The LGI1 gene involved in lateral temporal lobe epilepsy belongs to a new subfamily of leucine-rich repeat proteins

FEBS Lett. 2002 May 22;519(1-3):71-6. doi: 10.1016/s0014-5793(02)02713-8.

Abstract

Recently mutations in the LGI1 (leucine-rich, glioma-inactivated 1) gene have been found in human temporal lobe epilepsy. We have now identified three formerly unknown LGI-like genes. Hydropathy plots and pattern analysis showed that LGI genes encode proteins with large extra- and intracellular domains connected by a single transmembrane region. Sequence analysis demonstrated that LGI1, LGI2, LGI3, and LGI4 form a distinct subfamily when compared to other leucine-rich repeat-containing proteins. In silico mapping and radiation hybrid experiments assigned LGI2, LGI3, and LGI4 to different chromosomal regions (4p15.2, 8p21.3, 19q13.11), some of which have been implicated in epileptogenesis and/or tumorigenesis.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Chromosomes, Human, Pair 10 / genetics
  • Chromosomes, Human, Pair 19 / genetics
  • Chromosomes, Human, Pair 4 / genetics
  • Chromosomes, Human, Pair 8 / genetics
  • Cloning, Molecular
  • Epilepsy, Temporal Lobe / genetics*
  • Female
  • Frontal Lobe / cytology
  • Frontal Lobe / metabolism
  • Humans
  • Intracellular Signaling Peptides and Proteins
  • Leucine / genetics*
  • Male
  • Middle Aged
  • Molecular Sequence Data
  • Multigene Family
  • Nerve Tissue Proteins
  • Organ Specificity
  • Phylogeny
  • Protein Biosynthesis
  • Proteins / genetics*
  • Proteins / metabolism
  • RNA, Messenger / biosynthesis
  • Radiation Hybrid Mapping
  • Repetitive Sequences, Amino Acid / genetics*
  • Sequence Homology, Amino Acid
  • Temporal Lobe / cytology
  • Temporal Lobe / metabolism

Substances

  • Intracellular Signaling Peptides and Proteins
  • LGI1 protein, human
  • LGI2 protein, human
  • LGI3 protein, human
  • Nerve Tissue Proteins
  • Proteins
  • RNA, Messenger
  • Leucine