Inactive rhomboid proteins RHBDF1 and RHBDF2 (iRhoms): a decade of research in murine models

Burzenski, Lisa M.; Low, Benjamin E.; Kohar, Vivek; Shultz, Leonard D.; Wiles, Michael V.; Hosur, Vishnu

doi:10.1007/s00335-021-09910-3

Cited by 4 publications

(1 citation statement)

References 45 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Since the role of Rhomboid proteins was first demonstrated in the Drosophila EGF signaling pathway [ 46 , 53 ], the most characterized function of Rhomboid proteases conserved through organisms, including bacteria, animals and plants, is the proteolytic cleavage of membrane proteins [ 30 , 31 , 54 ]. Later, this family of proteins was implicated in diverse cellular processes, including protein homeostasis, viral susceptibility, mitochondria membrane fusion and parasite–host interaction [ 34 , 39 , 40 , 55 , 56 , 57 , 58 , 59 , 60 ]. The genetic and biochemical data presented in this study suggest that KOM acts not as a Rhomboid protease but as a member of the growing sub-family of proteolytically inactive Rhomboid-like proteins ( Supplementary Figure S3 ) [ 61 ].…”

Section: Discussionmentioning

confidence: 99%

KOMPEITO, an Atypical Arabidopsis Rhomboid-Related Gene, Is Required for Callose Accumulation and Pollen Wall Development

Kanaoka

Shimizu

Xie

et al. 2022

IJMS

View full text Add to dashboard Cite

Fertilization is a key event for sexually reproducing plants. Pollen–stigma adhesion, which is the first step in male–female interaction during fertilization, requires proper pollen wall patterning. Callose, which is a β-1.3-glucan, is an essential polysaccharide that is required for pollen development and pollen wall formation. Mutations in CALLOSE SYNTHASE 5 (CalS5) disrupt male meiotic callose accumulation; however, how CalS5 activity and callose synthesis are regulated is not fully understood. In this paper, we report the isolation of a kompeito-1 (kom-1) mutant defective in pollen wall patterning and pollen–stigma adhesion in Arabidopsis thaliana. Callose was not accumulated in kom-1 meiocytes or microspores, which was very similar to the cals5 mutant. The KOM gene encoded a member of a subclass of Rhomboid serine protease proteins that lacked active site residues. KOM was localized to the Golgi apparatus, and both KOM and CalS5 genes were highly expressed in meiocytes. A 220 kDa CalS5 protein was detected in wild-type (Col-0) floral buds but was dramatically reduced in kom-1. These results suggested that KOM was required for CalS5 protein accumulation, leading to the regulation of meiocyte-specific callose accumulation and pollen wall formation.

show abstract

Section: Discussionmentioning

confidence: 99%

KOMPEITO, an Atypical Arabidopsis Rhomboid-Related Gene, Is Required for Callose Accumulation and Pollen Wall Development

Kanaoka

Shimizu

Xie

et al. 2022

IJMS

View full text Add to dashboard Cite

show abstract

Analysis of the function of ADAM17 in iRhom2 curly-bare and tylosis with esophageal cancer mutant mice

Rabinowitsch

Maretzky

Weskamp

et al. 2023

Journal of Cell Science

View full text Add to dashboard Cite

Tylosis with Oesophageal Cancer (TOC), is a rare familial disorder caused by cytoplasmic mutations in inactive rhomboid 2 (iR2). iR2 and the related iR1 are key regulators of the membrane-anchored metalloprotease ADAM17, which is required for activating EGFR ligands and for releasing pro-inflammatory cytokines such as TNFa. A cytoplasmic deletion in iR2, including the TOC site, leads to curly whiskers and bare skin (cub) in mice, whereas a knock-in TOC mutation causes less severe alopecia and wavy fur. The abnormal skin and hair phenotypes of iR2cub/cub and iR2toc/toc mice depend on amphiregulin and ADAM17, since loss of one allele of either gene rescues the fur phenotypes. Remarkably, iR1-/-iR2cub/cub mice survive, despite a lack of mature ADAM17, whereas iR2cub/cubAdam17-/-mice die perinatally, suggesting that the iR2cub gain-of-function mutation requires the presence of ADAM17, but not its catalytic activity. iR2toc does not substantially reduce the levels of mature ADAM17, but instead affects its function in a substrate selective manner. Our findings provide new insights into the role of the cytoplasmic domain of iR2 in vivo, with implications for the treatment of TOC patients.

show abstract

Identification and characterization of extrachromosomal circular DNA in Wei and Large White pigs by high-throughput sequencing

Wen

Zhang²,

Xu³

et al. 2023

Front. Vet. Sci.

View full text Add to dashboard Cite

Wei pig (WP) and Large White pig (LP) are fatty and lean breeds, respectively. Extrachromosomal circular DNA (eccDNA) plays an important role in regulating signaling pathway processes of cell. However, there are few reports regarding the eccDNA and ecDNA profiles in WP and LP. The present work aimed to investigate the eccDNA and ecDNA profiles between WP and LP. Three WPs and three LPs (100 ± 1.3 kg) were selected for analysis of eccDNA and ecDNA in the ear samples. Results showed that there were 39,686,953,656–58,411,217,258 and 53,824,168,657–58,311,810,737 clean data for WP and LP, respectively. Sequencing yielded 15,587–25,479 and 71,123–79,605 eccDNAs from the ear samples of WP and LP, respectively. There were 15,111 and 22,594 eccDNA-derived genes in the WP and LP, respectively, and 13,807 eccDNA-derived genes were common in the ear samples of both pigs. Sequencing yielded 13–19 and 27–43 ecDNAs in the ears of WP and LP, respectively. There were 1,005 and 1,777 ecDNA-derived genes in WP and LP, respectively, and 351 ecDNA-derived genes were common in the ear samples of both pigs. The most significant KEGG pathways of eccDNA-derived genes were axon guidance, focal adhesion, metabolic pathways, MAPK signaling pathway, Hedgehog signaling pathway, microRNAs in cancer, tight junction, phospholipase D signaling pathway, endocytosis, and sphingolipid signaling pathway. Furthermore, the most significant KEGG pathways of ecDNA-derived genes were olfactory transduction, B cell receptor signaling pathway, and chemical carcinogenesis. The eccDNA00044301 was lower abundance, while the ecDNA00000060 was higher abundance in WP compared with that in LP. Summary, we found that eccDNAs and ecDNAs are common in WP and LP and occur in sizes large enough to carry one or several partial or complete genes. These findings have expanded the knowledge repertoire of circular DNA in pig and will provide a reference for the use of pigs as a medical model and help discovery of new genetic markers to select high-quality breeds.

show abstract

Inactive rhomboid proteins RHBDF1 and RHBDF2 (iRhoms): a decade of research in murine models

Cited by 4 publications

References 45 publications

KOMPEITO, an Atypical Arabidopsis Rhomboid-Related Gene, Is Required for Callose Accumulation and Pollen Wall Development

KOMPEITO, an Atypical Arabidopsis Rhomboid-Related Gene, Is Required for Callose Accumulation and Pollen Wall Development

Analysis of the function of ADAM17 in iRhom2 curly-bare and tylosis with esophageal cancer mutant mice

Identification and characterization of extrachromosomal circular DNA in Wei and Large White pigs by high-throughput sequencing

Contact Info

Product

Resources

About