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Chromosome 1

Chromosome 1 (human)
Human male karyotpe high resolution - Chromosome 1 cropped.png
Human chromosome 1 pair after G-banding. One is from mother, one is from father.
Human male karyotpe high resolution - Chromosome 1.png
Chromosome 1 pair
in human male karyogram.
Features
Length (bp) 248,956,422 bp
No. of genes 2,968
Type Autosome
Centromere position Metacentric
(123.4 Mbp)
External map viewers
Ensembl Chromosome 1
Entrez Chromosome 1
NCBI Chromosome 1
UCSC Chromosome 1
Full DNA sequences
RefSeq NC_000001 (FASTA)
GenBank CM000663 (FASTA)

Chromosome 1 is the designation for the largest human chromosome. Humans have two copies of chromosome 1, as they do with all of the autosomes, which are the non-sex chromosomes. Chromosome 1 spans about 249 million nucleotide base pairs, which are the basic units of information for DNA. It represents about 8% of the total DNA in human cells.

Identifying genes on each chromosome is an active area of genetic research. Because researchers use different approaches to genome annotation their predictions of the number of genes on each chromosome varies. In January 2017, two estimates differed by 12%, with one estimate giving 5,078 genes, and the other estimate giving 4,474 genes.

It was the last completed chromosome, sequenced two decades after the beginning of the Human Genome Project.

The following are some of the genes located on chromosome 1:

There are 890 known diseases related to this chromosome. Some of these diseases are hearing loss, Alzheimer disease, glaucoma and breast cancer. 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. The following diseases are some of those related to genes on chromosome 1 (which contains the most known genetic diseases of any human chromosome):


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