MAK

Last update 23 Jan 2025

Basic Info

Synonyms

dJ417M14.2, MAK, male germ cell associated kinase

+ [3]

Introduction

Essential for the regulation of ciliary length and required for the long-term survival of photoreceptors (By similarity). Phosphorylates FZR1 in a cell cycle-dependent manner. Plays a role in the transcriptional coactivation of AR. Could play an important function in spermatogenesis. May play a role in chromosomal stability in prostate cancer cells.

100 Clinical Results associated with MAK

100 Translational Medicine associated with MAK

0 Patents (Medical) associated with MAK

188

Literatures (Medical) associated with MAK

01 Dec 2024·Molecular Genetics & Genomic Medicine

Screening of Inherited Retinal Disease Patients in a Low‐Resource Setting Using an Augmented Next‐Generation Sequencing Panel

Article

Author: Roberts, Lisa ; Ramesar, Raj ; Rebello, George ; Midgley, Nicole ; Holtes, Lara K.

ABSTRACTBackgroundInherited retinal diseases (IRDs) are a clinically and genetically heterogeneous group of disorders affecting millions worldwide. Despite the widespread adoption of next‐generation sequencing (NGS) panels, there remains a critical gap in the genetically diverse and understudied African populations.MethodsOne hundred and thirty‐five South African patients affected by various IRDs underwent NGS using a custom‐targeted panel sequencing over 100 known genes. The panel was supplemented by in silico screening for a MAK‐Alu insertion and screening of seven functionally established deep intronic variants.ResultsThrough our combined screening strategy, we obtained a probable genetic diagnosis for 56% of the cohort. We identified 83 unique variants in 29 IRD genes underlying the disease, including 16 putative novel variants. Molecular findings prompted recommendations for clinical re‐examination in ten patients. Resolution rates varied across clinical classifications and population groups.ConclusionsThis study reports the first use of a targeted NGS panel for IRDs in southern Africa, demonstrating a cost‐effective, customisable approach that optimises both diagnostic yield and resource efficiency, making it a valuable tool for IRD molecular characterisation in resource‐limited settings. Augmenting the panel by screening for variants relevant to South African patients allowed us to achieve a resolution rate in line with international studies. Our study underscores the importance of investigating diverse populations to bridge disparities in genomic research and improve diagnostic outcomes for underrepresented population groups.

01 Nov 2024·Life Science Alliance

Ccrk-Mak/Ick signaling is a ciliary transport regulator essential for retinal photoreceptor survival

Article

Author: Chaya, Taro ; Ando, Makoto ; Tsutsumi, Ryotaro ; Kajimura, Naoko ; Maeda, Yamato ; Ma, Yujie ; Furukawa, Takahisa ; Tanaka, Teruyuki

Primary cilia are microtubule-based sensory organelles whose dysfunction causes ciliopathies in humans. The formation, function, and maintenance of primary cilia depend crucially on intraflagellar transport (IFT); however, the regulatory mechanisms of IFT at ciliary tips are poorly understood. Here, we identified that the ciliopathy kinase Mak is a ciliary tip-localized IFT regulator that cooperatively acts with the ciliopathy kinase Ick, an IFT regulator. Simultaneous disruption ofMakandIckresulted in loss of photoreceptor ciliary axonemes and severe retinal degeneration. Gene delivery ofIckand pharmacological inhibition of FGF receptors, Ick negative regulators, ameliorated retinal degeneration inMak−/−mice. We also identified that Ccrk kinase is an upstream activator of Mak and Ick in retinal photoreceptor cells. Furthermore, the overexpression of Mak, Ick, and Ccrk and pharmacological inhibition of FGF receptors suppressed ciliopathy-related phenotypes caused by cytoplasmic dynein inhibition in cultured cells. Collectively, our results show that the Ccrk-Mak/Ick axis is an IFT regulator essential for retinal photoreceptor maintenance and present activation of Ick as a potential therapeutic approach for retinitis pigmentosa caused byMAKmutations.

01 Jul 2024·Disease Models & Mechanisms

Male germ cell-associated kinase is required for axoneme formation during ciliogenesis in zebrafish photoreceptors

Article

Author: Masai, Ichiro ; Nishiwaki, Yuko ; Chiang, Hung-Ju ; Chiang, Wei-Chieh

ABSTRACTVertebrate photoreceptors are highly specialized retinal neurons that have cilium-derived membrane organelles called outer segments, which function as platforms for phototransduction. Male germ cell-associated kinase (MAK) is a cilium-associated serine/threonine kinase, and its genetic mutation causes photoreceptor degeneration in mice and retinitis pigmentosa in humans. However, the role of MAK in photoreceptors is not fully understood. Here, we report that zebrafish mak mutants show rapid photoreceptor degeneration during embryonic development. In mak mutants, both cone and rod photoreceptors completely lacked outer segments and underwent apoptosis. Interestingly, zebrafish mak mutants failed to generate axonemes during photoreceptor ciliogenesis, whereas basal bodies were specified. These data suggest that Mak contributes to axoneme development in zebrafish, in contrast to mouse Mak mutants, which have elongated photoreceptor axonemes. Furthermore, the kinase activity of Mak was found to be critical in ciliary axoneme development and photoreceptor survival. Thus, Mak is required for ciliogenesis and outer segment formation in zebrafish photoreceptors to ensure intracellular protein transport and photoreceptor survival.

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