NEWS AND VIEWS
142 VOLUME 39 | NUMBER 2 | FEBRUARY 2007 | NATURE GENETICS
carboxypeptidase A inhibitor, but how this is
relevant to stem cell numbers is unclear. Lxn
expression is highest in the most primitive cells,
but at the same time it reduces their numbers.
Stem cells in congenic animals carrying the
DBA/2 Lxn allele cycled faster and appeared
to be resistant against apoptosis, but these
parameters were not assessed after retroviral
overexpression of Lxn. As a complement to
the overexpression experiments, it would have
been informative if the authors had attempted
to repress endogenous latexin levels by RNA
interference to assess whether this would lead
to an increase in stem cell numbers, a clinically
relevant issue. Recently, Lxn knockout animals
have been created that show reduced pain sen-
sing
8
. It will be interesting to quantify hemato-
poietic stem cell numbers in these mice.
The genetics of complex traits
Although it is evident that latexin can affect
hematopoietic stem cell numbers, no func-
tional quantitative trait SNP has been iden-
tified, and it remains formally possible that
latexin is not the only stem cell QTL on chro-
mosome 3. From a biological perspective,
however, this uncertainty is not very relevant.
The main objective of this study was to iden-
tify new genes that regulate hematopoietic
stem cells, and the authors have accomplished
exactly that. Together with recently published
data that identified the Polycomb group gene
Ezh2 as another stem cell regulator
9
, this study
clearly proves the validity of an approach that
was initiated more than 25 years ago.
This study documents the strength of using a
genetic reference panel of inbred mice to iden-
tify quantitative trait genes. The recombinant
inbred strains of mice have been phenotyped
for hundreds of classical phenotypes and tens
of thousands of gene expression phenotypes
measured in multiple organs (including hema-
topoietic stem cells, various neuronal tissues,
eye and liver), all stored in a user-friendly online
database (http://www.genenetwork.org)
10
.
The power of integrating all these genetic and
genomic data has now been well documented,
offering a glimpse of what the future of com-
plex trait genetics will look like. Model systems
that are genetically more complex, including
extensive eight-strain crosses
11,12
and haplotype
association studies using large panels of regular
inbred strains of mice, and even humans, are
on the horizon. These resources will prove to be
very powerful and will aid in dissecting clinically
relevant complex phenotypes into their individ-
ual components, thus allowing the identification
of causative genes.
COMPETING INTERESTS STATEMENT
The author declares that he has no competing
financial interests.
1. Liang, Y., Jansen, M., Aronow, B., Geiger, H. & Van
Zant, G. Nat. Genet. 39, 178–188 (2007)
2. Van Zant, G., Eldridge, P.W., Behringer, R.R. & Dewey,
M.J. Cell 35, 639–645 (1983).
3. de Haan, G. & Van Zant, G. J. Exp. Med. 186, 529–536
(1997).
4. Muller-Sieburg, C.E. & Riblet, R. J. Exp. Med. 183,
1141–1150 (1996).
5. Hasegawa, M., Baldwin, T.M., Metcalf, D. & Foote, S.J.
Blood 95, 1872–1874 (2000).
6. Henckaerts, E., Langer, J.C. & Snoeck, H.W. Blood
104, 374–379 (2004).
7. Bystrykh, L. et al. Nat. Genet. 37, 225–232 (2005).
8. Jin, M. et al. Brain Res. 1075, 117–121 (2006).
9. Kamminga, L.M. et al. Blood 107, 2170–2179
(2006).
10. Chesler, E.J., Lu, L., Wang, J., Williams, R.W. & Manly,
K.F. Nat. Neurosci. 7, 485–486 (2004).
11. Churchill, G.A. et al. Nat. Genet. 36, 1133–1137
(2004).
12. Valdar, W. et al. Nat. Genet. 38, 879–887 (2006).
Fanconi anemia and breast cancer susceptibility
Ketan J Patel
Two new studies show that the Fanconi anemia complementation group N results from biallelic mutations in PALB2,
which encodes a recently identified interaction partner of the breast cancer susceptibility protein BRCA2. A third
study shows that monoallelic PALB2 mutations are associated with breast cancer susceptibility, providing yet more
links between Fanconi anemia, homologous recombination repair and cancer predisposition.
Ketan J. Patel is at the Medical Research Council
Laboratory of Molecular Biology, Hills Road,
Cambridge, UK.
e-mail: kjp@mrc-lmb.cam.ac.uk
Almost 50 years have passed since the Swiss
pediatrician Guido Fanconi described a genetic
condition characterized by developmental
abnormalities, bone marrow failure and can-
cer susceptibility
1
. This curious disease, called
Fanconi anemia, has spawned an international
research effort because of its intriguing pheno-
type and its remarkable genetic heterogeneity.
Indeed, the disease has thus far been associated
with mutations in any of 13 genes, suggesting
that their gene products function in a common
pathway (Fig. 1). Most of the Fanconi anemia
gene products form a multiprotein E3 ubiqui-
tin ligase known as the Fanconi anemia nuclear
core complex, and three others seem to func-
tion downstream of this complex: FANCD2
(the core complex’s known ubiquitination sub-
strate), BRIP1 (a DNA helicase, also known as
FANCJ) and BRCA2 (also known as FANCD1).
The nuclear core complex and the downstream
proteins probably function to resolve DNA rep-
lication blocks, an impediment potentiated by
agents that crosslink DNA
2
. However, despite
the identification of so many of the underlying
Fanconi anemia gene products, a coherent pic-
ture of how this pathway functions to preserve
genome integrity remains elusive. Moreover,
little is known about how these molecular com-
ponents relate to the phenotypic features of
Fanconi anemia such as progressive bone mar-
row stem cell loss, abnormal development and
cancer risk. Therefore, considerable emphasis has
been placed on identifying new Fanconi anemia
genes that may help fill the crucial gaps in our
knowledge of this pathway.
On pages 155 and 158 of this issue, Xia et al.
3
and Reid et al.
4
report the discovery that the
Fanconi anemia complementation group FA-N
results from biallelic mutations in PALB2 (‘part-
ner and localizer of BRCA2’), encoding a protein
recently identified as a binding partner of the
breast cancer tumor suppressor protein BRCA2
(ref. 5). In a third study on page 161 of this issue,
Rahman et al.
6
report that monoallelic PALB2
mutations are associated with increased suscepti-
bility to familial breast cancer. Collectively, these
studies add to the mounting body of evidence
linking components of the Fanconi anemia path-
way with breast cancer risk.
Guilt by association
To appreciate the background behind these dis-
coveries, it is helpful to recount a short history
of BRCA2 and its association with Fanconi ane-
mia. Mouse cells with truncating mutations in
Brca2 were initially shown to accumulate aber-
rant chromosomes, sharing strong similarities
with human Fanconi anemia cells
7
. However,
© 2007 Nature Publishing Group http://www.nature.com/naturegenetics