XX
XX
XX
FA Pax-3
XX
SY HuP2 (human); PAX3;
mPax-3; mPax3.
XX
OS mouse, Mus musculus
OC eukaryota;
animalia; metazoa; chordata; vertebrata; tetrapoda; mammalia;
OC eutheria; rodentia; myomorpha; muridae; murinae
XX
XX
CL C0018; paired-homeo; 3.2.1.0.2.
XX
SZ 479 AA;
53.0 kDa (cDNA), 56 kDa (SDS) [20]
XX
XX
SC SwissProt
#P24610
XX
FT 1 90 transcription inhibiting region [14].
FT 34 159 paired domain.
FT 34 159 PF00292; PAX.
FT 34
159 SM00351; PAX.
FT 219 278 homeo domain.
FT 219 281
SM00389; HOX.
FT 220 276 PF00046; homeobox.
FT 291 478
proline-/serine-/threonine-rich region (79/188).
FT 402 479
transcription activating region [14].
XX
SF independent
DNA-binding by paired and homeo domain contacting ATTA and
SF GTTCC motifs, resp. [12];
SF variable spacing of the subsites
[13];
SF paired domain induces conformational change in the
DNA [12];
SF homodimerization upon DNA-binding through residues
between paired and homeo
SF domain [12];
SF altered DNA-binding
or homodimerization in Splotch mutants [12];
SF Kr value to
the binding domain (e5) of the CD19 promoter=1.3EXP4 [9];
SF mutation in paired domain (Splotch) reduces binding by factor
17 and can
SF also reduce homeodomain binding activity (factor
21) [9];
SF interaction with HIRA by the use of the homeodomain
[2];
SF interaction with pRB-family proteins (pRB, p107, p130)
mediated by helix I
SF and helix II of the homeodomain [3];
XX
CP 8.5-d embryos: mitotic cells in the ventricular zone
of developing spinal
CP chord; some regions in hindbrain,
midbrain, diencephalon; 10-12-d embryos:
CP neural crest of
developing spinal ganglia, cranofacial mesectoderm, limb
CP
mesenchyme (10-11 d) [20]
CN differentiated neuronal cells
[1]
XX
FF activator (fused to GAL4-DNA binding domain)
[14];
FF mutations may cause Splotch (pigmentation abnormalities
in iris and hair,
FF eye displacement, exencephaly, spina
bifida, lack of limb musculature) [21]
FF [19], e. g. G42R
[12] or point mutation causing aberrant splicing [17];
FF
expression is detected between embryonic day 8.5 and 14.5 [20]
[15] [16];
FF absence of Sonic hedgehog (Shh) blocks expression
of Pax-3/7 [4];
FF Pax-3 maintains neural progenitor cells
undifferentiated [1];
FF interaction with pRB-family proteins
(pRB, p107, p130) causes repression of
FF transcription [3];
FF inhibition of the myogenic differentiation in cultered myoblast
cells
FF (C2C12 cells) [8];
FF necessary for migration
but not differentiation of limb muscle precursors
FF [6];
FF stimulation of c-met expression during limb muscle development
[7] [5];
FF may play a critical role as a repressor in the
place-dependent expression
FF of Ng-CAM (neuron-glia cell
adhesion molecule) in the nervous system [11];
XX
IN T02956;
HIRA; mouse, Mus musculus.
IN T02971; p107; mouse, Mus musculus.
IN T01608; p130; human, Homo sapiens.
IN T02972; p130; mouse,
Mus musculus.
IN T00680; Pax-3; mouse, Mus musculus.
IN
T01423; pRb; mouse, Mus musculus.
XX
XX
XX
XX
RN [1]; RE0014025.
RX MEDLINE; 98133329.
RA Reeves F.
C., Fredericks W. J., Rauscher F. J. 3rd, Lillycrop K. A.
RT The DNA binding activity of the paired box transcription factor
Pax-3 is
RT rapidly downregulated during neuronal cell differentiation
RL FEBS Lett. 422:118-122 (1998).
RN [2]; RE0014075.
RX
MEDLINE; 98400262.
RA Magnaghi P., Roberts C., Lorain S.,
Lipinski M., Scambler P. J.
RT HIRA, a mammalian homologue
of Saccharomyces cerevisiae transcriptional
RT co-repressors,
interacts with Pax3
RL Nat. Genet. 20:74-77 (1998).
RN
[3]; RE0014085.
RX MEDLINE; 98124188.
RA Wiggan O., Taniguchi-Sidle
A., Hamel P. A.
RT Interaction of the pRB-family proteins
with factors containing paired-like
RT homeodomains
RL
Oncogene 16:227-236 (1998).
RN [4]; RE0006702.
RX MEDLINE;
97083577.
RA Ericson J., Morton S., Kawakami A., Roelink H.,
Jessell T. M.
RT Two critical periods of Sonic Hedgehog signaling
required for the
RT specification of motor neuron identity
RL Cell 87:661-673 (1996).
RN [5]; RE0007031.
RX MEDLINE;
96210620.
RA Epstein J. A., Shapiro D. N., Cheng J., Lam P.
Y. P., Maas R. L.
RT Pax3 modulates expression of the c-Met
receptor during limb muscle
RT development.
RL Proc. Natl.
Acad. Sci. USA 93:4213-4218 (1996).
RN [6]; RE0014110.
RX MEDLINE; 96194059.
RA Daston G., Lamar E., Olivier M.,
Goulding M.
RT Pax-3 is necessary for migration but not differentiation
of limb muscle
RT precursors in the mouse
RL Development
122:1017-1027 (1996).
RN [7]; RE0014112.
RX MEDLINE; 96281660.
RA Yang X. M., Vogan K., Gros P., Park M.
RT Expression of
the met receptor tyrosine kinase in muscle progenitor cells
RT in somites and limbs is absent in Splotch mice
RL Development
122:2163-2171 (1996).
RN [8]; RE0004248.
RX MEDLINE; 95263503.
RA Epstein J. A., Lam P., Jepeal L., Maas R. L., Shapiro D. N.
RT Pax3 inhibits myogenic differentiation of cultured myoblast
cells
RL J. Biol. Chem. 270:11719-11722 (1995).
RN [9];
RE0010761.
RX MEDLINE; 95249539.
RA Underhill D. A., Vogan
K. J., Gros P.
RT Analysis of the mouse Splotch-delayed mutation
indicates that the Pax-3
RT paired domain can influence homeodomain
DNA-binding activity
RL Proc. Natl. Acad. Sci. USA 92:3692-3696
(1995).
RN [10]; RE0014013.
RX MEDLINE; 96032355.
RA Chalepakis G., Gruss P.
RT Identification of DNA recognition
sequences for the Pax3 paired domain
RL Gene 162:267-270 (1995).
RN [11]; RE0015185.
RX MEDLINE; 95403367.
RA Kallunki
P., Jenkinson S., Edelman G. M., Jones F. S.
RT Silencer elements
modulate the expression of the gene for the neuron-glia
RT
cell adhesion molecule, Ng-CAM
RL J. Biol. Chem. 270:21291-21298
(1995).
RN [12]; RE0004245.
RX MEDLINE; 94224806.
RA Chalepakis G., Goulding M., Read A., Strachan T., Gruss P.
RT Molecular basis of splotch and Waardenburg Pax-3 mutations
RL Proc. Natl. Acad. Sci. USA 91:3685-3689 (1994).
RN [13];
RE0004246.
RX MEDLINE; 94344776.
RA Chalepakis G., Wijnholds
J., Gruss P.
RT Pax-3 - DNA interaction: flexibility in the
DNA binding and induction of
RT DNA conformational changes
by paired domains
RL Nucleic Acids Res. 22:3131-3137 (1994).
RN [14]; RE0004247.
RX MEDLINE; 95108035.
RA Chalepakis
G., Jones F. S., Edelman G. M., Gruss P.
RT Pax-3 contains
domains for transcription activation and transcription
RT
inhibition
RL Proc. Natl. Acad. Sci. USA 91:12745-12749 (1994).
RN [15]; RE0004249.
RX MEDLINE; 94215499.
RA Bober E.,
Franz T., Arnold H. H., Gruss P., Tremblay P.
RT Pax-3 is
required for the development of limb muscles: a possible role
for
RT the migration of dermomyotomal muscle progenitor cells
RL Development 120:603-612 (1994).
RN [16]; RE0004250.
RX MEDLINE; 95324381.
RA Goulding M., Lumsden A., Paquette
A. J.
RT Regulation of Pax-3 expression in the dermomyotome
and its role in muscle
RT development
RL Development 120:957-971
(1994).
RN [17]; RE0004215.
RX MEDLINE; 93133822.
RA Epstein D. J., Vogan K. J., Trasler D. G., Gros P.
RT A
mutation within intron 3 of the Pax-3 gene produces aberrantly
spliced
RT mRNA transcripts in the splotch (Sp) mouse mutant
RL Proc. Natl. Acad. Sci. USA 90:532-536 (1993).
RN [18];
RE0004244.
RX MEDLINE; 93285106.
RA Maulbecker C. C.,
Gruss P.
RT The oncogenic potential of Pax genes
RL EMBO
J. 12:2361-2367 (1993).
RN [19]; RE0004254.
RX MEDLINE;
94010930.
RA Vogan K. J., Epstein D. J., Trasler D. G., Gros
P.
RT The splotch-delayed (Spd) mouse mutant carries a point
mutation within the
RT paired box of the Pax-3 gene
RL
Genomics 17:364-369 (1993).
RN [20]; RE0002795.
RX MEDLINE;
91216108.
RA Goulding M. D., Chalepakis G., Deutsch U., Erselius
J. R., Gruss P.
RT Pax-3, a novel murine DNA binding protein
expressed during early
RT neurogenesis
RL EMBO J. 10:1135-1147
(1991).
RN [21]; RE0004253.
RX MEDLINE; 92034997.
RA Epstein D. J., Vekemans M., Gros P.
RT Splotch (Sp2H),
a mutation affecting development of the mouse neural tube,
RT shows a deletion within the paired homeodomain of Pax-3
RL Cell 67:767-774 (1991).
XX
