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Publications associées (15)
Live Birth of a Healthy Child in a Couple with Identical mtDNA Carrying a Pathogenic c.471_477delTTTAAAAinsG Variant in the MOCS2 Gene
Valeriia Timonina, Konstantin Popadin
Molybdenum cofactor deficiency type B (MOCODB; #252160) is an autosomal recessive metabolic disorder that has only been described in 37 affected patients. In this report, we describe the presence of an in-frame homozygous variant (c.471_477delTTTAAAAinsG) ...
MDPI2023KRAB zinc finger protein-mediated control of transposon-embedded regulatory sequences from human germline to early embryos
Transposable elements (TEs), also called jumping genes, are genetic elements capable of changing their position within the genome of their host. They make up large fractions of genomes, including 45% of human DNA content, according to current estimates.
S ...
EPFL2021Barcoding analysis and taxonomic revision of Goliathus Lamarck, 1802 (Scarabaeidae, Cetoniinae)
We conducted barcoding analysis of valid taxa in the genus Goliathus Lamarck, 1802 and clarified their relationships. Specimens of Goliathus goliatus (Drury, 1770) sampled in tropical rainforests from Cameroon to Kenya display degrees of genetic and phenot ...
2020Beyond silence : a functional and evolutionary study of KRAB zinc finger proteins
Pierre-Yves Joseph Laurent Helleboid
Transposable elements (TEs) are genetic units capable of spreading within the genomes of their host. TEs contribute a readily recognizable 45% of the human DNA, reflecting in part their co-option for some as source of protein-coding sequences, for others a ...
EPFL2019KRAB zinc-finger proteins contribute to the evolution of gene regulatory networks
Didier Trono, Michaël Imbeault, Pierre-Yves Joseph Laurent Helleboid
The human genome encodes some 350 Kruppel-associated box (KRAB) domain-containing zinc-finger proteins (KZFPs), the products of a rapidly evolving gene family that has been traced back to early tetrapods(1,2). The function of most KZFPs is unknown, but a f ...
Nature Publishing Group2017From the early steps of whisker formation to its evolutionary disappearance: the (curious) case of Prdm1 and its regulation
Whiskers (also known as vibrissae) are sensory organs that are thought to have first appeared in Therapsida, a group of synapsids that includes mammals and evolutionary ancestors like the Thrinaxodon(1). They are highly conserved among mammals to the notab ...
EPFL2016Insight into the evolution and origin of leprosy bacilli from the genome sequence of Mycobacterium lepromatosis
Stewart Cole, Andrej Benjak, Charlotte Avanzi, Philippe Busso, Pushpendra Singh
Mycobacterium lepromatosis is an uncultured human pathogen associated with diffuse lepromatous leprosy and a reactional state known as Lucio's phenomenon. By using deep sequencing with and without DNA enrichment, we obtained the near-complete genome sequen ...
National Academy of Sciences2015