ijms-logo

Journal Browser

Journal Browser

State-of-the-Art of Molecular Genetics and Genomics in the 21st Century

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Genetics and Genomics".

Deadline for manuscript submissions: 20 January 2025 | Viewed by 3491

Special Issue Editor

Special Issue Information

Dear Colleagues,

The human genome project has changed how medicine and science impact our lives. Canada is one of the leading countries in genomic initiatives and applications in medicine, science, agriculture, and manufacturing. In the 3rd decade of the 21st century, researchers are creating a bold vision for a platform generating solutions to global challenges. Public health agencies, private and public laboratories, Provincial Centers, and non-academic and academic institutions through the Genomics Networks are building solid initiatives for the present and the future. Environmental and economic issues accompany challenges that struggle with health and food supplies. We rely on the vigor of our research community and industry. Molecular genetics and genomics networks are built on a vast interconnection between researchers of different countries.

This Special Issue aims to provide a thorough overview of recent advances in molecular genetics and genomics in the 21st Century by inviting contributions from research institutes/laboratories that consolidate our understanding of this area. International collaborative papers are warmly welcome. In addition, we invite contributions from Canadian and non-Canadian researchers, which may include original research articles, review articles, editorials, and communications that provide insight into any current and future aspect of molecular genetics and genomes. Topics include but are not limited to:

  • Gene regulation, chromatin, and epigenetics;
  • Genome integrity, repair, and replication;
  • Genetic polymorphisms;
  • Microbiome and microbial genetics;
  • Plant genetics and genomics;
  • Agrigenomics and genomic responses to climate change;
  • Animal models and veterinary genomics;
  • Genes or genomes related to phenotypes and physiopathology;
  • Cancer genetics and epigenetics;
  • Pharmacogenetics and pharmacogenomics;
  • Toxicogenomics, nutrigenomics, and neurogenetics;
  • Data management, technology, and analytical developments of genomics;
  • Functional genomics;
  • Transcriptomics and metabolomics;
  • Cytogenetics and single-cell genomics.

Prof. Dr. Consolato M. Sergi
Guest Editor

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. International Journal of Molecular Sciences is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. There is an Article Processing Charge (APC) for publication in this open access journal. For details about the APC please see here. Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Benefits of Publishing in a Special Issue

  • Ease of navigation: Grouping papers by topic helps scholars navigate broad scope journals more efficiently.
  • Greater discoverability: Special Issues support the reach and impact of scientific research. Articles in Special Issues are more discoverable and cited more frequently.
  • Expansion of research network: Special Issues facilitate connections among authors, fostering scientific collaborations.
  • External promotion: Articles in Special Issues are often promoted through the journal's social media, increasing their visibility.
  • e-Book format: Special Issues with more than 10 articles can be published as dedicated e-books, ensuring wide and rapid dissemination.

Further information on MDPI's Special Issue polices can be found here.

Published Papers (3 papers)

Order results
Result details
Select all
Export citation of selected articles as:

Research

17 pages, 6723 KiB  
Article
Elevated LAMTOR4 Expression Is Associated with Lethal Prostate Cancer and Its Knockdown Decreases Cell Proliferation, Invasion, and Migration In Vitro
by Yaser Gamallat, Huseen Alwazan, Rasoul Turko, Vincent Dang, Sima Seyedi, Sunita Ghosh and Tarek A. Bismar
Int. J. Mol. Sci. 2024, 25(15), 8100; https://doi.org/10.3390/ijms25158100 - 25 Jul 2024
Viewed by 756
Abstract
Late endosomal/lysosomal adaptor, MAPK and mTOR, or LAMTOR, is a scaffold protein complex that senses nutrients and integrates growth factor signaling. The role of LAMTOR4 in tumorigenesis is still unknown. However, there is a considerable possibility that LAMTOR4 is directly involved in tumor [...] Read more.
Late endosomal/lysosomal adaptor, MAPK and mTOR, or LAMTOR, is a scaffold protein complex that senses nutrients and integrates growth factor signaling. The role of LAMTOR4 in tumorigenesis is still unknown. However, there is a considerable possibility that LAMTOR4 is directly involved in tumor cell proliferation and metastasis. In the current study, we investigated the protein expression of LAMTOR4 in a cohort of 314 men who were undergoing transurethral resection of prostate (TURP) consisting of incidental, advanced and castration-resistant cases. We also correlated the data with ERG and PTEN genomic status and clinicopathological features including Gleason score and patients’ outcome. Additionally, we performed in vitro experiments utilizing knockdown of LAMTOR4 in prostate cell lines, and we performed mRNA expression assessment using TCGA prostate adenocarcinoma (TCGA-PRAD) to explore the potential differentially expressed genes and pathways associated with LAMTOR4 overexpression in PCa patients. Our data indicate that high LAMTOR4 protein expression was significantly associated with poor overall survival (OS) (HR: 1.44, CI: 1.01–2.05, p = 0.047) and unfavorable cause-specific survival (CSS) (HR: 1.71, CI: 1.06–2.77, p = 0.028). Additionally, when high LAMTOR4 expression was combined with PTEN-negative cases (score 0), we found significantly poorer OS (HR: 2.22, CI: 1.37–3.59, p = 0.001) and CSS (HR: 3.46, CI: 1.86–6.46, p < 0.0001). Furthermore, ERG-positive cases with high LAMTOR4 exhibited lower OS (HR: 1.98, CI: 1.18–3.31, p = 0.01) and CSS (HR: 2.54, CI: 1.32–4.87, p = 0.005). In vitro assessment showed that knockdown of LAMTOR4 decreases PCa cell proliferation, migration, and invasion. Our data further showed that knockdown of LAMTOR4 in the LNCaP cell line significantly dysregulated the β catenin/mTOR pathway and tumorigenesis associated pathways. Inhibiting components of the mTOR pathway, including LAMTOR4, might offer a strategy to inhibit tumor progression and metastasis in prostate cancer. Full article
Show Figures

Figure 1

7 pages, 628 KiB  
Article
Expanding the Phenotypic Spectrum of Pathogenic KIAA0586 Variants: From Joubert Syndrome to Hydrolethalus Syndrome
by Desirée Deconte, Bruna Lixinski Diniz, Jéssica K. Hartmann, Mateus A. de Souza, Laira F. F. Zottis, Paulo Ricardo Gazzola Zen, Rafael F. M. Rosa and Marilu Fiegenbaum
Int. J. Mol. Sci. 2024, 25(14), 7900; https://doi.org/10.3390/ijms25147900 - 19 Jul 2024
Viewed by 599
Abstract
KIAA0586 variants have been associated with a wide range of ciliopathies, mainly Joubert syndrome (JS, OMIM #616490) and short-rib thoracic dysplasia syndrome (SRTD, OMIM #616546). However, the hypothesis that this gene is involved with hydrolethalus syndrome (HSL, OMIM #614120) and orofaciodigital syndrome IV [...] Read more.
KIAA0586 variants have been associated with a wide range of ciliopathies, mainly Joubert syndrome (JS, OMIM #616490) and short-rib thoracic dysplasia syndrome (SRTD, OMIM #616546). However, the hypothesis that this gene is involved with hydrolethalus syndrome (HSL, OMIM #614120) and orofaciodigital syndrome IV (OMIM #258860) has already been raised. Ciliopathies’ clinical features are often overlapped despite differing in phenotype severity. Besides KIAA0586, HYLS1 and KIF7 are also known for being causative of ciliopathies, indicating that all three genes may have similar or converging genomic pathways. Overall, the genotypic and phenotypic spectrum of ciliopathies becomes wider and conflicting while more and more new variants are added to this group of disorders’ molecular pot. In this case report we discuss the first Brazilian individual clinically diagnosed with hydrolethalus syndrome and molecular findings that demonstrate the role of KIAA0586 as a causative gene of a group of genetic disorders. Also, recent reports on individuals with intronic and exonic variants combined leading to ciliopathies support our patient’s molecular diagnosis. At the same time, we discuss variable expressivity and overlapping features in ciliopathies. Full article
Show Figures

Figure 1

14 pages, 5539 KiB  
Article
Cleavage and Polyadenylation-Specific Factor 4 (CPSF4) Expression Is Associated with Enhanced Prostate Cancer Cell Migration and Cell Cycle Dysregulation, In Vitro
by Muhammad Choudhry, Yaser Gamallat, Sunita Ghosh and Tarek A. Bismar
Int. J. Mol. Sci. 2023, 24(16), 12961; https://doi.org/10.3390/ijms241612961 - 19 Aug 2023
Cited by 1 | Viewed by 1400
Abstract
Potential oncogene cleavage and polyadenylation specific factor 4 (CPSF4) has been linked to several cancer types. However, little research has been conducted on its function in prostate cancer (PCa). In benign, incidental, advanced, and castrate resistant PCa (CRPCa) patient samples, protein expression of [...] Read more.
Potential oncogene cleavage and polyadenylation specific factor 4 (CPSF4) has been linked to several cancer types. However, little research has been conducted on its function in prostate cancer (PCa). In benign, incidental, advanced, and castrate resistant PCa (CRPCa) patient samples, protein expression of CPSF4 was examined on tissue microarray (TMAs) of 353 PCa patients using immunohistochemistry. Using the ‘The Cancer Genome Atlas’ Prostate Adenocarcinoma (TCGA PRAD) database, significant correlations were found between high CPSF4 expression and high-risk genomic abnormalities such as ERG-fusion, ETV1-fusion, and SPOP mutations. Gene Set Enrichment Analysis (GSEA) of CPSF4 revealed evidence for the increase in biological processes such as cellular proliferation and metastasis. We further examined the function of CPSF4 in vitro and confirmed CPSF4 clinical outcomes and its underlying mechanism. Our findings showed a substantial correlation between Gleason groups and CPSF4 protein expression. In vitro, CPSF4 knockdown reduced cell invasion and migration while also causing G1 and G2 arrest in PC3 cell lines. Our findings demonstrate that CPSF4 may be used as a possible biomarker in PCa and support its oncogenic function in cellular proliferation and metastasis. Full article
Show Figures

Figure 1

Back to TopTop