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Modelling erythropoiesis in congenital dyserythropoietic anaemia type I (CDA-I) for diagnosis and molecular dissection.

ABSTRACT: Modelling erythropoiesis in congenital dyserythropoietic anaemia type I (CDA-I) for diagnosis and molecular dissection.

PROVIDER: PRJNA515475 | ENA |

REPOSITORIES: ENA

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			Action	DRS
	SRR8447920_1.fastq.gz	Fastqsanger.gz
	SRR8447920_2.fastq.gz	Fastqsanger.gz
	SRR8447930_1.fastq.gz	Fastqsanger.gz
	SRR8447930_2.fastq.gz	Fastqsanger.gz
	SRR8447940_1.fastq.gz	Fastqsanger.gz

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Modelling erythropoiesis in congenital dyserythropoietic anaemia type I (CDA-I) for diagnosis and molecular dissection.

Project description:Congenital Dyserythropoietic Anaemia type 1 (CDA-I) is an inherited anaemia arising primarily from mutations in C15orf41 and CDAN1, however the molecular mechanisms that cause the disease remain to be fully elucidated. We use an in vitro culture system to study multiple stages of erythropoiesis from CD34+ progenitors of patients with CDA-I. Applying a number of techniques, including ATAC-seq, we show that differentiation of CDA-I patient erythroblasts closely matches that of healthy donors during the early and intermediate stages of erythroid differentiation and maturation. However, a defect in terminal erythropoiesis can be observed in the CDA-I patient derived erythroblasts, resulting in a reduction in the number of enucleated erythroid cells.

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Project description:Genome Wides Association Studies (GWAS) have identified tens of thousands of associations between human genetic variation and common disease. Despite the abundance of GWAS associations, functional identification and characterization of causative variants and effector genes remains a challenging prospect. Human erythropoiesis provides a highly tractable model system for the development of tools for GWAS analysis. We have developed a three-phase protocol for differentiation of peripheral CD34+ Haematopoietic Stem Cells (HSC) into mature enucleating erythrocytes. This protocol has been characterized for it’s the changes observed morphologically, immunologically (by FACS) and epigenetically (by ATAC-seq, ChIP-seq, and RNA-seq). We have used this protocol to study the effects of common GWAS variants affecting red blood cell traits, and more severe mutations causing Type-1 Congenital Dyserythropoietic Anemia (CDA-I).

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