Chromosome 1

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.

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

Genes

Number of genes

The following are some of the gene count estimates of human chromosome 1. Because researchers use different approaches to genome annotation their predictions of the number of genes on each chromosome varies (for technical details, see gene prediction). Among various projects, the collaborative consensus coding sequence project (CCDS) takes an extremely conservative strategy. So CCDS's gene number prediction represents a lower bound on the total number of human protein-coding genes.

Gene list

The following is a partial list of genes on human chromosome 1. For complete list, see the link in the infobox on the right.

• C1orf112: encoding protein Chromosome 1 open reading frame 112
• C1orf127: encoding protein Chromosome 1 open reading frame 127
• C1orf27: encoding protein Chromosome 1 open reading frame 27
• C1orf38: encoding protein Chromosome 1 open reading frame 38
• CCDC181: encoding protein Coiled-coil domain-containing protein 181
• DENN1B: hypothesized to be related to asthma
• FHAD1: encoding protein Forkhead-associated domain containing protein 1
• LOC100132287: uncharacterized protein
• LRRIQ3: encoding protein Leucine-rich repeats and IQ motif containing 3
• Shisa family member 4: encoding protein Shisa family member 4
• TINAGL1: encoding protein Tubulointerstitial nephritis antigen-like

p-arm

Partial list of the genes located on p-arm (short arm) of human chromosome 1:

q-arm

Partial list of the genes located on q-arm (long arm) of human chromosome 1:

Diseases and disorders

There are 890 known diseases related to this chromosome. Some of these diseases are hearing loss, Alzheimer's 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.

Complete monosomy (only having one copy of the entire chromosome) is invariably lethal before birth. Complete trisomy (having three copies of the entire chromosome) is lethal within days after conception. Some partial deletions and partial duplications produce birth defects.

The following diseases are some of those related to genes on chromosome 1 (which contains the most known genetic diseases of any human chromosome):

Cytogenetic band

References

Further reading

External links

• National Institutes of Health. "Chromosome 1". Genetics Home Reference. Archived from the original on 2012-02-04. Retrieved 2017-05-06.
• "Final genome 'chapter' published". BBC News. 2006-05-18. Retrieved 2017-05-06.
• "Chromosome 1". Human Genome Project Information Archive 1990–2003. Retrieved 2017-05-06.