van deVyver - Kathryn Helen Myburgh


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