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 chromosome A sex chromosome (also referred to as an allosome, heterotypical chromosome, gonosome, heterochromosome, or idiochromosome) is a chromosome that differs from an ordinary autosome in form, size, and behavior. The human sex chromosomes, a typical ...

s. Chromosome 1 spans about 249 million

nucleotide Nucleotides are organic molecules consisting of a nucleoside and a phosphate. They serve as monomeric units of the nucleic acid polymers – deoxyribonucleic acid (DNA) and ribonucleic acid (RNA), both of which are essential biomolecul ...

base pairs, which are the basic units of information for DNA.http://vega.sanger.ac.uk/Homo_sapiens/mapview?chr=1 Chromosome size and number of genes derived from this database, retrieved 2012-03-11. 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 The Human Genome Project (HGP) was an international scientific research project with the goal of determining the base pairs that make up human DNA, and of identifying, mapping and sequencing all of the genes of the human genome from both a ...

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 In computational biology, gene prediction or gene finding refers to the process of identifying the regions of genomic DNA that encode genes. This includes protein-coding genes as well as RNA genes, but may also include prediction of other functi ...

). 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 Tubulointerstitial nephritis antigen-like is a protein that in humans is encoded by the ''TINAGL1'' gene In biology, the word gene (from , ; "...Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ...

: 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 Hearing loss is a partial or total inability to hear. Hearing loss may be present at birth or acquired at any time afterwards. Hearing loss may occur in one or both ears. In children, hearing problems can affect the ability to acquire spoken la ...

, Alzheimer's disease,

glaucoma Glaucoma is a group of eye diseases that result in damage to the optic nerve (or retina) and cause vision loss. The most common type is open-angle (wide angle, chronic simple) glaucoma, in which the drainage angle for fluid within the eye re ...

and

breast cancer Breast cancer is cancer that develops from breast tissue. Signs of breast cancer may include a lump in the breast, a change in breast shape, dimpling of the skin, milk rejection, fluid coming from the nipple, a newly inverted nipple, or ...

. 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 defect A birth defect, also known as a congenital disorder, is an abnormal condition that is present at birth regardless of its cause. Birth defects may result in disabilities that may be physical, intellectual, or developmental. The disabilities c ...

s. The following diseases are some of those related to genes on chromosome 1 (which contains the most known genetic diseases of any human chromosome): * 1q21.1 deletion syndrome * 1q21.1 duplication syndrome * Alzheimer's disease * Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons *

Breast cancer Breast cancer is cancer that develops from breast tissue. Signs of breast cancer may include a lump in the breast, a change in breast shape, dimpling of the skin, milk rejection, fluid coming from the nipple, a newly inverted nipple, or ...

Brooke Greenberg Brooke Megan Greenberg (January 8, 1993 – October 24, 2013) was an American woman who remained physically and cognitively similar to a toddler, despite her increasing age. She was about tall, weighed about and had an estimated mental age of ...

Disease (Syndrome X) * Carnitine palmitoyltransferase II deficiency * Charcot–Marie–Tooth disease, types 1 and 2 * collagenopathy, types II and XI * congenital hypothyroidism * Ehlers-Danlos syndrome * Factor V Leiden thrombophilia *

Familial adenomatous polyposis Familial adenomatous polyposis (FAP) is an autosomal dominant inherited condition in which numerous adenomatous polyps form mainly in the epithelium of the large intestine. While these polyps start out benign, malignant transformation into c ...

* galactosemia * Gaucher disease * Gaucher-like disease * Gelatinous drop-like corneal dystrophy *

Glaucoma Glaucoma is a group of eye diseases that result in damage to the optic nerve (or retina) and cause vision loss. The most common type is open-angle (wide angle, chronic simple) glaucoma, in which the drainage angle for fluid within the eye re ...

Hearing loss Hearing loss is a partial or total inability to hear. Hearing loss may be present at birth or acquired at any time afterwards. Hearing loss may occur in one or both ears. In children, hearing problems can affect the ability to acquire spoken la ...

, autosomal recessive deafness 36 * Hemochromatosis *

Hepatoerythropoietic porphyria Hepatoerythropoietic porphyria is a very rare form of hepatic porphyria caused by a disorder in both genes which code Uroporphyrinogen III decarboxylase (UROD). It has a similar presentation to porphyria cutanea tarda (PCT), but with earlier on ...

* Homocystinuria * Hutchinson Gilford progeria syndrome * 3-hydroxy-3-methylglutaryl-CoA lyase deficiency *

Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy (HCM, or HOCM when obstructive) is a condition in which the heart becomes thickened without an obvious cause. The parts of the heart most commonly affected are the interventricular septum and the ventricles. This r ...

, autosomal dominant mutations of TNNT2; hypertrophy usually mild; restrictive phenotype may be present; may carry high risk of sudden cardiac death * maple syrup urine disease * medium-chain acyl-coenzyme A dehydrogenase deficiency * Microcephaly * Muckle–Wells syndrome * Nonsyndromic deafness * Oligodendroglioma * Parkinson disease * Pheochromocytoma * porphyria * porphyria cutanea tarda * popliteal pterygium syndrome *

prostate cancer Prostate cancer is cancer of the prostate. Prostate cancer is the second most common cancerous tumor worldwide and is the fifth leading cause of cancer-related mortality among men. The prostate is a gland in the male reproductive system that su ...

* Stickler syndrome * TAR syndrome * trimethylaminuria * Usher syndrome *

Usher syndrome type II Usher syndrome, also known as Hallgren syndrome, Usher–Hallgren syndrome, retinitis pigmentosa–dysacusis syndrome or dystrophia retinae dysacusis syndrome, is a rare genetic disorder caused by a mutation in any one of at least 11 genes result ...

* Van der Woude syndrome *

Variegate porphyria Variegate porphyria, also known by several other names, is an autosomal dominant porphyria that can have acute (severe but usually not long-lasting) symptoms along with symptoms that affect the skin. The disorder results from low levels of the ...

Cytogenetic band

References

External links

* * * {{DEFAULTSORT:Chromosome 01 (Human) Chromosome 01 *