PMID- 10369162
OWN - NLM
STAT- MEDLINE
DCOM- 19990625
LR  - 20190722
IS  - 0340-6717 (Print)
IS  - 0340-6717 (Linking)
VI  - 104
IP  - 4
DP  - 1999 Apr
TI  - The human neuregulin-2 (NRG2) gene: cloning, mapping and evaluation as a
      candidate for the autosomal recessive form of Charcot-Marie-Tooth disease linked 
      to 5q.
PG  - 326-32
AB  - Neuregulin-2 (NRG2) is a novel member of the neuregulin family of growth and
      differentiation factors. Through interaction with the ErbB family of receptors,
      neuregulin-2 induces the growth and differentiation of epithelial, neuronal,
      glial and other types of cells. In this study, we have cloned the human
      neuregulin-2 gene, and determined its genomic structure and alternative splicing 
      patterns. By using radiation hybrid mapping panels, the human NRG2 gene was
      mapped to the D5S658-D5S402 region within 5q23-q33, close to an autosomal
      recessive form of demyelinating Charcot-Marie-Tooth (CMT) disease. The NRG2 gene 
      was found to be on two yeast artificial chromosomes overlapping the candidate
      interval and was, thus, considered a good positional candidate for this form of
      CMT. When the entire neuregulin-2 coding sequence and splice junctions were
      explored, however, no mutation was identified in one CMT family linked to
      5q23-q33. In addition, three intronic single nucleotide polymorphisms were
      identified in the NRG2 gene. Genotyping in two families localized the NRG2 gene
      outside of the revised candidate interval between D5S402-D5S210 and excluded NRG2
      as the gene responsible for this form of CMT disease.
FAU - Ring, H Z
AU  - Ring HZ
AD  - Department of Genetics, Stanford University School of Medicine, CA 94305, USA.
FAU - Chang, H
AU  - Chang H
FAU - Guilbot, A
AU  - Guilbot A
FAU - Brice, A
AU  - Brice A
FAU - LeGuern, E
AU  - LeGuern E
FAU - Francke, U
AU  - Francke U
LA  - eng
GR  - HG00298/HG/NHGRI NIH HHS/United States
GR  - NS10447/NS/NINDS NIH HHS/United States
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - Germany
TA  - Hum Genet
JT  - Human genetics
JID - 7613873
RN  - 0 (Genetic Markers)
RN  - 0 (Ligands)
RN  - 0 (NRG2 protein, human)
RN  - 0 (Nerve Growth Factors)
SB  - IM
MH  - Adult
MH  - Alternative Splicing
MH  - Amino Acid Sequence
MH  - Base Sequence
MH  - Charcot-Marie-Tooth Disease/*genetics
MH  - Chromosome Mapping
MH  - Chromosomes, Artificial, Yeast
MH  - *Chromosomes, Human, Pair 5
MH  - Exons
MH  - Female
MH  - Gene Library
MH  - Genes, Recessive
MH  - Genetic Linkage
MH  - Genetic Markers
MH  - Humans
MH  - Introns
MH  - Ligands
MH  - Lung/metabolism
MH  - Male
MH  - Molecular Sequence Data
MH  - Nerve Growth Factors/*genetics
MH  - Pedigree
MH  - Polymerase Chain Reaction
EDAT- 1999/06/16 00:00
MHDA- 1999/06/16 00:01
CRDT- 1999/06/16 00:00
PHST- 1999/06/16 00:00 [pubmed]
PHST- 1999/06/16 00:01 [medline]
PHST- 1999/06/16 00:00 [entrez]
AID - 10.1007/s004390050961 [doi]
PST - ppublish
SO  - Hum Genet. 1999 Apr;104(4):326-32. doi: 10.1007/s004390050961.