événements et news

publications

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

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 inversions misregulating HOXD genes are responsible for mesomelic dysplasia of the upper and lower limbs. By aCGH, whole-genome mate-pair sequencing, long-range PCR and fiber fluorescent in situ hybridization, we studied patients from two families displaying mesomelic dysplasia limited to the upper limbs. We identified microduplications including the HOXD cluster and showed that microduplications were in an inverted orientation and inserted between the HOXD cluster and the telomeric enhancers. Our results highlight the existence of an autosomal dominant condition consisting of isolated ulnar dysplasia caused by microduplications inserted between the HOXD cluster and the telomeric enhancers. The duplications likely disconnect the HOXD9 to HOXD11 genes from their regulatory sequences. This presumptive loss-of-function may have contributed to the phenotype. In both cases, however, these rearrangements brought HOXD13 closer to telomeric enhancers, suggesting that the alterations derive from the dominant-negative effect of this digit-specific protein when ectopically expressed during the early development of forearms, through the disruption of topologically associating domain structure at the HOXD locus.

news

Ivan Rodriguez and Alan Carleton just received an ERC Synergy Grant

The project aims at exploring the function and dysfunction of the claustrum, a poorly understood neural structure in the mamalian brain.

événements

Organelle communication-keeping connected through membrane contact sites

19.11.2019 11:00, A150 (Sciences II)

Maya Schuldiner (Weizmann Institute of Sciences, Israel).
organisé par: Howard Riezman.

Recherche

Notre département regroupe 12 laboratoires de recherche employant un total de presque 200 scientifiques, ingénieurs et techniciens. Les sujets de recherche de ces laboratoires vont de la génétique du développement à la régénération en passant par l'evo-devo, la biologie physique, phylogénétique, la systématique et l'anthropologie.

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Education

Nos professeurs et enseignants participe directement à l'enseignement des sciences de la vie à l'Université de Genève. Nous proposons aussi des spécialisations aux étudiants en master et aux doctorants à travers divers programmes.

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Département de Génétique et Evolution
Quai Ernest-Ansermet, 30
1205 Genève
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bureau: 4002A
T: +41 22 379 67 85

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