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Dwarfism in Friesian horses

ABSTRACT: Hypermobility and short stature in Friesian horses is associated with an Ehlers-Danlos linkeropathy splice site mutation in B4GALT7.

PROVIDER: PRJEB13863 | ENA |

REPOSITORIES: ENA

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			Action	DRS
	ERR1397960.fastq.gz	Fastqsanger.gz
	ERR1397960_1.fastq.gz	Fastqsanger.gz
	ERR1397960_2.fastq.gz	Fastqsanger.gz
	ERR1397961.fastq.gz	Fastqsanger.gz
	ERR1397961_1.fastq.gz	Fastqsanger.gz

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Transcriptome profiles of monocytes of Periodontal Ehlers–Danlos Syndrome patients

Project description:Periodontal Ehlers–Danlos syndrome (pEDS) is a rare, distinct hereditary disorder characterized by early onset periodontal destruction, tissue fragility and joint hypermobility. pEDS is caused by mutant variants of C1R (and C1S) genes, which encode the C1s (and C1s) subunits of the first component of the classical complement pathway. Abberant serine protease activation will result in C4 cleavage and local complement cascade activation, as well as other possible consequences. Although multiple studies have investigated the genetic variant analysis of pEDS, the transcriptome profiles of pEDS remain unknown. To better understand the pathomechanism underlying the clinical manifestation of pEDS and to identify novel molecular targets that may expand treatment strategies, our study performed transcriptome profiling by RNA sequencing of patient-derived monocytes from 2 pEDS patients and 3 normal controls. Genes related to periodontal host defense, inflammatory response, skin disease and vascular development were significantly enriched. Furthermore, we identified genes that may be involved in the pathogenesis of periodontal destruction and pretibial pigmentation of pEDS. Overall, our study presents the first pEDS transcriptomics data, revealing distinct molecular features in monocytes of periodontal Ehlers–Danlos syndrome, and serves as a tool to better understand the disease.

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