PMID- 10384882
OWN - NLM
STAT- MEDLINE
DCOM- 19990903
LR  - 20191103
IS  - 0894-1491 (Print)
IS  - 0894-1491 (Linking)
VI  - 26
IP  - 2
DP  - 1999 Apr
TI  - Edg-2 in myelin-forming cells: isoforms, genomic mapping, and exclusion in
      Charcot-Marie-Tooth disease.
PG  - 176-85
AB  - Edg-2 is an heptahelical receptor whose spatio-temporal distribution during rat
      brain development is consistent with a role in the control of myelination. We
      have now identified two splice variants of Edg-2 mRNA in rat brain that encode
      two receptor isoforms differing by a stretch of 18 amino acids in the
      NH2-terminal extracellular tail of the receptor. Prenatally (i.e., before
      oligodendrocyte myelination), the two variants detected by selective in situ
      hybridization are equally abundant, vary in parallel, and remain restricted to
      proliferative zones in the brain. Postnatally, the long isoform becomes
      predominant in myelinating structures, where its abundance increases sharply
      during the period of myelination. In the adult human brain, only the long variant
      was detected, while in situ hybridization showed it selectively expressed in the 
      white matter and in clusters of cells showing features of oligodendrocytes of the
      temporal cerebral cortex. Consequently, the human Edg-2 gene was studied to
      assess its possible contribution in inherited neuropathies. The coding sequence
      was found to be contained in three exons and to map to chromosome 9q31.3-32 by
      using radiation hybrid panel and Yeast-Artificial Chromosomes. Two intragenic
      bi-allelic polymorphisms and a rare mutation were identified. As a first
      application to molecular genetic studies, they were used to exclude the Edg-2
      gene in six families with phenotype of demyelinating Charcot-Marie-Tooth disease 
      of unknown origin.
FAU - Allard, J
AU  - Allard J
AD  - Unite de Neurobiologie et Pharmacologie Moleculaire, Centre Paul Broca, Paris,
      France. allard@broca.inserm.fr
FAU - Barron, S
AU  - Barron S
FAU - Trottier, S
AU  - Trottier S
FAU - Cervera, P
AU  - Cervera P
FAU - Daumas-Duport, C
AU  - Daumas-Duport C
FAU - Leguern, E
AU  - Leguern E
FAU - Brice, A
AU  - Brice A
FAU - Schwartz, J C
AU  - Schwartz JC
FAU - Sokoloff, P
AU  - Sokoloff P
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Glia
JT  - Glia
JID - 8806785
RN  - 0 (Nuclear Proteins)
RN  - 0 (Protein Isoforms)
RN  - 0 (Receptors, Cell Surface)
RN  - 0 (Receptors, G-Protein-Coupled)
RN  - 0 (Receptors, Lysophosphatidic Acid)
RN  - 0 (Transcription Factors)
SB  - IM
MH  - Adult
MH  - Amino Acid Sequence/genetics
MH  - Animals
MH  - Base Sequence/genetics
MH  - Brain/cytology/*metabolism
MH  - Charcot-Marie-Tooth Disease/genetics/metabolism
MH  - Chromosome Mapping
MH  - Cloning, Molecular
MH  - Female
MH  - Genetic Linkage/genetics
MH  - Genome
MH  - Humans
MH  - Molecular Sequence Data
MH  - Myelin Sheath/*physiology
MH  - Neurons/*metabolism
MH  - Nuclear Proteins/genetics/*metabolism
MH  - Pedigree
MH  - Protein Isoforms/genetics/metabolism
MH  - Rats
MH  - *Receptors, Cell Surface
MH  - *Receptors, G-Protein-Coupled
MH  - Receptors, Lysophosphatidic Acid
MH  - Transcription Factors/genetics/*metabolism
EDAT- 1999/06/29 00:00
MHDA- 1999/06/29 00:01
CRDT- 1999/06/29 00:00
PHST- 1999/06/29 00:00 [pubmed]
PHST- 1999/06/29 00:01 [medline]
PHST- 1999/06/29 00:00 [entrez]
AID - 10.1002/(SICI)1098-1136(199904)26:2<176::AID-GLIA8>3.0.CO;2-K [pii]
AID - 10.1002/(sici)1098-1136(199904)26:2<176::aid-glia8>3.0.co;2-k [doi]
PST - ppublish
SO  - Glia. 1999 Apr;26(2):176-85. doi:
      10.1002/(sici)1098-1136(199904)26:2<176::aid-glia8>3.0.co;2-k.