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A study uses targeted capture and next-generation sequencing to identify the gene which causes nonsyndromic deafness DFNB79. Results reveal that a nonsense mutation in the gene C9orf75, also called TPRN, which encodes the protein taperin, is responsible for the nonsyndromic deafness DFNB79.

A study identifies mutations in the Grxcr1 (glutaredoxin cysteine-rich 1) gene as the basis for inner ear dysfunction in the pirouette mouse. Experiments reveal that the mutations result in an abnormal cytoskeletal architecture of the stereocilia of sensory hair cells in the inner ear, the precise architecture of which is essential for normal hearing.

A study analyzes the molecular basis of DFNB73 in order to investigate BSND gene mutations that cause Bartter syndrome type IV, characterized by severe renal abnormalities and deafness. Experiments identify a BSND mutation (p.I12T) which selectively affects barttin functioning and causes nonsyndromic deafness, thereby highlighting that different types of BSND mutations can cause syndromic or nonsyndromic deafness in people with Bartter syndrome.

The claudin family of genes encode protein components of cochlear duct tight junctions, which serve as structural support for the auditory neuroepithelium. Mutations in the claudin14 gene cause nonsyndromic recessive deafness DFNB29.

Highlights • PP2ACɑ deficiency impairs early brain development. • PP2ACɑ positively regulates the growth of neuronal stem cell. • PP2ACɑ interacts with ATM and ATR in response to DNA damage. • ATM and ATR activate the P53/HIPK2/HIC1 regulation loop. • HIC1 transcriptional regulates HIPK2 gene expression. Abstract The role of protein phosphatase 2ACα (PP2ACα) in brain development is poorly understood. To understand the function of PP2ACα in neurogenesis, we inactivated P p2 acα gene in the central nervous system (CNS) of mice by Cre/LoxP system and generated the PP2ACα deficient mice (designated as the P p2 acα −/− mice). PP2ACα deletion results in DNA damage in neuroprogenitor cells (NPCs), which impairs memory formation and cortical neurogenesis. We first identify that PP2ACα can directly associate with Ataxia telangiectasia mutant kinase (ATM) and Ataxia telangiectasia/Rad3-related kinase (ATR) in neocortex and NPCs. Importantly, the P53 and hypermethylated in cancer 1 (HIC1) function complex, the newly found down-stream executor of the ATR/ATM cascade, will be translocated into nuclei and interact with homeodomain interacting protein kinase 2 (HIPK2) to respond to DNA damage. Notably, HICI plays a direct transcriptional regulatory role in HIPK2 gene expression. The interplay among P53, HIC1 and HIPK2 maintains DNA stability in neuroprogenitor cells. Taken together, our findings highlight a new role of PP2ACα in regulating early neurogenesis through maintaining DNA stability in neuroprogenitor cells. The P53/HIC/HIPK2 regulation loop, directly targeted by the ATR/ATM cascade, is involved in DNA repair in neuroprogenitor cells. [ABSTRACT FROM AUTHOR]

Retraction notice to "PP2AC deficiency impairs early cortical development through inducing DNA damage in neuroprojenitor cells" [Int. J. Biochem. The University of Macau states that Bo Liu is not affiliated with the University of Macau. Lin Lin confirmed the affiliation with The University of California Riverside; Chu-Xia Deng confirmed the affiliation with the University of Macau; Wei-Min Tong confirmed the affiliation with the Chinese Academy of Medical Sciences. [Extracted from the article]