The finished DNA sequence of human chromosome 12

Area of Science:

• Genomics
• Human Genetics
• Evolutionary Biology

Background:

• Human chromosome 12 is significant, containing over 1,400 coding genes and 487 disease-associated loci.
• The q arm of chromosome 12 harbors extensive linkage disequilibrium, a crucial factor in genetic studies.
• Understanding chromosome 12's sequence is vital for genetic research and disease association studies.

Purpose of the Study:

• To present the finished, high-quality sequence of human chromosome 12.
• To analyze the evolutionary history and rearrangements of chromosome 12 across vertebrate lineages.
• To investigate substitution rates in recent evolutionary history.

Main Methods:

• High-quality sequencing of human chromosome 12.
• Sequence alignment across vertebrate genomes (chicken, rodents, primates).
• Comparative analysis of genomic rearrangements and base substitution rates.

Main Results:

• The complete sequence of human chromosome 12, spanning 132 megabases (4.5% of the human genome), has been finished.
• Comparative analysis revealed segment origins in chicken and complex rearrangement histories in rodents and primates.
• A notable slowing of base substitution rates was observed in hominids compared to primates and rodents.

Conclusions:

• The finished sequence of human chromosome 12 provides a valuable resource for genetic research.
• The evolutionary analysis highlights conserved segments and lineage-specific rearrangements.
• The observed slowing of substitution rates in hominids offers insights into recent human evolution.