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Disruption of tuftelin 1, a desmosome associated protein,causesskin fragility, woolly hair and palmoplantar keratoderma

ABSTRACT: Disruption of tuftelin 1, a desmosome associated protein,causesskin fragility, woolly hair and palmoplantar keratoderma

PROVIDER: PRJNA997343 | ENA |

REPOSITORIES: ENA

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			Action	DRS
	SRR25388189.fastq.gz	Fastqsanger.gz
	SRR25388190.fastq.gz	Fastqsanger.gz
	SRR25388191.fastq.gz	Fastqsanger.gz
	SRR25388192.fastq.gz	Fastqsanger.gz
	SRR25388193.fastq.gz	Fastqsanger.gz

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Disruption of tuftelin 1, a desmosome associated protein,causesskin fragility, woolly hair and palmoplantar keratoderma

Project description:Desmosomes are dynamic complex protein structures involved in cellular adhesion. Disruption of these structures by loss of function variants in desmosomal genes lead to a variety of skin and heart related phenotypes. Here, we report tuftelin 1 as a desmosome-associated protein, implicated in epidermal integrity. In two siblings with mild skin fragility, woolly hair and mild palmoplantar keratoderma, but without a cardiac phenotype, we identified a homozygous splice site variant in the TUFT1 gene, leading to aberrant mRNA splicing and loss of tuftelin 1 protein. Patients’ skin and keratinocytes showed acantholysis, perinuclear retraction of intermediate filaments, and reduced mechanical stress resistance. Immunolabeling and transfection studies showed that tuftelin 1 is positioned within the desmosome and its location dependent on the presence of the desmoplakin carboxy-terminal tail. A Tuft1 knock-out mouse model mimicked the patients’ phenotypes. Altogether, this study reveals tuftelin 1 as a desmosome-associated protein, whose absence causes skin fragility, woolly hair and palmoplantar keratoderma.

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Keratin 9 regulates mechanosensitive YAP1 signaling in palmoplantar epidermis

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