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General Transcription Factors

General Transcription Factors

Tissue-specific transcription factors contribute to diverse cellular functions in mammals. For example, the gene for beta globin, a major component of hemoglobin, is present in all cells of the body. However, it is only expressed in red blood cells because the transcription factors that can bind to the promoter sequences of the beta globin gene are only expressed in these cells. Tissue-specific transcription factors also ensure that mutations in these factors may impair only the function of...

Cell Specific Gene Expression

Cell Specific Gene Expression

Multicellular organisms contain a variety of structurally and functionally distinct cell types, but the DNA in all the cells originated from the same parent cells. The differences in the cells can be attributed to the differential gene expression. Liver cells, whose functions include detoxification of blood, production of bile to metabolize fats, and synthesis of proteins essential for metabolism, must express a specific set of genes to perform their functions. Gene expression also varies with...

Cell Specific Gene Expression

Cell Specific Gene Expression

Multicellular organisms contain a variety of structurally and functionally distinct cell types, but the DNA in all the cells originated from the same parent cells. The differences in the cells can be attributed to the differential gene expression. Liver cells, whose functions include detoxification of blood, production of bile to metabolize fats, and synthesis of proteins essential for metabolism, must express a specific set of genes to perform their functions. Gene expression also varies with...

Non-LTR Retrotransposons

Non-LTR Retrotransposons

As the name suggests, non-LTR retrotransposons lack the long terminal repeats characteristic of the LTR retrotransposons. Additionally, both LTR and non-LTR retrotransposons use distinct mechanisms of mobilization. Non-LTR retrotransposons are further divided into two classes - Long interspersed nuclear elements (LINEs) and short interspersed nuclear elements (SINEs), both of which occur abundantly in most mammals, including humans. Some of the active non-LTR retrotransposons in humans are L1...

Transcription Factors

Transcription Factors

Tissue-specific transcription factors contribute to diverse cellular functions in mammals. For example, the gene for beta globin, a major component of hemoglobin, is present in all cells of the body. However, it is only expressed in red blood cells because the transcription factors that can bind to the promoter sequences of the beta globin gene are only expressed in these cells. Tissue-specific transcription factors also ensure that mutations in these factors may impair only the function of...

Inheritance of Chromatin Structures

Inheritance of Chromatin Structures

Epigenetics is the study of inherited changes in a cell's phenotype without changing the DNA sequences. It provides a form of memory for the differential gene expression pattern to maintain cell lineage, position-effect variegation, dosage compensation, and maintenance of chromatin structures such as telomeres and centromeres. For example, the structure and location of the centromere on chromosomes are epigenetically inherited. Its functionality is not dictated or ensured by the underlying DNA...

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Related Experiment Video

Updated: Jun 15, 2026

LINE-1 Methylation Analysis in Mesenchymal Stem Cells Treated with Osteosarcoma-Derived Extracellular Vesicles

LINE-1 Methylation Analysis in Mesenchymal Stem Cells Treated with Osteosarcoma-Derived Extracellular Vesicles

Published on: February 1, 2020

Somatic expression of LINE-1 elements in human tissues.

Victoria P Belancio¹, Astrid M Roy-Engel, Radhika R Pochampally

¹Department of Structural and Cellular Biology, Tulane School of Medicine and Tulane Center for Aging, Tulane University, New Orleans, LA 70112, USA.

Nucleic Acids Research

|March 11, 2010

Summary

LINE-1 retrotransposons are active in human somatic tissues, not just the germ line. Their expression and RNA processing can cause DNA damage, potentially contributing to cancer and aging.

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Analysis of LINE-1 Retrotransposition at the Single Nucleus Level

Analysis of LINE-1 Retrotransposition at the Single Nucleus Level

Published on: April 23, 2016

Area of Science:

Genetics
Molecular Biology
Cell Biology

Background:

LINE-1 (L1) retrotransposons are mobile genetic elements.
L1 activity is primarily associated with germline cells.
L1 insertions and DNA double-strand breaks (DSBs) are toxic and mutagenic.

Purpose of the Study:

To investigate the expression and activity of L1 retrotransposons in human somatic tissues.
To determine the role of RNA processing in regulating L1 activity.
To assess the DNA-damaging potential of L1 transcripts in somatic cells.

Main Methods:

Analysis of full-length and processed L1 transcripts in various human tissues and cell lines.
Alu retrotransposition assay.
COMET assays and 53BP1 foci staining to detect DNA damage.
Senescence-associated beta-galactosidase expression assays.

Main Results:

Widespread expression of full-length and processed L1 transcripts in human somatic tissues and transformed cells.
Significant variation in L1 expression and mRNA processing across tissues.
Identification of spliced L1 transcripts (SpORF2) capable of producing functional ORF2 protein.
SpORF2 induces DNA damage and triggers a senescence-like phenotype in normal cells.
L1 expression is not restricted to the germ line.

Conclusions:

RNA processing is a key regulator of L1 retrotransposon activity.
L1 retrotransposons function as endogenous mutagens in somatic tissues.
Somatic L1 activity may contribute to cancer development and mammalian aging.