highlights

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

The Anthropology Unit makes the cover of "G3"

A study from Estella Poloni’s group: Did controlled use of fire impact the evolution of human genomic diversity ?

events

The neogene history of the Andes-Amazonian system following the humboldtian approach

25.10.2019 12:00, Salle de conférence (Museum of Natural History)

Carina HOORN (University of Amsterdam).
hosted by: Isabel Blasco.

Research

Our department hosts 12 research laboratories gathering close to 200 scientists, engineers and technical staff. Research topics cover a large variety of topics, such as developmental genetics and neurogenetics, regeneration, evo-devo, physics of biology, phylogenetics or anthropology.

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Education

Teaching life sciences at the University of Geneva is an important duty for all staff scientists. In addition to the bachelor programme, we also propose specific masters and PhD specialisations through various programmes.

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contact

Department of Genetics and Evolution
Quai Ernest-Ansermet, 30
1205 Geneva
Switzerland

office: 4002A
T: +41 22 379 67 85

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