4.3 Article

LINE-1 retrotransposons: from 'parasite' sequences to functional elements

期刊

JOURNAL OF APPLIED GENETICS
卷 56, 期 1, 页码 133-145

出版社

SPRINGER HEIDELBERG
DOI: 10.1007/s13353-014-0241-x

关键词

LINE-1 retrotransposons; Rodentia; Genomic distribution; Repeat sequences functional significance; Imprinting

资金

  1. Foundation for Science and Technology (FCT) of Portugal [SFRH/BD/41574/2007]
  2. [POCI/BIA-BCM/58541/2004]
  3. Fundação para a Ciência e a Tecnologia [SFRH/BD/41574/2007, POCI/BIA-BCM/58541/2004] Funding Source: FCT

向作者/读者索取更多资源

Long interspersed nuclear elements-1 (LINE-1) are the most abundant and active retrotransposons in the mammalian genomes. Traditionally, the occurrence of LINE-1 sequences in the genome of mammals has been explained by the selfish DNA hypothesis. Nevertheless, recently, it has also been argued that these sequences could play important roles in these genomes, as in the regulation of gene expression, genome modelling and X-chromosome inactivation. The non-random chromosomal distribution is a striking feature of these retroelements that somehow reflects its functionality. In the present study, we have isolated and analysed a fraction of the open reading frame 2 (ORF2) LINE-1 sequence from three rodent species, Cricetus cricetus, Peromyscus eremicus and Praomys tullbergi. Physical mapping of the isolated sequences revealed an interspersed longitudinal AT pattern of distribution along all the chromosomes of the complement in the three genomes. A detailed analysis shows that these sequences are preferentially located in the euchromatic regions, although some signals could be detected in the heterochromatin. In addition, a coincidence between the location of imprinted gene regions (as Xist and Tsix gene regions) and the LINE-1 retroelements was also observed. According to these results, we propose an involvement of LINE-1 sequences in different genomic events as gene imprinting, X-chromosome inactivation and evolution of repetitive sequences located at the heterochromatic regions (e.g. satellite DNA sequences) of the rodents' genomes analysed.

作者

我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。

评论

主要评分

4.3
评分不足

次要评分

新颖性
-
重要性
-
科学严谨性
-
评价这篇论文

推荐

Review Genetics & Heredity

Decoding the Role of Satellite DNA in Genome Architecture and Plasticity-An Evolutionary and Clinical Affair

Sandra Louzada, Mariana Lopes, Daniela Ferreira, Filomena Adega, Ana Escudeiro, Margarida Gama-Carvalho, Raquel Chaves

Review Biochemistry & Molecular Biology

Future Perspectives in Detecting EGFR and ALK Gene Alterations in Liquid Biopsies of Patients with NSCLC

Daniela Ferreira, Juliana Miranda, Paula Martins-Lopes, Filomena Adega, Raquel Chaves

Summary: Liquid biopsies are important for the early detection of gene alterations in NSCLC patients and disease management, highlighting the impact of NGS methods; however, their use in oncology is still limited.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2021)

Review Biochemistry & Molecular Biology

Genomic Tackling of Human Satellite DNA: Breaking Barriers through Time

Mariana Lopes, Sandra Louzada, Margarida Gama-Carvalho, Raquel Chaves

Summary: Studies have shown that satellite DNA sequences play an important role in the human genome, but there are differences in various features. Different satDNA families have been identified at different speeds, showing high sub-variability. Approaches combining multiple techniques have been successful in the field of human satDNA biology, promising integrated knowledge generation.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2021)

Article Biochemistry & Molecular Biology

Analysis of the Robertsonian (1;29) fusion in Bovinae reveals a common mechanism: insights into its clinical occurrence and chromosomal evolution

A. Escudeiro, F. Adega, T. J. Robinson, J. S. Heslop-Harrison, R. Chaves

Summary: The study reports a fine-scale molecular analysis of centromeric satDNA families in Robertsonian fusion chromosomes of domestic cattle and antelope species. It reveals that Rb fusions involve complex rearrangements of specific satDNA sequences, but do not affect their centromeric activity, suggesting a common mechanism for Rb fusions in bovids and mammals in general.

CHROMOSOME RESEARCH (2021)

Review Biochemistry & Molecular Biology

Biosensors as diagnostic tools in clinical applications

C. Lino, S. Barrias, R. Chaves, F. Adega, P. Martins-Lopes, J. R. Fernandes

Summary: Nowadays, the development of new technological solutions in the medical field, especially biosensors, is a priority and a significant investment. Biomarkers combined with biosensors have the potential to revolutionize healthcare management, providing fast, cost-effective, reliable, and highly sensitive clinical diagnosis.

BIOCHIMICA ET BIOPHYSICA ACTA-REVIEWS ON CANCER (2022)

Article Biology

Comprehensive In Silico Analysis of Retrotransposon Insertions within the Survival Motor Neuron Genes Involved in Spinal Muscular Atrophy

Albano Pinto, Catarina Cunha, Raquel Chaves, Matthew E. R. Butchbach, Filomena Adega

Summary: Transposable elements (TEs) are DNA sequences that can move throughout the genome and play important roles in gene regulation and function. In this study, we examined the presence of TEs in the genomes of SMA patients and healthy individuals and identified distinct TEs within the SMA genes that may impact gene expression by affecting promoter activity, transcriptional termination, and alternative splicing. Understanding the roles of TEs in SMA may provide valuable insights into other neurodegenerative diseases.

BIOLOGY-BASEL (2022)

Article Pharmacology & Pharmacy

pH-Responsive Hybrid Nanoassemblies for Cancer Treatment: Formulation Development, Optimization, and In Vitro Therapeutic Performance

Patricia Teixeira, Filomena Adega, Paula Martins-Lopes, Raul Machado, Carla M. M. Lopes, Marlene Lucio

Summary: By developing intelligent materials that respond to environmental stimuli, we have successfully optimized pH-triggered drug delivery nanoassemblies, which exhibit increased release of doxorubicin (DOX) in acidic conditions (pH 5.5) typical of cancer tissues, while exhibiting lower release in normal physiological conditions (pH 7.5), potentially reducing cytotoxicity in healthy cells.

PHARMACEUTICS (2023)

Article Biology

Human Satellite 1A analysis provides evidence of pericentromeric transcription

Mariana Lopes, Sandra Louzada, Daniela Ferreira, Gabriela Verissimo, Daniel Eleuterio, Margarida Gama-Carvalho, Raquel Chaves

Summary: This study aims to characterize and understand the biological relevance of HSat1A. Through in vitro isolation, gene cloning, and in vivo transcription analysis, the mapping and function of HSat1A in human chromosomes were identified. It was found that the polyadenylation status of HSat1A transcripts varies, suggesting a potential role in alternative polyadenylation regulation. This research is significant for understanding the transcriptional mechanism of HSat1A and its involvement in disease development.

BMC BIOLOGY (2023)

Article Chemistry, Analytical

Development of a QCM-based biosensor for the detection of non-small cell lung cancer biomarkers in liquid biopsies

Catarina Lino, Sara Barrias, Raquel Chaves, Filomena Adega, Jose Ramiro Fernandes, Paula Martins-Lopes

Summary: Lung cancer, with one of the lowest survival rates, is the main malignant cancer reported worldwide. Deletions in the Epidermal Growth Factor Receptor (EGFR) gene are often associated with non-small cell lung cancer (NSCLC), a common subtype of lung cancer. The development of a DNA-based biosensor, namely a quartz crystal microbalance (QCM), applied to the detection of NSCLC, was reported in this study. The biosensor was able to detect specific DNA sequences in both synthetic and real samples, and aspects such as reutilization and regeneration of the QCM electrode were also studied.

TALANTA (2023)

Article Biotechnology & Applied Microbiology

Satellite Noncoding RNAs (ncRNA) as Cancer Biomarkers? New Insights from FA-SAT ncRNA Molecular and Clinical Profiles in Feline Mammary Tumors

Daniela Ferreira, Maria Soares, Jorge Correia, Filomena Adega, Fernando Ferreira, Raquel Chaves

Summary: The study investigates FA-SAT ncRNA in feline mammary tumors and finds associations between FA-SAT DNA and RNA levels and clinicopathological parameters, suggesting FA-SAT ncRNA as a potential biomarker for feline cancer.

OMICS-A JOURNAL OF INTEGRATIVE BIOLOGY (2022)

暂无数据