Autosomal dominant mutation in COL7A1 gene causing epidermolysis bullosa dystrophica

Sheth, Jayesh; Mistri, Mehul; Patel, Harsh; Ankleshwaria, Chitra; Parikh, Aradhana

doi:10.1186/1755-8166-7-s1-p58

Cited by 3 publications

(3 citation statements)

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“…CO7A1 is a fibril that joins the external epithelia to underling stroma ( 45 ). This protein has been shown to be upregulated after addition of TNF-α in cultured fibroblasts ( 46 ), which suggests that fibroblasts can produce CO7A1.…”

Section: Resultsmentioning

confidence: 99%

Analysis of Human Faecal Host Proteins: Responsiveness to 10-Week Dietary Intervention Modifying Dietary Protein Intake in Elderly Males

et al. 2021

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Faecal proteomics targeting biomarkers of immunity and inflammation have demonstrated clinical application for the identification of changes in gastrointestinal function. However, there are limited comprehensive analyses of the host faecal proteome and how it may be influenced by dietary factors. To examine this, the Homo sapiens post-diet proteome of older males was analysed at the completion of a 10-week dietary intervention, either meeting the minimum dietary protein recommendations (RDA; n = 9) or twice the recommended dietary allowance (2RDA, n = 10). The host faecal proteome differed markedly between individuals, with only a small subset of proteins present in ≥ 60% of subjects (14 and 44 proteins, RDA and 2RDA, respectively, with only 7 common to both groups). No differences were observed between the diet groups on the profiles of host faecal proteins. Faecal proteins were detected from a wide range of protein classes, with high inter-individual variation and absence of obvious impact in response to diets with markedly different protein intake. This suggests that well-matched whole food diets with two-fold variation in protein intake maintained for 10 weeks have minimal impact on human faecal host proteins.

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Section: Resultsmentioning

confidence: 99%

Analysis of Human Faecal Host Proteins: Responsiveness to 10-Week Dietary Intervention Modifying Dietary Protein Intake in Elderly Males

et al. 2021

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“…S10 ). COL7A1 is an anchoring fibril between the external epithelia and the underlying basal lamina 39 . Amino acid mutations in this gene are associated with epidermolysis bullosa, a condition in which tissue fluid diffuses through the intercellular space into the epidermis 39 .…”

Section: Resultsmentioning

confidence: 99%

“…COL7A1 is an anchoring fibril between the external epithelia and the underlying basal lamina 39 . Amino acid mutations in this gene are associated with epidermolysis bullosa, a condition in which tissue fluid diffuses through the intercellular space into the epidermis 39 . In addition, TMPRSS13 , a membrane-anchored serine protease gene 41 , is highly expressed in rumen compared to esophagus ( Supplementary Table 18 ).…”

Section: Resultsmentioning

confidence: 99%

Tracing the origin of a new organ by inferring the genetic basis of rumen evolution

Pan

Wang

et al. 2020

Preprint

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36The rumen is the hallmark organ of ruminants and hosts a diverse ecosystem of 37 microorganisms that facilitates efficient digestion of plant fibers. We used 897 38 transcriptomes from three Cetartiodactyla lineages: ruminants, camels and cetaceans, 39 as well as data from ruminant comparative genomics and functional assays to explore 40 the genetic basis of rumen origin and evolution. Comparative analyses reveal that the 41 rumen and the first-chamber stomachs of camels and cetaceans shared a common 42 tissue origin from the esophagus. The rumen recruited genes from other tissues/organs 43 and up-regulated many esophagus genes to aquire functional innovations involving 44 epithelium absorption, improvement of the ketone body metabolism and regulation of 45 microbial community. These innovations involve such genetic changes as 46 ruminant-specific conserved elements, newly evolved genes and positively selected 47 genes. Our in vitro experiements validate the functions of one enhancer, one 48 positively selected gene and two newly evolved antibacterial genes. Our study 49 provides novel insights into the origin and evolution of a complex organ. 50 3Evolutionary biology has a long history of trying to understand how complex organs 51 evolve 1 . The origin of some notable organs has been central to animal evolution, e.g. 52 the eyes of animals 2,3 , electric organs of fishes 4 , mammalian placenta 5,6 and ruminant 53 headgear 7 . Another remarkable organ innovation found in mammals are the 54 multi-chambered stomachs found in the Cetartiodactyla lineages, including Tylopoda 55 (e.g. camels), Tayassuidae (e.g. peccaries), Hippopotamidae (e.g. hippos), Cetacea 56 (e.g. whales) and Ruminantia (Fig. 1). Among these, ruminants have the most complex 57 digestive system in herbivores, allowing efficient uptake of nutrients from plant 58 material by providing a microbial fermentation ecosystem in the highly specialized 59 rumen 8 . Camels (Tylopoda) have three-chambered stomachs and are also sometimes 60 called "pseudo-ruminants" due to their similar ruminating behavior and microbial 61 fermentation taking place in their first-chamber (FC) stomach 9 . The whales (Cetacea) 62 form the sister group of the Ruminantia 10 , however the FC of their four-chambered 63 stomach is mainly used as a temporary storage chamber for ingested food and for 64 mechanical grinding of food items 11 . With the rumen, ruminants obtained a unique 65 evolutionary advantage through superior utilization of short chain fatty acids (SCFAs) 66 from microbial fermentation, which significantly promoted the expansion and 67 diversification of ruminant taxa 12 . The evolutionary innovation of the rumen is 68 therefore interesting not only in its functional complexity and uniqueness, but also 69 because it has greatly benefited humans by providing high-quality nutrition in the shape 70 of highly productive ruminant livestock species 13,14 . 71The anatomical predecessor from which the rumen evolved has been proposed to 72 4 be the esophagus 15 , yet the...

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Modes of genetic adaptations underlying functional innovations in the rumen

Pan

Cai

et al. 2020

Sci. China Life Sci.

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Autosomal dominant mutation in COL7A1 gene causing epidermolysis bullosa dystrophica

Cited by 3 publications

References 0 publications

Analysis of Human Faecal Host Proteins: Responsiveness to 10-Week Dietary Intervention Modifying Dietary Protein Intake in Elderly Males

Analysis of Human Faecal Host Proteins: Responsiveness to 10-Week Dietary Intervention Modifying Dietary Protein Intake in Elderly Males

Tracing the origin of a new organ by inferring the genetic basis of rumen evolution

Modes of genetic adaptations underlying functional innovations in the rumen

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