Subtelomere

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Subtelomere copy.jpg

Subtelomere

The subtelomere is a region of a chromosome that is located immediately adjacent to the telomere. Subtelomeres are important for the structural integrity and function of chromosomes. They are involved in the regulation of gene expression and play a role in genomic stability.

Structure[edit | edit source]

Subtelomeres are composed of repetitive DNA sequences and contain a mix of protein-coding genes, pseudogenes, and non-coding RNA genes. These regions are less condensed than the telomere itself but more condensed than the euchromatin found in the central parts of the chromosome. The structure of subtelomeres can vary significantly between different species and even between different chromosomes within the same organism.

Function[edit | edit source]

Subtelomeres play a crucial role in the maintenance of chromosome ends. They help in the protection of telomeres from degradation and prevent the activation of DNA damage response pathways. Subtelomeres are also involved in the regulation of telomerase activity, an enzyme that adds repetitive nucleotide sequences to the ends of chromosomes, thereby maintaining their length.

Genetic Diversity[edit | edit source]

Subtelomeres are known for their high level of genetic diversity. This diversity is due to the presence of multiple gene families and the frequent occurrence of recombination events. The variability in subtelomeric regions can lead to differences in gene expression and can have significant implications for evolution and adaptation.

Clinical Significance[edit | edit source]

Alterations in subtelomeric regions have been associated with various genetic disorders. For example, subtelomeric deletions or duplications can lead to intellectual disability, developmental delay, and other congenital anomalies. Subtelomeric regions are also studied in the context of cancer research, as changes in these regions can contribute to tumorigenesis.

Research[edit | edit source]

Ongoing research is focused on understanding the detailed structure and function of subtelomeres. Advances in genomic technologies have allowed for more precise mapping and characterization of these regions. Studies are also exploring the role of subtelomeres in aging and age-related diseases.

See Also[edit | edit source]

References[edit | edit source]

External Links[edit | edit source]

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Contributors: Prab R. Tumpati, MD