Publications | Spitz Lab

Selected Publications

Bahr C, von Paleske L, Uslu VV, Remeseiro S, Takayama N, Ng SW, Murison A, Langenfeld K, Petretich M, Scognamiglio R, Zeisberger P, Benk AS, Amit I, Zandstra PW, Lupien M, Dick JE, Trumpp A and Spitz F. A Myc enhancer cluster regulates normal and leukaemic haematopoietic stem cell hierarchies. 2018. Nature. 553:515-520. doi: 10.1038/nature25193

Schwarzer W, Abdennur N, Goloborodko A, Pekowska A, Fudenberg G, Loe-Mie Y, Fonseca NA, Huber W, Haering C, Mirny L and Spitz F. Two independent modes of chromosome organization revealed by cohesin removal. 2017 Nature. 551: 51-66. doi: 10.1038/nature24281

Symmons O, Pan L, Remeseiro S, Aktas T, Klein F, Huber W, and Spitz F. The Shh Topological Domain Facilitates the Action of Remote Enhancers by Reducing the Effects of Genomic Distances. 2016. Dev Cell. 39: 529–543. doi:10.1016/j.devcel.2016.10.015

Uslu VV, Petretich M, Ruf S, Langenfeld K, Fonseca N, Marioni J, Spitz F. 2014. Long-range enhancers regulating Myc expression are required for normal facial morphogenesis. Nature Genetics 46: 753–758.

Symmons O, Uslu VV, Tsujimura T, Ruf S, Nassari S, Schwarzer W, Ettwiller L, Spitz F. 2014. Functional and topological characteristics of mammalian regulatory domains. Genome Res. 24: 390–400.

Spitz F. Gene regulation at a distance: From remote enhancers to 3D regulatory ensembles. 2016. Seminars in cell & developmental biology. 57: 57–67. doi:10.1016/j.semcdb.2016.06.017

Full list of publications

Kaucka M, Petersen J, Tesarova M, et al. Signals from the brain and olfactory epithelium control shaping of the mammalian nasal capsule cartilage. 2018. Elife. 7. pii: e34465. doi: 10.7554/eLife.34465.

Sebé-Pedrós A, Saudemont B, Chomsky E, Plessier F, Mailhe M-P, Renno J, Loe-Mie Y, Lifshitz A, Mukamel Z, Schmutz S, Novault S, Steinmetz PRH, Spitz F, Tanay A, Marlow H. Cnidarian cell type diversity and regulation revealed by whole-organism single-cell RNA-seq. 2018. Cell. 173:1520-1534.e20. doi: 10.1016/j.cell.2018.05.019.
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Franke M, Ibrahim DM, Andrey G, Schwarzer W, Heinrich V, Schöpflin R, Kraft K, Kempfer R, Jerković I, Chan WL, Spielmann M, Timmermann B, Wittler L, Kurth I, Cambiaso P, Zuffardi O, Houge G, Lambie L, Brancati F, Pombo A, Vingron M, Spitz F, Mundlos S. Formation of new chromatin domains determines pathogenicity of genomic duplications. 2016. Nature. 538: 265–269. doi:10.1038/nature19800

Yao Y, Minor PJ, Zhao YT, Jeong Y, Pani AM, King AN, Symmons O, Gan L, Cardoso WV, Spitz F, Lowe CJ, Epstein DJ. Cis-regulatory architecture of a brain signaling center predates the origin of chordates. 2016. Nat Genet. 2016;48: 575–580. doi:10.1038/ng.3542

Kishimoto R, Tamada K, Liu X, Okubo H, Ise S, Ohta H, Ruf S, Nakatani J, Kohno N, Spitz F, and Takumi T. Model mice for 15q11-13 duplication syndrome exhibit late-onset obesity and altered lipid metabolism. 2015. Hum Mol Genetics 24, 4559–4572. doi:10.1093/hmg/ddv187

Amin S, Donaldson IJ, Zannino DA, Hensman J, Rattray M, Losa M, Spitz F, Ladam F, Sagerström C, Bobola N. Hoxa2 selectively enhances Meis binding to change a branchial arch ground state. 2015. Dev. Cell. 32, 265–277.

Tsujimura T, Klein FA, Langenfeld K, Glaser J, Huber W, Spitz F. A discrete transition zone organizes the topological and regulatory autonomy of the adjacent Tfap2c and Bmp7 genes. 2015. PLOS Genetics 11:e1004897. doi: 10.1371/journal.pgen.1004897

Symmons O, Uslu VV, Tsujimura T, Ruf S, Nassari S, Schwarzer W, Ettwiller L, Spitz F. 2014. Functional and topological characteristics of mammalian regulatory domains. Genome Res. 24: 390–400.

Kirchmaier S, Höckendorf B, Möller EK, Bornhorst D, Spitz F, Wittbrodt J. 2013. Efficient site-specific transgenesis and enhancer activity tests in medaka using PhiC31 integrase. Development 140: 4287–4295.

Andrey G, Montavon T, Mascrez B, Gonzalez F, Noordermeer D, Leleu M, Trono D, Spitz F, Duboule D. 2013. A switch between topological domains underlies HoxD genes collinearity in mouse limbs. Science 340: 1234167.

Marinić M, Aktas T, Ruf S, Spitz F. 2013. An Integrated Holo-Enhancer Unit Defines Tissue and Gene Specificity of the Fgf8 Regulatory Landscape. Dev Cell 24: 530–542.

Chen C-K, Symmons O, Uslu VV, Tsujimura T, Ruf S, Smedley D, Spitz F. 2013. TRACER: a resource to study the regulatory architecture of the mouse genome. BMC Genomics 14: 215.

Montavon T, Soshnikova N, Mascrez B, Joye E, Thevenet L, Splinter E, de Laat W, Spitz F, Duboule D. 2011. A regulatory archipelago controls hox genes transcription in digits. Cell 147: 1132–1145.

Ruf S, Symmons O, Uslu VV, Dolle D, Hot C, Ettwiller L, Spitz F. 2011. Large-scale analysis of the regulatory architecture of the mouse genome with a transposon-associated sensor. Nat Genet 43: 379–386.

Friedli M, Barde I, Arcangeli M, Verp S, Quazzola A, Zakany J, Lin-Marq N, Robyr D, Attanasio C, Spitz F, et al. 2010. A systematic enhancer screen using lentivector transgenesis identifies conserved and non-conserved functional elements at the Olig1 and Olig2 locus. PLoS ONE 5: e15741.

Rowe HM, Jakobsson J, Mesnard D, Rougemont J, Reynard S, Aktas T, Maillard PV, Layard-Liesching H, Verp S, Marquis J, et al. 2010. KAP1 controls endogenous retroviruses in embryonic stem cells. Nature 463: 237–240.

Tschopp P, Tarchini B, Spitz F, Zakany J, Duboule D. 2009. Uncoupling time and space in the collinear regulation of Hox genes. PLoS Genet 5: e1000398.

Ettwiller L, Budd A, Spitz F, Wittbrodt J. 2008. Analysis of mammalian gene batteries reveals both stable ancestral cores and highly dynamic regulatory sequences. Genome Biol 9: R172.

Friedli M, Nikolaev S, Lyle R, Arcangeli M, Duboule D, Spitz F, Antonarakis SE. 2008. Characterization of mouse Dactylaplasia mutations: a model for human ectrodactyly SHFM3. Mamm Genome 19: 272–278.

Sauvain M-O, Dorr AP, Stevenson B, Quazzola A, Naef F, Wiznerowicz M, Schütz F, Jongeneel V, Duboule D, Spitz F, et al. 2008. Genotypic features of lentivirus transgenic mice. J Virol 82: 7111–7119.

Gonzalez F, Duboule D, Spitz F. 2007. Transgenic analysis of Hoxd gene regulation during digit development. Dev Biol 306: 847–859.

Brown SDM, Chambon P, de Angelis MH, Eumorphia Consortium. 2005. EMPReSS: standardized phenotype screens for functional annotation of the mouse genome. Nat Genet 37: 1155.

Spitz F, Herkenne C, Morris MA, Duboule D. 2005. Inversion-induced disruption of the Hoxd cluster leads to the partition of regulatory landscapes. Nat Genet 37: 889–893.

Grifone R, Laclef C, Spitz F, Lopez S, Demignon J, Guidotti J-E, Kawakami K, Xu P-X, Kelly R, Petrof BJ, et al. 2004. Six1 and Eya1 expression can reprogram adult muscle from the slow-twitch phenotype into the fast-twitch phenotype. Mol Cell Biol 24: 6253–6267.

Zuniga A, Michos O, Spitz F, Haramis A-PG, Panman L, Galli A, Vintersten K, Klasen C, Mansfield W, Kuc S, et al. 2004. Mouse limb deformity mutations disrupt a global control region within the large regulatory landscape required for Gremlin expression. Genes Dev 18: 1553–1564.

Spitz F, Gonzalez F, Duboule D. 2003. A global control region defines a chromosomal regulatory landscape containing the HoxD cluster. Cell 113: 405–417.

Spitz F, Benbacer L, Sabourin JC, Salminen M, Chen F, Cywiner C, Kahn A, Chatelet F, Maire P, Daegelen D. 2002a. Fiber-type specific and position-dependent expression of a transgene in limb muscles. Differentiation 70: 457–467.

Spitz F, Montavon T, Monso-Hinard C, Morris M, Ventruto M-L, Antonarakis S, Ventruto V, Duboule D. 2002b. A t(2;8) balanced translocation with breakpoints near the human HOXD complex causes mesomelic dysplasia and vertebral defects. Genomics 79: 493–498.

Spitz F, Gonzalez F, Peichel C, Vogt TF, Duboule D, Zákány J. 2001. Large scale transgenic and cluster deletion analysis of the HoxD complex separate an ancestral regulatory module from evolutionary innovations. Genes Dev 15: 2209–2214.

Fan X, Brass LF, Poncz M, Spitz F, Maire P, Manning DR. 2000. The alpha subunits of Gz and Gi interact with the eyes absent transcription cofactor Eya2, preventing its interaction with the six class of homeodomain-containing proteins. J Biol Chem 275: 32129–32134.

Spitz F, Demignon J, Kahn A, Daegelen D, Maire P. 1999. Developmental regulation of the aldolase A muscle-specific promoter during in vivo muscle maturation is controlled by a nuclear receptor binding element. J Mol Biol 289: 893–903.

Moch C, Spitz F, Porteu A, Kahn A, Daegelen D. 1998. The human pH aldolase A promoter directs widespread but muscle-predominant expression in transgenic mice. Transgenic Res 7: 113–121.

Spitz F, De Vasconcelos ZA, Châtelet F, Demignon J, Kahn A, Mira JC, Maire P, Daegelen D. 1998a. Proximal sequences of the aldolase A fast muscle-specific promoter direct nerve- and activity-dependent expression in transgenic mice. J Biol Chem 273: 14975–14981.

Spitz F, Demignon J, Demeurie J, Sabourin JC, Kahn A, Daegelen D, Maire P. 1998b. A binding site for nuclear receptors is required for the differential expression of the aldolase A fast-twitch muscle promoter in body and head muscles. J Biol Chem 273: 561–567.

Spitz F, Demignon J, Porteu A, Kahn A, Concordet JP, Daegelen D, Maire P. 1998c. Expression of myogenin during embryogenesis is controlled by Six/sine oculis homeoproteins through a conserved MEF3 binding site. Proc Natl Acad Sci USA 95: 14220–14225.

Spitz F, Salminen M, Demignon J, Kahn A, Daegelen D, Maire P. 1997. A combination of MEF3 and NFI proteins activates transcription in a subset of fast-twitch muscles. Mol Cell Biol 17: 656–666.

Salminen M, Spitz F, Fiszman MY, Demignon J, Kahn A, Daegelen D, Maire P. 1995. Myotube-specific activity of the human aldolase A M-promoter requires an overlapping binding site for NF1 and MEF2 factors in addition to a binding site (M1) for unknown proteins. J Mol Biol 253: 17–31.

Reviews, book chapters.

Spitz F. Gene regulation at a distance: From remote enhancers to 3D regulatory ensembles. 2016. Seminars in cell & developmental biology. 57: 57–67. doi:10.1016/j.semcdb.2016.06.017

Remeseiro S, Hörnblad S, and Spitz F. Gene regulation during development in the light of topologically associating domains. 2015. Wiley Interdiscip Rev Dev Biol. doi:10.1002/wdev.218

Schwarzer W, Spitz F. 2014. The architecture of gene expression: integrating dispersed cis-regulatory modules into coherent regulatory domain. Curr Opin Dev Genetics 27C: 74-82.

Symmons O, Spitz F. 2013. From remote enhancers to gene regulation: charting the genome’s regulatory landscapes. Philos Trans R Soc Lond, B, Biol Sci 368: 20120358.

Weischenfeldt J, Symmons O, Spitz F*, Korbel JO*. 2013. Phenotypic impact of genomic structural variation: insights from and for human disease. Nat Rev Genet 14: 125–138. ( * joint corresponding authors)

Spitz F*, Furlong EEM*. 2012. Transcription factors: from enhancer binding to developmental control. Nat Rev Genet 13: 613–626. ( * joint corresponding authors)

Spitz F. 2010. Control of vertebrate Hox clusters by remote and global cis-acting regulatory sequences. Adv Exp Med Biol 689: 63–78.

Spitz F, Duboule D. 2008. Global control regions and regulatory landscapes in vertebrate development and evolution. Adv Genet 61: 175–205.

Invited commentaries.

Spitz F, Furlong EEM. 2006. Genomics and development: Taking developmental biology to new heights. Dev. Cell 11: 451-457

Spitz F, Herkenne C, Hinard C, Duboule D. 2006. [A STRING lifts the veil on the mechanisms controlling Hox genes expression]. Med Sci (Paris) 22: 14–16.

Spitz F, Duboule D. 2005. Developmental biology: reproduction in clusters. Nature 434: 715-716

Spitz F. 2004. [Genes without borders: global control of transcription activity at the level of several genes]. Médecine sciences 20: 9-10.

Spitz F, Duboule D. 2001. Development. The art of making a joint. Science 291: 1713–1714.