[Structure and evolution of human sub-telomeric regions].

Area of Science:

• Genomics
• Human Genetics
• Evolutionary Biology

Background:

• Recent advancements in human genome analysis have refined the understanding of subtelomeric regions.
• DNA sequence analysis reveals degenerate TTAGGG repeats near telomeres, marking boundaries between distinct genomic domains.

Purpose of the Study:

• To define and characterize subtelomeric domains and their evolutionary dynamics.
• To investigate the mechanisms and patterns of subtelomeric region evolution, particularly locus DNF92 and olfactory receptor genes.

Main Methods:

• Comparative analysis of DNA sequences from human and yeast chromosome ends.
• Detailed study of locus DNF92 evolution across primates.
• Examination of olfactory receptor gene family distribution and polymorphism.

Main Results:

• Two distinct subtelomeric domains identified: a distal domain with interrupted homology and a proximal domain with long homology.
• Locus DNF92 has recently spread across multiple human chromosome ends via balanced translocation, exhibiting presence-absence polymorphisms.
• Olfactory receptor genes share similar telomeric locations and polymorphisms, suggesting coordinated evolution with subtelomeric regions.

Conclusions:

• Subtelomeric domains provide novel tools for studying recent human genome evolution.
• The observed patterns of spread and polymorphism highlight significant human genome diversity.
• Competition between subtelomeric regions may influence their distribution and frequency.