Axonemal protofilament ribbons, DM10 domains, and the link to juvenile myoclonic epilepsy.
Juvenile myoclonic epilepsy (JME) is a common neurological disorder that results in short uncontrolled muscle contractions and sometimes more severe seizures. Genetic studies have suggested that JME may be caused by mutations in EFHC1. The Efhc1 protein consists of three DM10 domains and a C-terminal region containing a potential Ca2+ -binding motif. In Chlamydomonas, a protein (Rib72) of almost identical domain structure is a component of the protofilament ribbons within the doublet microtubules of the flagellar axoneme. Here I discuss recent work that supports assignment of human Efhc1 as a ciliary component and the resulting implications for the mechanism of disease causation.
Department of Molecular, Microbial and Structural Biology, University of Connecticut Health Center, Farmington, Connecticut, USA. steve@king2.uchc.edu
Stephen M
SM
King
D000293:Adolescent; D000595:Amino Acid Sequence; D000818:Animals; D002135:Calcium-Binding Proteins / Q000032:analysis / Q000737:chemistry* / Q000235:genetics*; D002696:Chlamydomonas; D002923:Cilia / Q000737:chemistry* / Q000235:genetics; D005407:Flagella / Q000737:chemistry / Q000235:genetics; D006801:Humans; D008870:Microtubules / Q000737:chemistry / Q000235:genetics; D008969:Molecular Sequence Data; D020190:Myoclonic Epilepsy, Juvenile / Q000235:genetics*; D017434:Protein Structure, Tertiary; D015800:Protozoan Proteins / Q000032:analysis / Q000737:chemistry / Q000235:genetics
D002135:Calcium-Binding Proteins; C489648:EFHC1 protein, human; D015800:Protozoan Proteins