Diagnostic yield of next-generation sequencing in very early-onset inflammatory bowel diseases: a multicenter study (vol 12, pg 1104, 2021)

Transplantation and immunomodulatio

IBD risk loci are enriched in multigenic regulatory modules encompassing putative causative genes.

GWAS have identified >200 risk loci for Inflammatory Bowel Disease (IBD). The majority of disease associations are known to be driven by regulatory variants. To identify the putative causative genes that are perturbed by these variants, we generate a large transcriptome data set (nine disease-relevant cell types) and identify 23,650 cis-eQTL. We show that these are determined by ∼9720 regulatory modules, of which ∼3000 operate in multiple tissues and ∼970 on multiple genes. We identify regulatory modules that drive the disease association for 63 of the 200 risk loci, and show that these are enriched in multigenic modules. Based on these analyses, we resequence 45 of the corresponding 100 candidate genes in 6600 Crohn disease (CD) cases and 5500 controls, and show with burden tests that they include likely causative genes. Our analyses indicate that ≥10-fold larger sample sizes will be required to demonstrate the causality of individual genes using this approach

Redescription of

In 1908, von Linstow described Oxyuris parallela from a Xerus capensis captured in the Kalahari desert. In 1 909, the same author described Oxyuris polyoon from a Xerussetosus captured in South West Africa. Inglis (1961), studying the syntypes, concluded that the specimens belonged to the same species, which he transferred toEnterobius parallela (Linstow, 1908). After re-description of this species, it appears that these parasites share with the oxyurids in the genus Enterobius a number of morphological characteristics which are common to all the Oxyuridae genera parasites in Primates which consequently does not justify keeping the species in this genus. In addition this species differs from the known species in the genus Enterobius by the following characteristics: pairs 2 and 3 of genital papillae farther from the cloacal opening and surrounded by weak chitinized rings not fusing posterior to cloaca; egg asymmetry less marked; egg non-embryonated and without operculum; lateral alae differently shaped. Finally the parasites of Xerus present original characteristics : genital apparatus prodelphic whereas the general type is amphidelphic; cloacal opening covered by a hood-shaped flap whereas it is a longitudinal slit in all the related taxa; extremity of the spicular pouch protruding from the cloaca; ring-shaped gubernaculum present. Consequently it is proposed to transfer the species to a new genus : Xeroxyuris. The type and only species is Xeroxyuris parallela (Linstow, 1 908), parasite of Xerus inauris in South-Africa

Development and characterization of novel polymorphic microsatellite markers for the endangered Laotian rock-rat (Laonastes aenigmamus) using 454-sequencing technology

https://doi.org/10.1007/s12686-012-9692-8J.L. Pino, M. Ascunce, J.P. Hugot, D. Reed. 2012. Development and characterization of novel polymorphic microsatellite markers for the endangered Laotian rock-rat (Laonastes aenigmamus) using 454-sequencing technology. Conservation Genetics Resources 4:999-1002. https://doi.org/10.1007/s12686-012-9692-