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Genetic characterization of a missense mutation in the X-linked TAF7L gene in an oligozoospermic man

ABSTRACT: Genetic characterization of a missense mutation in the X-linked TAF7L gene in an oligozoospermic man

PROVIDER: PRJNA773241 | ENA |

REPOSITORIES: ENA

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			Action	DRS
	SRR16518279_1.fastq.gz	Fastqsanger.gz
	SRR16518279_2.fastq.gz	Fastqsanger.gz
	SRR16518280.fastq.gz	Fastqsanger.gz
	SRR16518281_1.fastq.gz	Fastqsanger.gz
	SRR16518281_2.fastq.gz	Fastqsanger.gz

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Genetic characterization of a missense mutation in the X-linked TAF7L gene in an oligozoospermic man

Project description:We carried out genome-wide expression profiling by RNA-seq to determine whether the mutation brings about a certain influence to the transcriptomic homeostasis. Indeed, there were some differential expressions of mRNA and noncoding genes in comparison of the Taf7lD144G and wide-type testis, lending support to mutation-caused defects at molecular level.

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Project description:Loss-of-function of the chromatin remodeler CHD7 causes CHARGE syndrome, characterized by variable penetrance and diverse abnormalities. However, establishing genotype-phenotype correlations has been challenging, as most CHD7 inactivating mutations are null alleles. Through CHD7 missense variant analysis at potential phosphorylation sites, we identified T730 (T720 in mice) as a critical residue associated with pathogenesis. Using a CHD7 T730 missense mutation (Chd7T720A) and a frameshift null allele (Chd7fs) in a mouse model, we found that Chd7fs/fs mice were non-viable, while Chd7fs/+ mice exhibited haploinsufficiency-related circling behavior. Notably, Chd7fs/T720A mice died before postnatal day 2, indicating the Chd7T720A allele is hypomorphic. Micro-CT analysis at E18.5 revealed heterozygous mice primarily exhibited hypertrophic cardiomyopathy (HCM), while homozygous mice developed both HCM and dilated cardiomyopathy (DCM). RNA-seq analysis of neonatal Chd7T720A/T720A hearts revealed a disrupted transcriptome, which in males and females was characterized by downregulation of mitochondrial energy metabolism genes and enrichment of ETS family transcription factor targets. We further identified GSK3β, GSK3α, HIPK1, and DYRK2 as candidate kinases for this site, suggesting a regulatory role in CHD7. This missense mutation causing developmental heart abnormalities establishes the first genotype-phenotype correlation for CHD7, and offers new insights into CHARGE syndrome pathogenesis.

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Genetic characterization of a missense mutation in the X-linked TAF7L gene identified in an oligozoospermic man†.

Project description:Although hundreds of knockout mice show infertility as a major phenotype, the causative genic mutations of male infertility in humans remain rather limited. Here, we report the identification of a missense mutation (D136G) in the X-linked TAF7L gene as a potential cause of oligozoospermia in men. The human aspartate (D136) is evolutionally conserved across species, and its change to glycine (G) is predicted to be detrimental. Genetic complementation experiments in budding yeast demonstrate that the conserved aspartate or its analogous asparagine (N) residue in yeast TAF7 is essential for cell viability and thus its mutation to G is lethal. Although the corresponding D144G substitution in the mouse Taf7l gene does not affect male fertility, RNA-seq analyses reveal alterations in transcriptomic profiles in the Taf7l (D144G) mutant testes. These results support TAF7L mutation as a risk factor for oligozoospermia in humans.

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