PMID- 10462698
OWN - NLM
STAT- MEDLINE
DCOM- 19991015
LR  - 20041117
IS  - 0360-4012 (Print)
IS  - 0360-4012 (Linking)
VI  - 57
IP  - 5
DP  - 1999 Sep 1
TI  - Structure, chromosomal localization, and brain expression of human Cx36 gene.
PG  - 740-52
AB  - Rat connexin-36 (Cx36) is the first gap junction protein shown to be expressed
      predominantly in neuronal cells of the mammalian central nervous system. As a
      prerequisite for studies devoted to the investigation of the possible role of
      this connexin in human neurological diseases, we report the cloning and
      sequencing of the human Cx36 gene, its chromosomal localization, and its pattern 
      of expression in the human brain analyzed by radioactive in situ hybridization.
      The determination of the human gene sequence revealed that the coding sequence of
      Cx36 is highly conserved (98% identity at the protein level with the mouse and
      rat Cx36 and 80% with the ortholog perch and skate Cx35), and that the gene
      structure is that typical of the Cx35/36 subgroup observed in the other species
      (presence of a single intron located within the coding region, 71 bp after the
      translation initiation site). The distribution of Cx36 in several regions of the 
      human central nervous system is similar to that previously observed in rat brain.
      The most intense signal among the cerebral areas examined by in situ
      hybridization was observed in the inferior olivary complex, both in principal and
      accessory nuclei. A moderate labeling was also observed in several myelencephalic
      nuclei, in specific cells of the the cerebellar cortex, in a relatively large
      subpopulation of cells in the cerebral cortex, in the hilus of the dentate gyrus,
      and in the strata radiatum and oriens of hippocampal subfields. Moreover, labeled
      cells were revealed in all the lamina of the spinal cord gray matter. The
      chromosomal localization of the human Cx36 gene was determined by fluorescence in
      situ hybridization. The results allowed assignment of the gene to band 15q14,
      thus making it a possible candidate gene for a form of familial epilepsy
      previously linked to the same chromosomal band. The knowledge of the human Cx36
      gene sequence, of its chromosomal localization, and of its pattern of expression 
      opens new avenues for the analysis of its possible involvement in human genetic
      and acquired neuropathology.
CI  - Copyright 1999 Wiley-Liss, Inc.
FAU - Belluardo, N
AU  - Belluardo N
AD  - Institute of Human Physiology, University of Palermo, Italy.
FAU - Trovato-Salinaro, A
AU  - Trovato-Salinaro A
FAU - Mudo, G
AU  - Mudo G
FAU - Hurd, Y L
AU  - Hurd YL
FAU - Condorelli, D F
AU  - Condorelli DF
LA  - eng
SI  - GENBANK/AF153047
PT  - Journal Article
PL  - United States
TA  - J Neurosci Res
JT  - Journal of neuroscience research
JID - 7600111
RN  - 0 (Connexins)
RN  - 0 (Eye Proteins)
RN  - 0 (connexin 36)
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Amino Acid Sequence
MH  - Animals
MH  - Brain/*metabolism
MH  - Chromosome Mapping
MH  - *Chromosomes, Human, Pair 15
MH  - Cloning, Molecular
MH  - Connexins/analysis/*genetics/metabolism
MH  - Eye Proteins/analysis/*genetics/metabolism
MH  - Female
MH  - Genomic Library
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Introns
MH  - Male
MH  - Mice
MH  - Middle Aged
MH  - Molecular Sequence Data
MH  - Organ Specificity
MH  - Peptide Chain Initiation, Translational
MH  - Perches
MH  - Polymerase Chain Reaction
MH  - Rats
MH  - Sequence Alignment
MH  - Sequence Homology, Amino Acid
MH  - Skates (Fish)
MH  - Spinal Cord/metabolism
EDAT- 1999/08/27 00:00
MHDA- 1999/08/27 00:01
CRDT- 1999/08/27 00:00
PHST- 1999/08/27 00:00 [pubmed]
PHST- 1999/08/27 00:01 [medline]
PHST- 1999/08/27 00:00 [entrez]
AID - 10.1002/(SICI)1097-4547(19990901)57:5<740::AID-JNR16>3.0.CO;2-Z [pii]
PST - ppublish
SO  - J Neurosci Res. 1999 Sep 1;57(5):740-52.