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The reference sequence for each human chromosome provides the framework for understanding genome function, variation and evolution. Here we report the finished sequence and biological annotation of human chromosome 1. Chromosome 1 is gene-dense, with 3,141 genes and 991 pseudogenes, and many coding sequences overlap. Rearrangements and mutations of chromosome 1 are prevalent in cancer and many other diseases. Patterns of sequence variation reveal signals of recent selection in specific genes that may contribute to human fitness, and also in regions where no function is evident. Fine-scale recombination occurs in hotspots of varying intensity along the sequence, and is enriched near genes. These and other studies of human biology and disease encoded within chromosome 1 are made possible with the highly accurate annotated sequence, as part of the completed set of chromosome sequences that comprise the reference human genome.

Original publication

DOI

10.1038/nature04727

Type

Journal article

Journal

Nature

Publication Date

05/2006

Volume

441

Pages

315 - 321

Addresses

The Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus, Hinxton, Cambridgeshire CB10 1SA, UK. sgregory@chg.duhs.duke.edu

Keywords

Chromosomes, Human, Pair 1, Humans, Disease, Sequence Analysis, DNA, Genomics, DNA Replication Timing, Gene Duplication, Recombination, Genetic, Base Sequence, Genes, Open Reading Frames, Pseudogenes, Molecular Sequence Data, Genetic Variation, Selection, Genetic