Non-Coding RNAs in Cartilage Development: An Updated Review

Razmara, Ehsan; Bitaraf, Amirreza; Yousefi, Hassan; Nguyen, Tina H.; Garshasbi, Masoud; Cho, William C.; Babashah, Sadegh

doi:10.3390/ijms20184475

Cited by 58 publications

(71 citation statements)

References 188 publications

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“…Bone development is a complex process in which a balance between bone formation and resorption is delicately maintained (Razmara et al, 2019). In fact, osteoblasts and also osteoclasts have an important hand in this process, and any perturbation influencing this procedure causes multitudinous genetic bone diseases ranging from osteoporosis to osteopetrosis (Tanaka, Nakayamada, & Okada, 2005).…”

Section: Discussionmentioning

confidence: 99%

Whole‐exome sequencing identified a novel variant in an Iranian patient affected by pycnodysostosis

Razmara

Azimi²,

Bitaraf

et al. 2020

Molec Gen & Gen Med

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Background Whole‐exome sequencing (WES) has emerged as a successful diagnostic tool in molecular genetics laboratories worldwide. In this study, we aimed to find the potential genetic cause of skeletal disease, a heterogeneous disease, revealing the obvious short stature phenotype. In an Iranian family, we used solo‐WES in a suspected patient to decipher the potential genetic cause(s). Methods A comprehensive clinical and genotyping examination was applied to suspect the disease of the patient. The solo clinical WES was exploited, and the derived data were filtered according to the standard pipelines. In order to validate the WES finding, the region harboring the candidate variant in the CTSK gene was amplified from genomic DNA and sequenced directly by Sanger sequencing. Results Sequence analysis revealed a rare novel nonsense variant, p.(Trp320*); c.905G>A, in the CTSK gene (). In silico analysis shed light on the contribution of the variant to the pathogenicity of pycnodysostosis. This variant was confirmed by Sanger sequencing and further clinical examinations of the patient confirmed the disease. Conclusion The present study shows a rare variant of the CTSK gene, which inherited as autosomal recessive, in an Iranian male patient with pycnodysostosis. Taken together, the novel nonsense CTSK variant meets the criteria of being likely pathogenic according to the American College of Medical Genetics and Genomics‐the Association for Molecular Pathology (ACMG‐AMP) variant interpretation guidelines.

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Section: Discussionmentioning

confidence: 99%

Whole‐exome sequencing identified a novel variant in an Iranian patient affected by pycnodysostosis

Razmara

Azimi²,

Bitaraf

et al. 2020

Molec Gen & Gen Med

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“…However, it is strongly suggested that UCA1 should be playing significant roles in the process of endochondral ossification after chondrogenesis. Currently, it is at least clear that UCA1 is capable of promoting the maturation of proliferating chondrocytes via sponging miR-145 [86]. Indeed, HERV-H produced such a hominid-specific molecule with excessively multiple and context-dependent functions.…”

Section: Human Endogenous Retrovirusesmentioning

confidence: 99%

Retrotransposons Manipulating Mammalian Skeletal Development in Chondrocytes

Kubota

Ishikawa

Kawata

et al. 2020

IJMS

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Retrotransposons are genetic elements that copy and paste themselves in the host genome through transcription, reverse-transcription, and integration processes. Along with their proliferation in the genome, retrotransposons inevitably modify host genes around the integration sites, and occasionally create novel genes. Even now, a number of retrotransposons are still actively editing our genomes. As such, their profound role in the evolution of mammalian genomes is obvious; thus, their contribution to mammalian skeletal evolution and development is also unquestionable. In mammals, most of the skeletal parts are formed and grown through a process entitled endochondral ossification, in which chondrocytes play central roles. In this review, current knowledge on the evolutional, physiological, and pathological roles of retrotransposons in mammalian chondrocyte differentiation and cartilage development is summarized. The possible biological impact of these mobile genetic elements in the future is also discussed.

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“…These reflections have the aim of ruling out misleading approaches, allowing the attribution of specific roles to molecular regulators, such as those supporting the RNA-mediated processes (Raman et al, 2018;Razmara et al, 2019;Zhang et al, 2019).…”

Section: The Joint Of Skeletal System: the Challenge Of Developing Apmentioning

confidence: 99%

“…Abundant examples concerning the description of the expression and role of specific ncRNAs in the homeostasis of bone and cartilage tissues are present in the literature. It is difficult to choose the most significant and for this reason, please refer to recent reviews that gather the most important evidences (Endisha et al, 2018;Razmara et al, 2019;Li et al, 2020). Many of the papers cited in these reviews investigated the mechanism by which a ncRNA acts, by evaluating the variation in the expression of specific differentiation markers and the functionality of the cells following the silencing or overexpression of the ncRNA.…”

Section: Joint Degeneration and Ncrnasmentioning

confidence: 99%