Whole-exome sequencing analysis in twin sibling males with an anterior cruciate ligament rupture

Caso, Enrique; Maestro, A.; Sabiers, Cristina C.; Godino, M.; Caracuel, Zaira; Pons-Palliser, Joana; Gonzalez, Fernando; Bautista, Rocí­o; Claros, M. Gonzalo; Caso-Onzain, Jaime; Viejo-Allende, Elena; Giannoudis, Peter V.; Álvarez, Sara; Maietta, Paolo; Guerado, Enrique

doi:10.1016/s0020-1383(16)30605-2

Cited by 19 publications

(14 citation statements)

References 48 publications

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“…Zhou et al found that KIF26A worked as a microtubule-stabilizing factor in enteric neurons by directly binding and inhibiting Grb2/SHC complex formation, thereby disrupting Ret tyrosine kinase activation and subsequent signaling of ERK1/2 and phosphatidylinositol-3 kinase (PI3K) pathways ( 6 ). Caso et al demonstrated that KIF26A was associated with anterior cruciate ligament non-contact injury ( 7 ).…”

Section: Discussionmentioning

confidence: 99%

E2F1 Induces KIF26A Transcription and Promotes Cell Cycle Progression via CDK–RB–E2Fs Feedback Loop in Breast Cancer

Liu

et al. 2021

Front. Oncol.

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ObjectiveThe aim of this study was to investigate the role of KIF26A in breast cancer.MethodqRT-PCR and immunohistochemistry were conducted to explore KIF26A expression and functional contribution to breast cancer development. MTS, EDU, colony formation assays, and flow cytometry analysis were conducted to assess cell proliferation characteristics and cell cycle progression. A series of 5′-flanking region deletion plasmids and mutating the binding site, with the luciferase reporter assay, were used to identify the core promotor region of KIF26A. The prediction by software and construction of the transcriptional factor plasmids were used to identify the transcriptional factor. Chromatin immunoprecipitation assay could demonstrate transcriptional factor directly binding to the KIF26A promoter. Human Genome Oligo Microarray Assay and gene ontology (GO) and pathway analyses were used to predict the downstream pathway.ResultsOur results showed that in breast cancer tissues, elevated KIF26A expression was significantly correlated with lymph node metastasis. KIF26A could promote proliferation and G0/G1 phase cell cycle progression in breast cancer cells. The core promoter region of the human KIF26A gene was located upstream of the transcription start site at position −395 to −385. The transcriptional factor E2F1 was shown to activate KIF26A expression. Furthermore, KIF26A was shown to inhibit the expression of p21, then activate CDK–RB–E2Fs pathway. The elevated E2F1 can activate the cell cycle progression and the KIF26A expression, forming feedback loop.ConclusionsThe present study demonstrated that KIF26A, directly upregulated by E2F1, promoted cell proliferation and cell cycle progression via CDK–RB–E2Fs feedback loop in breast cancer.

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Section: Discussionmentioning

confidence: 99%

E2F1 Induces KIF26A Transcription and Promotes Cell Cycle Progression via CDK–RB–E2Fs Feedback Loop in Breast Cancer

Liu

et al. 2021

Front. Oncol.

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“…Studies showed a relationship between ACL injury and genes of different types of collagen, such as collagen type III ( COL3A1 ),18 19 type V ( COL5A1 ),18 20 21 type XII ( COL12A1 ),18 22 type XIV ( COL14A1 )21 and type XV ( COL15A1 ) 21…”

Section: Introduction and Basic Sciencementioning

confidence: 99%

Genetic and molecular factors and anterior cruciate ligament injuries: current concepts

2017

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“…This case allowed for the comparison of two patients with a similar skeleton, age, height, weight, and genetic features. Caso et al performed whole gene exome sequencing on twin brothers that both sustained ACL injuries, as well as their parents [19]. It was not noted if these twins were monozygotic or dizygotic.…”

Section: Discussionmentioning

confidence: 99%

“…Eleven variants shared by family members were found to be associated with a noncontact ACL injury. However, the variants studied account for only a small number of the genes involved in the biology of the ACL [15,19]. On the contrary, a systematic review by Kaynak et al found conflicting evidence for some of the genetic variants identified by Caso et al and evidence was insufficient to conclude if and which genetic variants had a role in ACL rupture [15].…”

Section: Discussionmentioning

confidence: 99%

Seeing Double: A Case of ACL Tears in Monozygotic Twin Female Athletes Within 48 Hours

Pelkowski

DeMatas

McCoy

et al. 2020

Cureus

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Anterior cruciate ligament (ACL) injuries are a serious issue for young athletes. These injuries are devastating and costly, leading to significant time away from sports, and substantial financial cost. A case is presented in which monozygotic twin sisters sustained ACL injuries within 48 hours of one another. Limited research is available studying twins with ACL tears and the risk factors associated with them. This is the first reported case of monozygotic sisters that are high-level athletes with ACL tears in such close proximity to one another. Enhanced knowledge of genetic contribution to ACL injuries is important to better understand predisposing factors and to develop preventative approaches. More research is needed to support a distinct association between ACL rupture and genetic variants.

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Whole-exome sequencing analysis in twin sibling males with an anterior cruciate ligament rupture

Cited by 19 publications

References 48 publications

E2F1 Induces KIF26A Transcription and Promotes Cell Cycle Progression via CDK–RB–E2Fs Feedback Loop in Breast Cancer

E2F1 Induces KIF26A Transcription and Promotes Cell Cycle Progression via CDK–RB–E2Fs Feedback Loop in Breast Cancer

Genetic and molecular factors and anterior cruciate ligament injuries: current concepts

Seeing Double: A Case of ACL Tears in Monozygotic Twin Female Athletes Within 48 Hours

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