*159970 MYOGENIC DIFFERENTIATION ANTIGEN 1;
MYOD1
Alternative
titles; symbols
MYOD
MYOGENIC FACTOR 3; MYF3
table OF
CONTENTS
Gene Map Locus: 11p15.4
Note: pressing the 
symbol will find the citations in MEDLINE whose
text most closely matches the text of the preceding
OMIM paragraph, using the Entrez MEDLINE
neighboring function.
TEXT
Davis et al. (1987)
isolated the cDNAs for 3 distinct human myogenic
factors, MYF3, MYF4 (159980),
and MYF5 (159990),
by weak cross-hybridization to the mouse MyoD1
probe. MYF3 proved to be the human homolog of mouse
MyoD1.
Olson (1990)
diagrammed a structural comparison of 4 mammalian
myogenic regulatory factors: MYOD, myogenin (MYF4),
MYF5, and MRF4 (159991).
The region of homology is that involved in DNA
binding for activation of myogenesis.
Weintraub et al.
(1991) and Tapscott and
Weintraub (1991) reviewed the role of the MyoD
family in controlling specification of the muscle
cell lineage. MyoD is expressed only in skeletal
muscle and its precursors; in nonmuscle cells the
gene is repressed by specific genes. MyoD activates
its own transcription; this may stabilize
commitment to myogenesis. The MyoD protein is a
member of a large family of proteins related by
sequence homology, the helix-loop-helix (HLH)
proteins.
Sartorelli et al.
(1999) showed that MYOD is directly acetylated
by PCAF (602303)
at evolutionarily conserved lysines (positions 99,
102, and 104). Acetylated MYOD displayed an
increased affinity for its DNA target. Conservative
substitutions of acetylated lysines with
nonacetylatable arginines impaired the ability of
MYOD to stimulate transcription and to induce
conversion, indicating that acetylation of MYOD is
functionally critical.
By screening of hybrid cell DNA, Braun
et al. (1989) assigned the MYF3 gene to human
chromosome 11. This confirmed the localization by
Tapscott et al. (1988),
who suggested the same assignment by use of the
heterologous mouse probe. The mouse MyoD1 gene is
capable of inducing the myogenic phenotype in
embryonic C3H mouse fibroblasts. It is of interest
that a locus on human chromosome 11 has been
associated with the development of embryonic
tumors, including rhabdomyosarcoma (268210).
Henry et al. (1989)
mapped MYOD1, a marker for myogenic differentiation
(Davis et al., 1987), to
11p15.4-p15.1 by Southern blot analysis of somatic
cell hybrids containing different breakpoints in
region 11p15. Scrable et al.
(1990) determined that the MYOD1 gene is
tightly linked to the structural gene for lactate
dehydrogenase-A (150000)
in band 11p15.4. They found that the corresponding
locus in the mouse is close to the p ('pink-eyed
dilution') and Ldh-1 loci on mouse chromosome 7. By
in situ hybridization, Gessler
et al. (1990) mapped the gene to 11p14,
possibly 11p14.3. Furthermore, they showed by
analysis of several somatic cell hybrids containing
various derivatives with deletions or
translocations that the MYF3 gene is not associated
with the WAGR locus at chromosomal band 11p13 or
with the loss of heterozygosity (LOH) region at
11p15.5 related to the Beckwith-Wiedemann syndrome.
REFERENCES
- 1. Braun, T.;
Grzeschik, K.-H.; Bober, E.; Arnold, H.-H.
:
- The MYF genes, a group of human
muscle determining factors, are localized on
different human chromosomes. (Abstract)
Cytogenet. Cell Genet. 51: 969 only,
1989.
- 2. Davis, R. L.;
Weintraub, H.; Lassar, A. B. :
- Expression of a single transfected
cDNA converts fibroblasts to myoblasts.
Cell 51: 987-1000, 1987.
PubMed ID : 3690668
- 3. Gessler, M.;
Hameister, H.; Henry, I.; Junien, C.; Braun, T.;
Arnold, H. H. :
- The human MyoD1 (MYF3) gene maps on
the short arm of chromosome 11 but is not
associated with the WAGR locus or the region for
the Beckwith-Wiedemann syndrome.
Hum. Genet. 86: 135-138, 1990.
PubMed ID : 2176177
- 4. Henry, I.; Puech,
A.; Antignac, C.; Couillin, P.; Jeanpierre, M.;
Ahnine, L.; Barichard, F.; Boehm, T.; Augereau,
P.; Scrable, H.; Rabbitts, T. H.; Rochefort, H.;
Cavenee, W.; Junien, C. :
- Subregional mapping of BWS, CTSD,
MYOD1, and a T-ALL breakpoint in 11p15.
(Abstract) Cytogenet. Cell
Genet. 51: 1013 only, 1989.
- 5. Olson, E. N.
:
- MyoD family: a paradigm for
development. Genes Dev. 4:
1454-1461, 1990.
PubMed ID : 2253873
- 6. Sartorelli, V.;
Puri, P. L.; Hamamori, Y.; Ogryzko, V.; Chung,
G.; Nakatani, Y.; Wang, J. Y. J.; Kedes, L.
:
- Acetylation of MyoD directed by PCAF
is necessary for the execution of the muscle
program. Molec. Cell 4:
725-734, 1999.
PubMed ID : 10619020
- 7. Scrable, H. J.;
Johnson, D. K.; Rinchik, E. M.; Cavenee, W. K.
:
- Rhabdomyosarcoma-associated locus
and MYOD1 are syntenic but separate loci on the
short arm of human chromosome 11.
Proc. Nat. Acad. Sci. 87: 2182-2186,
1990.
PubMed ID : 2315312
- 8. Tapscott, S. J.;
Davis, R. L.; Thayer, M. J.; Cheng, P. F.;
Weintraub, H.; Lassar, A. B. :
- MyoD1: a nuclear phosphoprotein
requiring a Myc homology region to convert
fibroblasts to myoblasts.
Science 242: 405-411, 1988.
PubMed ID : 3175662
- 9. Tapscott, S. J.;
Weintraub, H. :
- MyoD and the regulation of
myogenesis by helix-loop-helix
proteins. J. Clin. Invest. 87:
1133-1138, 1991.
PubMed ID : 1849142
- 10. Weintraub, H.;
Davis, R.; Tapscott, S.; Thayer, M.; Krause, M.;
Benezra, R.; Blackwell, T. K.; Turner, D.; Rupp,
R.; Hollenberg, S.; Zhuang, Y.; Lassar, A.
:
- The myoD gene family: nodal point
during specification of the muscle cell
lineage. Science 251: 761-766,
1991.
PubMed ID : 1846704
Stylianos E. Antonarakis - updated :
1/4/2000
Victor A. McKusick : 6/2/1989
EDIT HISTORY
mgross : 1/4/2000
alopez : 11/20/1998
dkim : 7/24/1998
alopez : 6/2/1997
mimadm : 4/14/1994
carol : 11/9/1992
supermim : 3/16/1992
carol : 5/8/1991
carol : 4/15/1991
carol : 4/5/1991
|
