Publications related to Mesomelic dysplasias associated with the HOXD locus are caused by regulatory reallocations

Context-dependent enhancer function revealed by targeted inter-TAD relocation

Denis Duboule, Lucille Delisle, Guillaume Andrey, Christopher Chase Bolt, Aurélie Hintermann

Here the authors show that a strong enhancer sequence can be controlled by the chromatin environment provided by a topologically associated domain (TAD) located nearby. An enhancer relocated by homologous recombination takes all the hallmarks of its new ne ...

NATURE PORTFOLIO2022

Chromatin topology and the timing of enhancer function at the HoxD locus

Denis Duboule, Lucille Delisle, Leonardo Beccari, Edgardo Rodriguez Carballo

The HoxD gene cluster is critical for proper limb formation in tetrapods. In the emerging limb buds, different subgroups of Hoxd genes respond first to a proximal regulatory signal, then to a distal signal that organizes digits. These two regulations are e ...

NATL ACAD SCIENCES2020

Fryns type mesomelic dysplasia of the upper limbs caused by inverted duplications of the HOXD gene cluster

Denis Duboule

The HoxD cluster is critical for vertebrate limb development. Enhancers located in both the telomeric and centromeric gene deserts flanking the cluster regulate the transcription of HoxD genes. In rare patients, duplications, balanced translocations or inv ...

NATURE PUBLISHING GROUP2020

Impact of genome architecture on the functional activation and repression of Hox regulatory landscapes

Denis Duboule, Lucille Delisle, Edgardo Rodriguez Carballo, Nayuta Yakushiji

Background The spatial organization of the mammalian genome relies upon the formation of chromatin domains of various scales. At the level of gene regulation in cis, collections of enhancer sequences define large regulatory landscapes that usually match wi ...

2019

Heterogeneous combinatorial expression of Hoxd genes in single cells during limb development

Denis Duboule, Marion Leleu, Pierre Raymond Fabre

Background: Global analyses of gene expression during development reveal specific transcription patterns associated with the emergence of various cell types, tissues, and organs. These heterogeneous patterns are instrumental to ensure the proper formation ...

BMC2018

Integration of Shh and Fgf signaling in controlling Hox gene expression in cultured limb cells

Denis Duboule, Guillaume Andrey, Patrick Schorderet, Nayuta Yakushiji

During embryonic development, fields of progenitor cells form complex structures through dynamic interactions with external signaling molecules. How complex signaling inputs are integrated to yield appropriate gene expression responses is poorly understood ...

National Academy of Sciences2017

The HoxD cluster is a dynamic and resilient TAD boundary controlling the segregation of antagonistic regulatory landscapes.

Denis Duboule, Lucille Delisle, Pierre Raymond Fabre, Leonardo Beccari, Edgardo Rodriguez Carballo

The mammalian HoxD cluster lies between two topologically associating domains (TADs) matching distinct enhancer-rich regulatory landscapes. During limb development, the telomeric TAD controls the early transcription of Hoxd genes in forearm cells, whereas ...

Cold Spring Harbor Laboratory Press2017

A role for HOX13 proteins in the regulatory switch between TADs at the HoxD locus

Denis Duboule, Leonardo Beccari, Anamaria Necsulea, Nicolas Lonfat, Edgardo Rodriguez Carballo, Nayuta Yakushiji

During vertebrate limb development, Hoxd genes are regulated following a bimodal strategy involving two topologically associating domains (TADs) located on either side of the gene cluster. These regulatory landscapes alternatively control different subsets ...

Cold Spring Harbor Laboratory2016

Control of Hoxd gene transcription in the mammary bud by hijacking a preexisting regulatory landscape

Denis Duboule, Jozsef Zakany, Guillaume Andrey, Leonardo Beccari, Anamaria Necsulea, Edgardo Rodriguez Carballo, Virginie Marcet

Vertebrate Hox genes encode transcription factors operating during the development of multiple organs and structures. However, the evolutionary mechanism underlying this remarkable pleiotropy remains to be fully understood. Here, we show that Hoxd8 and Hox ...

National Academy of Sciences2016

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Mesomelic dysplasias associated with the HOXD locus are caused by regulatory reallocations

Context-dependent enhancer function revealed by targeted inter-TAD relocation

Chromatin topology and the timing of enhancer function at the HoxD locus

Fryns type mesomelic dysplasia of the upper limbs caused by inverted duplications of the HOXD gene cluster

HOX13-dependent chromatin accessibility underlies the transition towards the digit development program

Impact of genome architecture on the functional activation and repression of Hox regulatory landscapes

Heterogeneous combinatorial expression of Hoxd genes in single cells during limb development

Integration of Shh and Fgf signaling in controlling Hox gene expression in cultured limb cells

The HoxD cluster is a dynamic and resilient TAD boundary controlling the segregation of antagonistic regulatory landscapes.

A role for HOX13 proteins in the regulatory switch between TADs at the HoxD locus

Control of Hoxd gene transcription in the mammary bud by hijacking a preexisting regulatory landscape

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Heterogeneous combinatorial expression of Hoxd genes in single cells during limb development

Context-dependent enhancer function revealed by targeted inter-TAD relocation

Impact of genome architecture on the functional activation and repression of Hox regulatory landscapes

HOX13-dependent chromatin accessibility underlies the transition towards the digit development program

Fryns type mesomelic dysplasia of the upper limbs caused by inverted duplications of the HOXD gene cluster

Control of Hoxd gene transcription in the mammary bud by hijacking a preexisting regulatory landscape

Integration of Shh and Fgf signaling in controlling Hox gene expression in cultured limb cells

Chromatin topology and the timing of enhancer function at the HoxD locus

The HoxD cluster is a dynamic and resilient TAD boundary controlling the segregation of antagonistic regulatory landscapes.

A role for HOX13 proteins in the regulatory switch between TADs at the HoxD locus