1076 VOLUME 41 | NUMBER 10 | OCTOBER 2009 NATURE GENETICS
ARTICLES
Coordination between cellular proliferation and differentiation
controls and maintains homeostasis in multicellular organisms.
Appropriate numbers of undifferentiated cells must be generated at
specific developmental stages and these cells must exit the cell cycle
in a tightly regulated manner to ensure proper cell fate specification
and pattern formation.
PcG genes encode epigenetic factors that repress developmental
target genes. PcG proteins are involved in many biological processes,
including repression of homeotic gene transcription, regulation of
stem cell identity, genomic imprinting and X-chromosome inactiva-
tion
1
. Mutation or misexpression of PcG genes has been associated
with several types of human cancer. However, tumors accumulate
multiple genetic and epigenetic modifications, and it has not been
shown that PcG factors can cause neoplastic transformation
2
.
Here, we have addressed this issue in vivo using the developing
Drosophila eye imaginal disc as a model system. The larval imagi-
nal discs, which share several properties with mammalian epithelial
tissues, are composed of epithelial cells that must maintain proportional
growth, differentiation and renewal to generate adult tissues and body
structures correctly. Imaginal disc cells proliferate and differentiate
in response to molecular pathways that are highly conserved across
species and that are perturbed in oncogenesis.
PcG proteins regulate cell cycle genes such as Cdkn2a (also known
as Ink4a and Arf) in vertebrates
3,4
. Moreover, many genes that become
silenced in cancer cells by DNA hypermethylation have been identified
as PcG target genes in stem cells
5–7
, and the oncogene Bmi1 can control
tumor development even in Cdkn2a-deficient mice
8
. This indicates that
Polycomb-dependent control of cell proliferation might involve multiple
mechanisms that remain to be elucidated. Likewise, PcG proteins control
cell cycle genes in Drosophila, but their regulatory function is not under-
stood
9–11
. Therefore, we analyzed the role of PcG genes in the regulation
of cell proliferation in the Drosophila eye.
RESULTS
Mutation of the PcG locus ph leads to tissue overgrowth
All PcG genes have an essential function in Drosophila. Therefore,
we generated clones of homozygous null mutant cells in otherwise
heterozygous animals by mitotic recombination using the mosaic
analysis with a repressible cell marker (MARCM) system
12,13
. We used
MARCM to knock out both genes (ph-p and ph-d) in the ph locus
(see Online Methods) in order to eliminate the PH protein, an essen-
tial stoichiometric component of the multimeric Polycomb complex
PRC1 (ref. 14). To trigger mitotic recombination, we expressed FLP
recombinase under the control of the early-expressed ey promoter
(eyFLP). MARCM clones of ph null tissue, labeled by green fluores-
cent protein (GFP; Supplementary Fig. 1) and examined at the late
third-instar larval stage, showed a marked overgrowth (Fig. 1). Larvae
bearing ph null clones are bigger than larvae bearing equivalent neu-
tral clones owing to an extension in the duration of the larval stages
(Fig. 1a), a typical phenotype of tumor suppressor gene mutations
15,16
.
Moreover, larvae with ph null clones show a stronger GFP signal in
the anterior body than control larvae, indicating that there might be
an increase in the mutant cell mass. Eye imaginal discs containing
ph null clones were up to three times larger than control eye discs
Polyhomeotic has a tumor suppressor activity mediated
by repression of Notch signaling
Anne-Marie Martinez
1,2
, Bernd Schuettengruber
1
, Samy Sakr
1
, Ana Janic
3
, Cayetano Gonzalez
3
&
Giacomo Cavalli
1
Polycomb Group (PcG) proteins silence critical developmental genes and modulate cell proliferation. Using the Drosophila
melanogaster eye as a model system, we show that cells with mutations in the gene locus (ph) that encodes the PcG protein
Polyhomeotic (PH) overproliferate and lose both the ability to differentiate and their normal polarity. They invade the neighboring
tissues and, when combined with an activated form of the Ras proto-oncogene, they trigger the formation of metastases.
PcG proteins bind to multiple genes in the Notch pathway and control their transcription as well as Notch signaling. The massive
cell-autonomous overproliferation of ph mutant cell clones can be rescued by ectopic expression of a dominant negative form
of Notch or by RNA interference (RNAi)-mediated repression of Notch. Conversely, overexpression of ph induces a small-eye
phenotype that is rescued by activation of Notch signaling. These data show that ph is a tumor suppressor locus that controls
cellular proliferation by silencing multiple Notch signaling components.
1
Institut de Génétique Humaine, Centre Nationale de la Recherche Scientifique, Montpellier, France.
2
Faculté des Sciences, Université de Montpellier 2, Montpellier,
France.
3
Cell Division Group, Institute for Research in Biomedicine and Institució Catalana de Recerca i Estudis Avançats, Parc Científic Barcelona, Barcelona, Spain.
Correspondence should be addressed to G.C. (Giacomo.Cavalli@igh.cnrs.fr) or A.-M.M. (Anne-Marie.Martinez@igh.cnrs.fr).
Received 2 April; accepted 5 June; published online 13 September 2009; doi:10.1038/ng.414
© 2009 Nature America, Inc. All rights reserved.