Characterization and evolution of a single-copy sequence from the human Y chromosome

Area of Science:

• Genetics
• Evolutionary Biology
• Molecular Biology

Background:

• The human Y chromosome's DNA organization and evolution are complex.
• Understanding Y chromosome DNA is crucial for studying primate evolution.

Purpose of the Study:

• To investigate the evolution and organization of human Y chromosome DNA.
• To identify and characterize Y chromosome-specific DNA sequences and their evolutionary history.

Main Methods:

• Construction of a recombinant DNA library from human Y chromosome DNA using a somatic cell hybrid.
• Localization of a specific 3.3-kilobase EcoRI single-copy fragment (4B2) to the Y long arm.
• DNA hybridization studies under stringent and relaxed conditions using the Y DNA probe in various primate species.

Main Results:

• A human Y DNA probe detected homologous sequences in male but not female great apes (gorilla, chimpanzee, orangutan).
• The homologous sequence exists as a single-copy or low-order repeat in humans and great apes under stringent conditions.
• Under relaxed conditions, the probe identified Y-derived fragments in male primates, but highly repeated sequences in Old World monkeys of both sexes.

Conclusions:

• The studied Y chromosome DNA sequences have undergone significant changes in copy number and chromosomal distribution during primate evolution.
• These findings highlight the dynamic nature of Y chromosome DNA and its role in primate speciation.
• The probe serves as a valuable tool for studying Y chromosome evolution across primates.