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Impact of copy number variations (CNVs) on long-range gene regulation at the HoxD locus.

Montavon T, Thevenet L, Duboule D.

Proc Natl Acad Sci U S A. 2012 Dec 11;109(50):20204-11. doi: 10.1073/pnas.1217659109. Epub 2012 Nov 7.


Serial deletions and duplications suggest a mechanism for the collinearity of Hoxd genes in limbs.

Kmita M, Fraudeau N, Hérault Y, Duboule D.

Nature. 2002 Nov 14;420(6912):145-50.


An enhancer-titration effect induces digit-specific regulatory alleles of the HoxD cluster.

Monge I, Kondo T, Duboule D.

Dev Biol. 2003 Apr 15;256(2):212-20.


A regulatory archipelago controls Hox genes transcription in digits.

Montavon T, Soshnikova N, Mascrez B, Joye E, Thevenet L, Splinter E, de Laat W, Spitz F, Duboule D.

Cell. 2011 Nov 23;147(5):1132-45. doi: 10.1016/j.cell.2011.10.023.


Cooperation of regulatory elements involved in the activation of the Hoxd-11 gene.

Gérard M, Duboule D, Zákány J.

C R Acad Sci III. 1993 Sep;316(9):985-94. English, French.


Copy-number variations, noncoding sequences, and human phenotypes.

Klopocki E, Mundlos S.

Annu Rev Genomics Hum Genet. 2011;12:53-72. doi: 10.1146/annurev-genom-082410-101404. Review.


Evolutionary conserved sequences are required for the insulation of the vertebrate Hoxd complex in neural cells.

Kmita M, Tarchini B, Duboule D, Hérault Y.

Development. 2002 Dec;129(23):5521-8.


Transgenic analysis of Hoxd gene regulation during digit development.

Gonzalez F, Duboule D, Spitz F.

Dev Biol. 2007 Jun 15;306(2):847-59. Epub 2007 Mar 23.


Hoxd-12 differentially affects preaxial and postaxial chondrogenic branches in the limb and regulates Sonic hedgehog in a positive feedback loop.

Knezevic V, De Santo R, Schughart K, Huffstadt U, Chiang C, Mahon KA, Mackem S.

Development. 1997 Nov;124(22):4523-36.


Highly conserved syntenic blocks at the vertebrate Hox loci and conserved regulatory elements within and outside Hox gene clusters.

Lee AP, Koh EG, Tay A, Brenner S, Venkatesh B.

Proc Natl Acad Sci U S A. 2006 May 2;103(18):6994-9. Epub 2006 Apr 24.


Genetic analysis of a Hoxd-12 regulatory element reveals global versus local modes of controls in the HoxD complex.

Hérault Y, Beckers J, Kondo T, Fraudeau N, Duboule D.

Development. 1998 May;125(9):1669-77.


Inversion-induced disruption of the Hoxd cluster leads to the partition of regulatory landscapes.

Spitz F, Herkenne C, Morris MA, Duboule D.

Nat Genet. 2005 Aug;37(8):889-93. Epub 2005 Jul 3.


Copy-number variations involving the IHH locus are associated with syndactyly and craniosynostosis.

Klopocki E, Lohan S, Brancati F, Koll R, Brehm A, Seemann P, Dathe K, Stricker S, Hecht J, Bosse K, Betz RC, Garaci FG, Dallapiccola B, Jain M, Muenke M, Ng VC, Chan W, Chan D, Mundlos S.

Am J Hum Genet. 2011 Jan 7;88(1):70-5. doi: 10.1016/j.ajhg.2010.11.006. Epub 2010 Dec 17.


Duplications involving a conserved regulatory element downstream of BMP2 are associated with brachydactyly type A2.

Dathe K, Kjaer KW, Brehm A, Meinecke P, Nürnberg P, Neto JC, Brunoni D, Tommerup N, Ott CE, Klopocki E, Seemann P, Mundlos S.

Am J Hum Genet. 2009 Apr;84(4):483-92. doi: 10.1016/j.ajhg.2009.03.001. Epub 2009 Mar 26.


Mesomelic dysplasia Kantaputra type is associated with duplications of the HOXD locus on chromosome 2q.

Kantaputra PN, Klopocki E, Hennig BP, Praphanphoj V, Le Caignec C, Isidor B, Kwee ML, Shears DJ, Mundlos S.

Eur J Hum Genet. 2010 Dec;18(12):1310-4. doi: 10.1038/ejhg.2010.116. Epub 2010 Jul 21.


Deletion of a HoxD enhancer induces transcriptional heterochrony leading to transposition of the sacrum.

Zákány J, Gérard M, Favier B, Duboule D.

EMBO J. 1997 Jul 16;16(14):4393-402.


Convergent evolution of complex regulatory landscapes and pleiotropy at Hox loci.

Lonfat N, Montavon T, Darbellay F, Gitto S, Duboule D.

Science. 2014 Nov 21;346(6212):1004-6. doi: 10.1126/science.1257493.


Reshuffling genomic landscapes to study the regulatory evolution of Hox gene clusters.

Tschopp P, Fraudeau N, Béna F, Duboule D.

Proc Natl Acad Sci U S A. 2011 Jun 28;108(26):10632-7. doi: 10.1073/pnas.1102985108. Epub 2011 Jun 13.

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