COLEC10 is mutated in 3MC patients and regulates early craniofacial development

Munye, Mustafa M.; Dı́az-Font, Anna; Ocaka, Louise; Henriksen, Maiken L; Lees, Melissa; Brady, Angela; Jenkins, Dagan; Morton, Jenny; Hansen, Søren; Bacchelli, Chiara; Beales, Philip L.; Hernández, Víctor

doi:10.1371/journal.pgen.1006679

Cited by 70 publications

(86 citation statements)

References 28 publications

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“…11 Upon binding, CL-11, in complex with mannose binding lectin (MBL)-associated serine protease 2 (MASP-2), activates complement. 20,21 Work on mouse models of native and transplant kidney I/R injury has shown a key role for the complement system. 13 3MC (Malpuech-Michels-Mingarelli-Carnevale) syndrome is a rare human disease comprising a variety of developmental abnormalities, such as cleft lip and/or palate, facial dysmorphia, and craniosynostosis, among other features.…”

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confidence: 99%

l‐Fucose prevention of renal ischaemia/reperfusion injury in Mice

et al. 2019

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In a recent study, we identified a fucosylated damage‐associated ligand exposed by ischemia on renal tubule epithelial cells, which after recognition by collectin‐11 (CL‐11 or collectin kidney 1 (CL‐K1)), initiates complement activation and acute kidney injury. We exploited the ability to increase the local tissue concentration of free l‐fucose following systemic administration, in order to block ligand binding by local CL‐11 and prevent complement activation. We achieved a thirty‐five‐fold increase in the intrarenal concentration of l‐fucose following an IP bolus given before the ischemia induction procedure ‐ a concentration found to significantly block in vitro binding of CL‐11 on hypoxia‐stressed renal tubule cells. At this l‐fucose dose, complement activation and acute post‐ischemic kidney injury are prevented, with additional protection achieved by a second bolus after the induction procedure. CL‐11−/− mice gained no additional protection from l‐fucose administration, indicating that the mechanism of l‐fucose therapy was largely CL‐11‐dependent. The hypothesis is that a high dose of l‐fucose delivered to the kidney obstructs the carbohydrate recognition site on CL‐11 thereby reducing complement‐mediated damage following ischemic insult. Further work will examine the utility in preventing post‐ischemic injury during renal transplantation, where acute kidney injury is known to correlate with poor graft survival.

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confidence: 99%

l‐Fucose prevention of renal ischaemia/reperfusion injury in Mice

et al. 2019

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“…These 17 new genes found through this process were added to the CRS genes list: AXIN2 (Yilmaz et al, 2018), BBS9 (Justice et al, 2012; Sewda et al, 2019), BCOR (O’Byrne et al, 2017) (for Oculo-facio-cardio-dental syndrome, or microphthalmia syndrome), BGLAP (Sowińska-Seidler et al, 2018), COLEC10 (for 3MC syndrome) (Munye et al, 2017), FGFRL1 (Rieckmann et al, 2009) (for Antley-Bixler syndrome), GCK (for Greig cephalopolysyndactyly syndrome) (Zung et al, 2011), LMNA (Sowińska-Seidler et al, 2018), PPP3CA (Mizuguchi et al, 2018), PTH2R (Kim et al, 2015), RAF1 (for Noonan syndrome with multiple lentigines, or leopard syndrome) (Rodríguez et al, 2019), SIX2 (for frontonasal dysplasia syndrome) (Hufnagel et al, 2016), SMURF1, SPRY1, SPRY4 (Timberlake et al, 2016, 2017), TCOF1 (for Treacher Collins syndrome) (Horiuchi et al, 2004), TNFRSF11B (for Juvenile Paget disease) (Saki et al, 2013).…”

Section: Resultsmentioning

confidence: 99%

A Higher Proportion of Craniosynostosis Genes Are Cancer Driver Genes

Misra

Shih

Yan

et al. 2019

Preprint

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Craniosynostosis (CRS) is a congenital abnormality deformity with a heterogenous genetic contribution. Previously, there are two attempts to collect genes that are genetically associated with craniosynostosis and some related syndromes with 57 (Twigg and Wilkie, 2015) and 39 (Goos and Mathijssen, 2019) genes identified, respectively. We expanded this list of craniosynostosis genes by adding another 17 genes with an updated literature search. These genes are shown to be more likely to be intolerant to functional mutations. Of these 113 craniosynostosis genes, 21 (19% vs. 1.5% baseline frequency) are cancer driver genes, a 14-fold enrichment. The cancer-craniosynostosis connection is further validated by an over-representation analysis of craniosynostosis genes in KEGG cancer pathway and several cancer related gene-sets. Many cancer-craniosynostosis overlapping genes participate in intracellular signaling pathways, which play a role in both development and cancer. This connection can be viewed from the oncogenesis recapitulates ontogenesis framework. Nineteen craniosynostosis genes are transcription factor genes (16.8% vs. 8.2% baseline), and craniosynostosis genes are also enriched in targets of certain transcription factors or micro RNAs.

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“…The human embryonic kidney 293 (HEK‐293) cell line is a common tool for biologists to study cell function and molecular regulation (Munye et al., ). Human embryonic palatal mesenchymal (HEPM) cells have been used for the study of palate development (Zhu, Ozturk, Liu, Oakley, & Nawshad, ).…”

Section: Methodsmentioning

confidence: 99%

A functional polymorphism in the pre-miR-146a gene is associated with the risk of nonsyndromic orofacial cleft

Pan

Lou

et al. 2018

Human Mutation

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microRNAs (miRNAs) are widely involved in craniofacial development, and genetic variants of miRNAs may be associated with the risk of nonsyndromic orofacial cleft (NSOC). Here, we systematically selected five single nucleotide polymorphisms (SNPs) of miRNAs and investigated the associations between these variants and NSOC susceptibility in a two-stage case-control study including 1,406 NSOC patients and 1,578 controls from the Chinese population. We found that compared with the C allele, the rs2910164 G allele of pre-miR-146a was associated with an increased risk of NSOC (additive model: odds ratio [OR] = 1.17, 95% confidence interval [CI]: 1.06-1.30, P = 0.002), including both cleft lip with or without cleft palate (CL/P) and cleft palate only (CPO). Bioinformatic prediction and functional assays revealed that the C allele of rs2910164 was significantly associated with inhibited HEK-293 and HEPM cell proliferation and decreased abundance of TRAF6. Both miR-146a and TRAF6 were expressed in the lip tissue samples of NSOC patients, and a moderate inverse correlation was observed between them. Taken together, these results demonstrated that miR-146a/rs2910164 is associated with susceptibility to NSOC, providing novel insights into the genetic etiology and underlying biology of NSOC.

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COLEC10 is mutated in 3MC patients and regulates early craniofacial development

Cited by 70 publications

References 28 publications

l‐Fucose prevention of renal ischaemia/reperfusion injury in Mice

l‐Fucose prevention of renal ischaemia/reperfusion injury in Mice

A Higher Proportion of Craniosynostosis Genes Are Cancer Driver Genes

A functional polymorphism in the pre-miR-146a gene is associated with the risk of nonsyndromic orofacial cleft

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