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Automal Random Allelic Expression (aRMAE) analysis in clonally expanded T cells from healthy donors

ABSTRACT: Automal Random Allelic Expression (aRMAE) analysis in clonally expanded T cells from healthy donors

PROVIDER: PRJNA1174789 | ENA |

REPOSITORIES: ENA

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			Action	DRS
	SRR31041800_1.fastq.gz	Fastqsanger.gz
	SRR31041800_2.fastq.gz	Fastqsanger.gz
	SRR31041801_1.fastq.gz	Fastqsanger.gz
	SRR31041801_2.fastq.gz	Fastqsanger.gz
	SRR31041802_1.fastq.gz	Fastqsanger.gz

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Automal Random Allelic Expression (aRMAE) analysis in clonally expanded T cells from healthy donors

Project description:Inborn errors of immunity (IEIs) are genetic disorders that underlie susceptibility to infection, autoimmunity, autoinflammation, allergy, and/or malignancy. Incomplete penetrance is common among IEIs despite their monogenic basis. Herein we investigate the contribution of autosomal random monoallelic expression (aRMAE), a somatic commitment to expression of one allele, to phenotypic variability observed in families with IEIs. Using a clonal primary T cell system to assess aRMAE status of genes in healthy individuals, we find 4.30% of IEI genes and 5.20% of all genes undergo aRMAE. Perturbing H3K27me3 and DNA methylation alters allele expression commitment, supporting two proposed mechanisms for regulation of aRMAE. We tested PBMCs from individuals sharing genetic lesions but with discordant clinical phenotypes in seven families with different IEIs for aRMAE. Among relatives heterozygous for a mutation in PLCG2, an antibody deficiency phenotype corresponds with selective mutant allele expression in B cells. In contrast, among relatives heterozygous for a mutation in JAK1, the unaffected carrier T cells predominantly expressed the wild-type JAK1 allele, while the affected carrier T cells exhibited biallelic expression. Selective expression of a single allele was documented in phenotypically discordant family members carrying an AD Loss-of-function (LoF) mutation in STAT1, CARD11, as well as gain-of-function (GoF) mutations in STAT1. This study highlights the importance of not only considering genotype but also the “transcriptotype” in the analyses of the penetrance and expressivity of monogenic disorders.

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Project description:Genes are generally thought to be expressed from both alleles. There are some exceptions, including Random monoallelic expression (RME), even though its extent is still somewhat debated. We assessed whether and how some autosomal genes that we previously identified as being RME are prone to persistent and stable monoallelic expression. Not only do we confirm the occurrence of RME at large frequencies, our results also reveal unforeseen modes of allelic expression,that appear to be gene specific and epigenetically regulated. This non-canonical allelic regulation has large physiological and pathological implications and represents novel therapeutic perspectives.

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