DRC3

Last update 08 May 2025

Basic Info

Synonyms

CFAP134, DKFZP586M1120, DRC3

+ [3]

Introduction

Component of the nexin-dynein regulatory complex (N-DRC) a key regulator of ciliary/flagellar motility which maintains the alignment and integrity of the distal axoneme and regulates microtubule sliding in motile axonemes.

100 Clinical Results associated with DRC3

100 Translational Medicine associated with DRC3

0 Patents (Medical) associated with DRC3

Literatures (Medical) associated with DRC3

01 Sep 2024·American Journal of Physiology-Lung Cellular and Molecular Physiology

Obesity impairs ciliary function and mucociliary clearance in the murine airway epithelium

Article

Author: Ohta, Isao ; Furuhashi, Kazuki ; Hozumi, Hironao ; Inui, Naoki ; Suda, Takafumi ; Setou, Mitsutoshi ; Enomoto, Noriyuki ; Suzuki, Tetsuro ; Takaku, Yasuharu ; Suzuki, Yuzo ; Yasui, Hideki ; Inoue, Yusuke ; Yazawa, Shusuke ; Ito, Masahiko ; Karayama, Masato ; Tanaka, Yuko ; Fujisawa, Tomoyuki

Our study shows that obesity impairs airway mucociliary clearance (MCC), an essential physical innate defense mechanism for viral infection. Mechanically, this is likely due to the obesity-induced downregulation of cilia-related genes and attenuation of extracellular ATP release. This study provides novel insights into the mechanisms driving the higher susceptibility and severity of viral respiratory infections in individuals with obesity.

01 Aug 2024·Journal of Human Genetics

Homozygous variant in DRC3 (LRRC48) gene causes asthenozoospermia and male infertility

Article

Author: Xu, Jinyan ; Wang, Jinyu ; Li, Fuping ; Liu, Shanling ; Qin, Jiao ; Chen, Jianhai ; Deng, Dong

Human infertility affects 10-15% of couples. Asthenozoospermia accounts for 18% of men with infertility and is a common male infertility phenotype. The nexin-dynein regulatory complex (N-DRC) is a large protein complex in the sperm flagellum that connects adjacent doublets of microtubules. Defects in the N-DRC can disrupt cilia/flagellum movement, resulting in primary ciliary dyskinesia and male infertility. Using whole-exome sequencing, we identified a pathological homozygous variant of the dynein regulatory complex subunit 3 (DRC3) gene, which expresses leucine-rich repeat-containing protein 48, a component of the N-DRC, in a patient with asthenozoospermia. The variant ENST00000313838.12: c.644dup (p. Glu216GlyfsTer36) causes premature translational arrest of DRC3, resulting in a dysfunctional DRC3 protein. The patient's semen count, color, and pH were normal according to the reference values of the World Health Organization guidelines; however, sperm motility and progressive motility were reduced. DRC3 protein was not detected in the patient's sperm and the ultrastructure of the patient's sperm flagella was destroyed. More importantly, the DRC3 variant reduced its interaction with other components of the N-DRC, including dynein regulatory complex subunits 1, 2, 4, 5, 7, and 8. Our data not only revealed the essential biological functions of DRC3 in sperm flagellum movement and structure but also provided a new basis for the clinical genetic diagnosis of male infertility.

01 Jan 2022·BioMed Research InternationalQ3 · BIOLOGY

The Significance of Tumor Microenvironment Score for Breast Cancer Patients

Q3 · BIOLOGY

ArticleOA

Author: Li, Ran ; Tian, Yuan ; Zhang, Ye ; Wang, Jingnan ; Wen, Qing ; Su, Guohai ; Gao, Aiqin ; Sun, Yuping ; Huang, Alan

Purpose. This study was designed to clarify the prognostic value of tumor microenvironment score and abnormal genomic alterations in TME for breast cancer patients. Method. The TCGA‐BRCA data were downloaded from TCGA and analyzed with R software. The results from analyses were further validated using the dataset from GSE96058, GSE124647, and GSE25066. Results. After analyzing the TCGA data and verifying it with the GEO data, we developed a TMEscore model based on the TME infiltration pattern and validated it in 3273 breast cancer patients. The results suggested that our TMEscore model has high prognostic value. TME features with the TMEscore model can help to predict breast cancer patients’ response to immunotherapy and provide new strategies for breast cancer treatment. Signature 24 was first found in breast cancer. In focal SCNAs, a total of 95 amplified genes and 169 deletion genes in the TMEscore high group were found to be significantly related to the prognosis of breast cancer patients, while 61 amplified genes and 174 deletion genes in the TMEscore low group were identified. LRRC48, CFAP69, and cg25726128 were first discovered and reported to be related to the survival of breast cancer patients. We identified specific mutation signatures that correlate with TMEscore and prognosis. Conclusion. TMEscore model has high predictive value regarding prognosis and patients’ response to immunotherapy. Signature 24 was first found in breast cancer. Specific mutation signatures that correlate with TMEscore and prognosis might be used for providing additional indicators for disease evaluation.

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DRC3

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