Polymorphism analysis of JRK/JH8, the human homologue of mouse jerky, and description of a rare mutation in a case of CAE evolving to JME

Disruption of the function of the mouse jerky gene by transgene insertion causes generalized recurrent seizures reminiscent of human idiopathic generalized epilepsy (IGE). A human homologue, JRK/JH8, has been cloned, which maps to 8q24, a chromosomal region associated with several forms of IGE. JRK/...

Full description

Saved in:

Bibliographic Details
Published in:	Epilepsy research Vol. 46; no. 2; pp. 157 - 167
Main Authors:	Moore, Tom, Hecquet, Stéphane, McLellann, Andrew, Ville, Dorothée, Grid, Djamel, Picard, Fabienne, Moulard, Bruno, Asherson, Philip, Makoff, Andrew J, McCormick, David, Nashef, Lina, Froguel, Philippe, Arzimanoglou, Alexis, LeGuern, Eric, Bailleul, Bernard
Format:	Journal Article
Language:	English
Published:	Amsterdam Elsevier B.V 01-08-2001 Elsevier
Subjects:	Alleles Amino Acid Sequence Amino Acid Sequence - genetics Base Sequence Base Sequence - genetics Biological and medical sciences Centromere Disease Progression DNA-Binding Proteins DNA-Binding Proteins - genetics Epilepsy, Absence Epilepsy, Absence - genetics Gene Frequency Genetics Genotype Glycosylation Headache. Facial pains. Syncopes. Epilepsia. Intracranial hypertension. Brain oedema. Cerebral palsy Human genetics Humans Idiopathic epilepsy Jerky Life Sciences Medical sciences Molecular Sequence Data Mutation Mutation - genetics Myoclonic Epilepsy, Juvenile Myoclonic Epilepsy, Juvenile - genetics Nerve Tissue Proteins Nerve Tissue Proteins - genetics Nervous system (semeiology, syndromes) Neurology Nuclear Proteins Open Reading Frames Open Reading Frames - genetics Pedigree Polymorphism Polymorphism, Genetic Proteins Proteins - genetics Reference Values RNA-Binding Proteins Glycosylation Centromere Jerky Idiopathic epilepsy Polymorphism Human Nervous system diseases Myoclonus Pathogenesis Epilepsy Petit mal Juvenile character Genetic determinism Cerebral disorder Case study Gene Central nervous system disease Evolution Mutation Locus Haplotype Juvenile Amino Acid Sequence Gene Frequency Humans Open Reading Frames Molecular Sequence Data Genetic Absence Genotype Reference Values Nerve Tissue Proteins Disease Progression Myoclonic Epilepsy Nuclear Proteins Proteins Pedigree Base Sequence Alleles DNA-Binding Proteins
Online Access:	Get full text
Tags:	Add Tag No Tags, Be the first to tag this record!

Description
Summary:	Disruption of the function of the mouse jerky gene by transgene insertion causes generalized recurrent seizures reminiscent of human idiopathic generalized epilepsy (IGE). A human homologue, JRK/JH8, has been cloned, which maps to 8q24, a chromosomal region associated with several forms of IGE. JRK/JH8 is, therefore, a candidate locus for at least some forms of IGE. We report corrected cDNA sequences and extended open reading frames for the mouse jerky and human JRK/JH8 genes, which add 48 amino acids to the N-terminus of the Jerky protein and which extends the region of homology with the N-terminal DNA-binding domain of the centromere-binding protein, CENP-B. Systematic sequencing of the coding region of the extended JRK/JH8 gene identified single nucleotide polymorphisms that define three haplotypes, which were used for association studies in patients with idiopathic generalized epilepsy. We report one subject with childhood absence epilepsy (CAE) that evolved to juvenile myoclonic epilepsy (JME) that has a unique de novo mutation that results in a non-conservative amino acid change at a potential protein glycosylation site. Familial analysis supports a causal role for this mutation in the disease.
Bibliography:	ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23
ISSN:	0920-1211 1872-6844
DOI:	10.1016/S0920-1211(01)00275-3