PMID- 10521655
OWN - NLM
STAT- MEDLINE
DCOM- 19991108
LR  - 20190707
IS  - 0378-1119 (Print)
IS  - 0378-1119 (Linking)
VI  - 237
IP  - 2
DP  - 1999 Sep 17
TI  - PAX3 gene structure, alternative splicing and evolution.
PG  - 311-9
AB  - PAX3 is a member of the paired box family of transcription factors that function 
      during embryogenesis and cancer epigenesis. Mutations in PAX3 cause Waardenburg
      syndrome (types 1 and 3), Craniofacial-deafness-hand syndrome and alveolar
      rhabdomyosarcoma in humans and the Splotch phenotype in mice. In this study, we
      describe the genomic structure of PAX3, including novel coding sequences and the 
      complete 3' UTR. Alternative transcripts of PAX3 were identified in various
      tissues, including human adult skeletal muscle and mouse embryos. One of the
      novel alternative transcripts is evolutionarily conserved in quail and can
      transactivate a reporter construct containing the mouse c-met promoter. The
      sequences and alternative transcripts reported herein extend our understanding of
      the function and evolution of PAX3 in vertebrates and enable a comprehensive
      mutation screen for individuals with Waardenburg syndrome.
FAU - Barber, T D
AU  - Barber TD
AD  - National Institute on Deafness and Other Communication Disorders, National
      Institutes of Health, 5 Research Court, Rockville, MD 20850, USA.
FAU - Barber, M C
AU  - Barber MC
FAU - Cloutier, T E
AU  - Cloutier TE
FAU - Friedman, T B
AU  - Friedman TB
LA  - eng
SI  - GENBANK/AF154002
SI  - GENBANK/AF156931
GR  - Z01 DC 00035/DC/NIDCD NIH HHS/United States
GR  - Z01 DC 00038/DC/NIDCD NIH HHS/United States
PT  - Journal Article
PT  - Research Support, U.S. Gov't, Non-P.H.S.
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - Netherlands
TA  - Gene
JT  - Gene
JID - 7706761
RN  - 0 (DNA-Binding Proteins)
RN  - 0 (Oligonucleotides)
RN  - 0 (PAX3 Transcription Factor)
RN  - 0 (PAX3 protein, human)
RN  - 0 (Paired Box Transcription Factors)
RN  - 0 (Protein Isoforms)
RN  - 0 (Recombinant Fusion Proteins)
RN  - 0 (Transcription Factors)
RN  - 138016-91-8 (Pax3 protein, mouse)
RN  - 9007-49-2 (DNA)
RN  - EC 2.7.10.1 (Proto-Oncogene Proteins c-met)
SB  - IM
MH  - Adult
MH  - *Alternative Splicing
MH  - Amino Acid Sequence
MH  - Animals
MH  - Base Sequence
MH  - Binding Sites
MH  - Chromosomes, Bacterial/genetics
MH  - Cloning, Molecular
MH  - Conserved Sequence
MH  - DNA/chemistry/genetics
MH  - DNA-Binding Proteins/*genetics
MH  - Databases, Factual
MH  - *Evolution, Molecular
MH  - Expressed Sequence Tags
MH  - Genes/*genetics
MH  - Humans
MH  - Mice
MH  - Mice, Inbred C57BL
MH  - Molecular Sequence Data
MH  - Oligonucleotides/metabolism
MH  - PAX3 Transcription Factor
MH  - Paired Box Transcription Factors
MH  - Promoter Regions, Genetic
MH  - Protein Binding
MH  - Protein Isoforms/genetics
MH  - Proto-Oncogene Proteins c-met/genetics
MH  - Quail
MH  - Recombinant Fusion Proteins/genetics/metabolism
MH  - Sequence Analysis, DNA
MH  - Terminology as Topic
MH  - *Transcription Factors
MH  - Transcription, Genetic
MH  - Transcriptional Activation
MH  - Tumor Cells, Cultured
EDAT- 1999/10/16 00:00
MHDA- 1999/10/16 00:01
CRDT- 1999/10/16 00:00
PHST- 1999/10/16 00:00 [pubmed]
PHST- 1999/10/16 00:01 [medline]
PHST- 1999/10/16 00:00 [entrez]
AID - S037811199900339X [pii]
AID - 10.1016/s0378-1119(99)00339-x [doi]
PST - ppublish
SO  - Gene. 1999 Sep 17;237(2):311-9. doi: 10.1016/s0378-1119(99)00339-x.