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A t(2;8) balanced translocation with breakpoints near the human HOXD complex causes mesomelic dysplasia and vertebral defects

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

Denis Duboule, Lucille Delisle, Christopher Chase Bolt

Mesomelic dysplasia, a severe shortening and bending of the limb, has been linked to rearrangements in the HoxD cluster in humans and mice. Here the authors engineer a 1 Mb inversion including the HoxD gene cluster and use this model to provide a mechanist ...

NATURE PORTFOLIO2021

Expression and differential regulation of human TERRA at several chromosome ends

Joachim Lingner, Marianna Feretzaki, Patricia Renck Nunes

The telomeric long noncoding RNA TERRA has been implicated in regulating telomere maintenance by telomerase and homologous recombination, and in influencing telomeric protein composition during the cell cycle and the telomeric DNA damage response. TERRA tr ...

COLD SPRING HARBOR LAB PRESS, PUBLICATIONS DEPT2019

Similarities and differences in the regulation of HoxD genes during chick and mouse limb development

Denis Duboule, Lucille Delisle, Guillaume Andrey, Leonardo Beccari, Christopher Chase Bolt, Nayuta Yakushiji

In all tetrapods examined thus far, the development and patterning of limbs require the activation of gene members of the HoxD cluster. In mammals, they are regulated by a complex bimodal process that controls first the proximal patterning and then the dis ...

PUBLIC LIBRARY SCIENCE2018

Despite the crucial importance of Hox genes functions during animal development, the mechanisms that control their transcription in time and space are not yet fully understood. In this context, it was proposed that Hotair, a lncRNA transcribed from within ...

Public Library Science2016

Long noncoding telomeric repeat-containing RNAs TERRAs - are transcribed in a regulated manner from telomeres throughout eukaryotes. TERRA molecules consist of chromosome end-specific subtelomeric sequences and telomeric repeats at their 3' ends. Recent wo ...

Elsevier Science London2015

Construction of pDYN6902, a new Streptomyces integrative expression vector designed for cloning sequences interfering with Escherichia coli viability

Julien Hiblot, Pierre Leblond

We describe here the construction of a new version of the Escherichia coli-Streptomyces shuttle cloning vector pIJ6902, which carries the original thiostrepton-inducible PtipA as well as the integrative and cloning systems, but with the E. coil low copy nu ...

Academic Press Inc Elsevier Science2015

Tetrapod axial evolution and developmental constraints; Empirical underpinning by a mouse model

Denis Duboule

The tetrapod vertebral column has become increasingly complex during evolution as an adaptation to a terrestrial life. At the same time, the evolution of the vertebral formula became subject to developmental constraints acting on the size of the cervical a ...

Elsevier2015

A transcript perspective on evolution

Bernard Moret, Yann Christinat

Alternative splicing is now recognized as a major mechanism for transcriptome and proteome diversity in higher eukaryotes, yet its evolution is poorly understood. Most studies focus on the evolution of exons and introns at the gene level, while only few co ...

Ieee Computer Soc2013

Role of a polymorphism in a Hox/Pax-responsive enhancer in the evolution of the vertebrate spine

Denis Duboule

Patterning of the vertebrate skeleton requires the coordinated activity of Hox genes. In particular, Hox10 proteins are essential to set the transition from thoracic to lumbar vertebrae because of their rib-repressing activity. In snakes, however, the thor ...

Natl Acad Sciences2013

Purpose: Retinitis pigmentosa (RP; MIM 268000) is a hereditary disease characterized by poor night vision and progressive loss of photoreceptors, eventually leading to blindness. This degenerative process primarily affects peripheral vision due to the loss ...

Molecular Vision2013