The DNA sequence and analysis of human chromosome 6

Area of Science:

• Genomics
• Human Genetics
• Molecular Biology

Background:

• Chromosome 6 represents approximately 6% of the human genome.
• It is a metacentric chromosome, and its complete sequence has been determined.
• This chromosome contains crucial genetic information relevant to human health and disease.

Purpose of the Study:

• To report the comprehensive sequencing and annotation of human Chromosome 6.
• To identify genes and pseudogenes, assess protein-coding gene identification completeness, and discover novel gene elements.
• To investigate the organization and function of specific regions, including the transfer RNA gene cluster and the major histocompatibility complex.

Main Methods:

• High-quality manual annotation of the Chromosome 6 sequence.
• Multi-species comparative sequence analysis to assess gene identification.
• Analysis of gene clusters and polymorphic regions within the major histocompatibility complex.

Main Results:

• The finished sequence of Chromosome 6 spans 166,880,988 base pairs.
• 1,557 genes and 633 pseudogenes were identified with strong evidence.
• At least 96% of protein-coding genes are identified, with evidence for additional exons/genes, including those linked to cancer and autoimmune diseases.
• The largest transfer RNA gene cluster and the highly polymorphic HLA-B gene within the major histocompatibility complex were characterized.

Conclusions:

• The comprehensive analysis of Chromosome 6 provides a high-quality reference sequence and gene set.
• This resource facilitates the study of genetic variations and their roles in diseases like cancer and schizophrenia.
• Chromosome 6 harbors critical immune system genes, with HLA-B being exceptionally polymorphic.