CE12 - Génétique, génomique et ARN

Molecular Etiology and Epigenetic Landscape of Rahman Syndrome – RAHMAN

Submission summary

Germline frameshift mutations in one of the alleles of the linker histone H1E were causally linked to an as-yet poorly defined syndrome, called Rahman syndrome. Affected individuals exhibit characteristic craniofacial features, hypothyroidism, abnormal dentition, behavioral issues, cryptorchidism, skeletal anomalies, and cardiac anomalies. Limited epigenomic data available on Rahman syndrome patients indicate that the H1E mutations may affect the overall epigenetic landscape of chromatin and several vital nuclear processes, including cell division. Here, we will use a unique combination of powerful structural and epigenomic profiling approaches coupled to cutting-edge molecular and cell biology techniques, including CRISPR/CAS technology, to dissect the origin and evolution of the Rahman syndrome at the molecular level. This work is expected to reveal the intimate mechanism of the detrimental effect of the H1E mutant on chromosome segregation and cell division.

Project coordinator

Monsieur Ali HAMICHE (Institut de génétique et de biologie moléculaire et cellulaire (UM 41 - UMR 7104 - UMR_S 1258))

The author of this summary is the project coordinator, who is responsible for the content of this summary. The ANR declines any responsibility as for its contents.


IGBMC Institut de génétique et de biologie moléculaire et cellulaire (UM 41 - UMR 7104 - UMR_S 1258)
IAB Institut pour l'Avancée des Biosciences

Help of the ANR 625,016 euros
Beginning and duration of the scientific project: September 2021 - 36 Months

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