Chromosome 1 (human)
Encyclopedia
Autosome
An autosome is a chromosome that is not a sex chromosome, or allosome; that is to say, there is an equal number of copies of the chromosome in males and females. For example, in humans, there are 22 pairs of autosomes. In addition to autosomes, there are sex chromosomes, to be specific: X and Y...
s, which are the non-sex chromosomes. Chromosome 1 spans about 247 million nucleotide
Nucleotide
Nucleotides are molecules that, when joined together, make up the structural units of RNA and DNA. In addition, nucleotides participate in cellular signaling , and are incorporated into important cofactors of enzymatic reactions...
base pair
Base pair
In molecular biology and genetics, the linking between two nitrogenous bases on opposite complementary DNA or certain types of RNA strands that are connected via hydrogen bonds is called a base pair...
s, which are the basic units of information for DNA
DNA
Deoxyribonucleic acid is a nucleic acid that contains the genetic instructions used in the development and functioning of all known living organisms . The DNA segments that carry this genetic information are called genes, but other DNA sequences have structural purposes, or are involved in...
. It represents about 8% of the total DNA in human cells.
Identifying gene
Gene
A gene is a molecular unit of heredity of a living organism. It is a name given to some stretches of DNA and RNA that code for a type of protein or for an RNA chain that has a function in the organism. Living beings depend on genes, as they specify all proteins and functional RNA chains...
s on each chromosome is an active area of genetic research
Genetics
Genetics , a discipline of biology, is the science of genes, heredity, and variation in living organisms....
. Chromosome 1 is currently believed to have 4,220 genes, exceeding previous predictions based on its size. It was the last completed chromosome, sequenced two decades after the beginning of the Human Genome Project
Human Genome Project
The Human Genome Project is an international scientific research project with a primary goal of determining the sequence of chemical base pairs which make up DNA, and of identifying and mapping the approximately 20,000–25,000 genes of the human genome from both a physical and functional...
.
The number of single nucleotide polymorphisms (SNPs) is about 740,000.
p-arm
- ACADMACADMACADM is a gene that provides instructions for making an enzyme called acyl-coenzyme A dehydrogenase that is important for breaking down a certain group of fats called medium-chain fatty acids. These fatty acids are found in foods such as milk and certain oils, and they are also stored in the...
: acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain - COL11A1COL11A1Collagen alpha-1 chain is a protein that in humans is encoded by the COL11A1 gene.- Function :The COL11A1 gene encodes one of the two alpha chains of type XI collagen, a minor fibrillar collagen. Type XI collagen is a heterotrimer but the third alpha chain is a post-translationally modified alpha 1...
: collagen, type XI, alpha 1 - CPT2: carnitine palmitoyltransferase II
- DBTDBT (gene)Lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial is an enzyme that in humans is encoded by the DBT gene.-Further reading:...
: dihydrolipoamide branched chain transacylase E2 - DIRAS3: DIRAS family, GTP-binding RAS-like 3
- ESPN: espin (autosomal recessive deafness 36)
- GALEGaleA gale is a very strong wind. There are conflicting definitions of how strong a wind must be to be considered a gale. The U.S. government's National Weather Service defines a gale as 34–47 knots of sustained surface winds. Forecasters typically issue gale warnings when winds of this strength are...
: UDP-galactose-4-epimerase - GJB3GJB3Gap junction beta-3 protein is a protein that in humans is encoded by the GJB3 gene.- Function :This gene is a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of...
: gap junction protein, beta 3, 31kDa (connexin 31) - HMGCL: 3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase (hydroxymethylglutaricaciduria)
- KCNQ4KCNQ4Potassium voltage-gated channel subfamily KQT member 4 is a protein that in humans is encoded by the KCNQ4 gene.- External links :*...
: potassium voltage-gated channel, KQT-like subfamily, member 4 - KIF1BKIF1BKinesin-like protein KIF1B is a protein that in humans is encoded by the KIF1B gene.-External links:*...
: kinesin family member 1B - MFN2MFN2Mitofusin-2 is a protein that in humans is encoded by the MFN2 gene.- Function :Mitofusin-2 is a mitochondrial membrane protein that participates in mitochondrial fusion and contributes to the maintenance and operation of the mitochondrial network...
: mitofusin 2 - MTHFR: 5,10-methylenetetrahydrofolate reductase (NADPH)
- MUTYHMUTYHMUTYH is a human gene encoding a DNA glycosylase, MUTYH glycosylase, involved in oxidative DNA damage repair. The enzyme excises adenine bases from the DNA backbone at sites where adenine is inappropriately paired with guanine, cytosine, or 8-oxo-7,8-dihydroguanine, a major oxidatively damaged DNA...
: mutY homolog (E. coli) - NGFNerve growth factorNerve growth factor is a small secreted protein that is important for the growth, maintenance, and survival of certain target neurons . It also functions as a signaling molecule. It is perhaps the prototypical growth factor, in that it is one of the first to be described...
: Nerve Growth Factor - PARK7PARK7Parkinson disease 7, also known as PARK7, is a protein which in humans is encoded by the PARK7 gene. It is also known as DJ-1.- Function :...
: Parkinson disease (autosomal recessive, early onset) 7 - PINK1PINK1PTEN-induced putative kinase 1 is a mitochondrial serine/threonine-protein kinase encoded by the PINK1 gene.-External links:* -Further reading:...
: PTEN induced putative kinase 1 - PLOD1: procollagen-lysine 1, 2-oxoglutarate 5-dioxygenase 1
- TSHBTSHBThyroid stimulating hormone, beta also known as TSHB is a protein which in humans is encoded by the TSHB gene.- Function :Thyrotropin-stimulating hormone is a noncovalently linked glycoprotein heterodimer and is part of a family of pituitary hormones containing a common alpha subunit and a unique...
: thyroid stimulating hormone, beta - UROD: uroporphyrinogen decarboxylase (the gene for porphyria cutanea tardaPorphyria cutanea tardaPorphyria cutanea tarda is the most common subtype of porphyria. The disorder results from low levels of the enzyme responsible for the fifth step in heme production. Heme is a vital molecule for all of the body's organs...
)
q-arm
- ASPM: a brain size determinant
- F5: coagulation factor V (proaccelerin, labile factor)
- FMO3: flavin containing monooxygenase 3
- GBA: glucosidase, beta; acid (includes glucosylceramidase) (gene for Gaucher disease)
- GLC1A: gene for glaucomaGlaucomaGlaucoma is an eye disorder in which the optic nerve suffers damage, permanently damaging vision in the affected eye and progressing to complete blindness if untreated. It is often, but not always, associated with increased pressure of the fluid in the eye...
- HFE2: hemochromatosis type 2 (juvenile)
- HPC1: gene for prostate cancerProstate cancerProstate cancer is a form of cancer that develops in the prostate, a gland in the male reproductive system. Most prostate cancers are slow growing; however, there are cases of aggressive prostate cancers. The cancer cells may metastasize from the prostate to other parts of the body, particularly...
- IRF6IRF6Interferon regulatory factor 6 also known as IRF6 is a protein that in humans is encoded by the IRF6 gene.-Function:This gene encodes a member of the interferon regulatory transcription factor family...
: gene for connective tissueConnective tissue"Connective tissue" is a fibrous tissue. It is one of the four traditional classes of tissues . Connective Tissue is found throughout the body.In fact the whole framework of the skeleton and the different specialized connective tissues from the crown of the head to the toes determine the form of...
formation - LMNALMNALamin A/C also known as LMNA is a protein that in humans is encoded by the LMNA gene. Lamin A/C belongs to the lamin family of proteins.-Function:...
: lamin A/C - MPZ: myelin protein zero (Charcot-Marie-Tooth neuropathy 1B)
- MTR: 5-methyltetrahydrofolate-homocysteine methyltransferase
- PPOXPPOXProtoporphyrinogen oxidase is an enzyme that in humans is encoded by the PPOX gene.PPOX is a human gene that produces an enzyme called protoporphyrinogen oxidase. This enzyme is responsible for the seventh step in heme production. Heme is the portion of hemoglobin that carries oxygen in the blood...
: protoporphyrinogen oxidase - PSEN2PSEN2Presenilin-2 is a protein that in humans is encoded by the PSEN2 gene.- Function :Alzheimer's disease patients with an inherited form of the disease carry mutations in the presenilin proteins or the amyloid precursor protein...
: presenilin 2 (Alzheimer disease 4) - SDHBSDHBSuccinate dehydrogenase [ubiquinone] iron-sulfur subunit, mitochondrial also known as iron-sulfur subunit of complex II is a protein that in humans is encoded by the SDHB gene....
: succinate dehydrogenase complex subunit B - TNNT2TNNT2Troponin T type 2 , also known as TNNT2, is a protein which in humans is encoded by the TNNT2 gene.The protein encoded by this gene is the tropomyosin-binding subunit of the troponin complex, which is located on the thin filament of striated muscles and regulates muscle contraction in response to...
: cardiac troponin T2 - USH2AUSH2AUsherin is a protein that in humans is encoded by the USH2A gene.-External Links:* -Further reading:...
: Usher syndromeUsher syndromeUsher syndrome is a relatively rare genetic disorder that is a leading cause of deafblindness and that is associated with a mutation in any one of 10 genes. Other names for Usher syndrome include Hallgren syndrome, Usher-Hallgren syndrome, rp-dysacusis syndrome and dystrophia retinae dysacusis...
2A (autosomal recessive, mild)
According to http://www.ornl.gov/sci/techresources/Human_Genome/posters/chromosome/chromo01.shtml the Chromosome 1 contains 263 million base pairs
Diseases & disorders
There are 890 known diseases related to this chromosome. Some of these diseases are deafness, 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):
- 1q21.1 deletion syndrome1q21.1 deletion syndrome1q21.1 deletion syndrome or 1q21.1 microdeletion is a rare aberration of chromosome 1. , the international rare chromosome disorder group, has 48 genetically confirmed registered cases of this deletion worldwide ....
- 1q21.1 duplication syndrome1q21.1 duplication syndrome1q21.1 duplication syndrome or 1q21.1 microduplication is a rare aberration of chromosome 1. , the international rare chromosome disorder group, has 38 genetically confirmed registered cases of this duplication worldwide ....
- Alzheimer disease
- Alzheimer disease, type 4
- Breast cancerBreast cancerBreast cancer is cancer originating from breast tissue, most commonly from the inner lining of milk ducts or the lobules that supply the ducts with milk. Cancers originating from ducts are known as ductal carcinomas; those originating from lobules are known as lobular carcinomas...
- Brooke GreenbergBrooke GreenbergBrooke Greenberg , is an American from Reisterstown, Maryland, who has remained physically and cognitively similar to a toddler, despite her increasing age. She is about 30 inches tall, weighs about 16 pounds , and has an estimated mental age of nine months to one year...
Disease (Syndrome X) - Carnitine palmitoyltransferase II deficiencyCarnitine palmitoyltransferase II deficiencyCarnitine palmitoyltransferase II deficiency is a metabolic disorder characterized by an enzymatic defect that prevents long-chain fatty acids from being transported into the mitochondria for utilization as an energy source....
- Charcot–Marie–Tooth disease, types 1 and 2
- collagenopathy, types II and XICollagenopathy, types II and XIThe type II and XI collagenopathies are a group of disorders that affect connective tissue, the tissue that supports the body's joints and organs. These disorders are caused by defects in type II or type XI collagen. Collagens are complex molecules that provide structure, strength, and elasticity ...
- congenital hypothyroidismCongenital hypothyroidismCongenital hypothyroidism is a condition of thyroid hormone deficiency present at birth. Approximately 1 in 4000 newborn infants has a severe deficiency of thyroid function, while even more have mild or partial degrees. If untreated for several months after birth, severe congenital hypothyroidism...
- Deafness, autosomal recessive deafness 36
- Ehlers-Danlos syndromeEhlers-Danlos syndromeEhlers–Danlos syndrome is a group of inherited connective tissue disorders, caused by a defect in the synthesis of collagen . The collagen in connective tissue helps tissues to resist deformation...
- Ehlers-Danlos syndrome, kyphoscoliosis type
- Factor V Leiden thrombophilia
- Familial adenomatous polyposisFamilial adenomatous polyposisFamilial adenomatous polyposis is an inherited condition in which numerous polyps form mainly in the epithelium of the large intestine. While these polyps start out benign, malignant transformation into colon cancer occurs when not treated....
- galactosemiaGalactosemiaGalactosemia is a rare genetic metabolic disorder that affects an individual's ability to metabolize the sugar galactose properly. Although the sugar lactose can metabolize to galactose, galactosemia is not related to and should not be confused with lactose intolerance...
- Gaucher disease
- Gaucher disease type 1
- Gaucher disease type 2
- Gaucher disease type 3
- Gaucher-like disease
- Gelatinous drop-like corneal dystrophyGelatinous drop-like corneal dystrophyGelatinous drop-like corneal dystrophy is a rare form of human corneal dystrophy...
- GlaucomaGlaucomaGlaucoma is an eye disorder in which the optic nerve suffers damage, permanently damaging vision in the affected eye and progressing to complete blindness if untreated. It is often, but not always, associated with increased pressure of the fluid in the eye...
- Hemochromatosis
- Hemochromatosis, type 2
- Hepatoerythropoietic porphyriaHepatoerythropoietic porphyriaHepatoerythropoietic porphyria is a very rare form of hepatic porphyria caused by a disorder in both genes which code Uroporphyrinogen III decarboxylase .It has a similar presentation to porphyria cutanea tarda , but with earlier onset...
- HomocystinuriaHomocystinuriaHomocystinuria, also known as cystathionine beta synthase deficiency or CBS deficiency, is an inherited disorder of the metabolism of the amino acid methionine, often involving cystathionine beta synthase...
- Hutchinson Gilford Progeria Syndrome
- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency3-hydroxy-3-methylglutaryl-CoA lyase deficiency3-hydroxy-3-methylglutaryl-CoA lyase deficiency also referred to as HMG-CoA lyase deficiency or Hydroxymethylglutaric aciduria, is an uncommon inherited disorder in which the body cannot properly process the amino acid leucine...
- Hypertrophic cardiomyopathyHypertrophic cardiomyopathyHypertrophic cardiomyopathy is a disease of the myocardium in which a portion of the myocardium is hypertrophied without any obvious cause...
, autosomal dominant mutations of TNNT2; hypertrophy usually mild; restrictive phenotype may be present; may carry high risk of sudden cardiac death - maple syrup urine diseaseMaple syrup urine diseaseMaple syrup urine disease , also called branched-chain ketoaciduria, is an autosomal recessive metabolic disorder affecting branched-chain amino acids. It is one type of organic acidemia...
- medium-chain acyl-coenzyme A dehydrogenase deficiencyMedium-chain acyl-coenzyme A dehydrogenase deficiencyMedium-chain acyl-coenzyme A dehydrogenase deficiency is a fatty acid oxidation disorder associated with inborn errors of metabolism. It is due to defects in the enzyme complex known as medium-chain acyl dehydrogenase and reduced activity of this complex...
- MicrocephalyMicrocephalyMicrocephaly is a neurodevelopmental disorder in which the circumference of the head is more than two standard deviations smaller than average for the person's age and sex. Microcephaly may be congenital or it may develop in the first few years of life...
- Muckle-Wells SyndromeMuckle-Wells syndromeMuckle–Wells syndrome , also known as , is a rare autosomal dominant disease which causes sensorineural deafness, recurrent hives, and can lead to amyloidosis. Individuals with MWS often have episodic fever, chills, and painful joints. As a result, MWS is considered a type of periodic fever syndrome...
- Nonsyndromic deafnessNonsyndromic deafnessNonsyndromic deafness is hearing loss that is not associated with other signs and symptoms. In contrast, syndromic deafness involves hearing loss that occurs with abnormalities in other parts of the body....
- Nonsyndromic deafness, autosomal dominant
- Nonsyndromic deafness, autosomal recessive
- OligodendrogliomaOligodendrogliomaOligodendrogliomas are a type of glioma that are believed to originate from the oligodendrocytes of the brain or from a glial precursor cell. They occur primarily in adults but are also found in children...
- Parkinson disease
- PheochromocytomaPheochromocytomaA pheochromocytoma or phaeochromocytoma is a neuroendocrine tumor of the medulla of the adrenal glands , or extra-adrenal chromaffin tissue that failed to involute after birth and secretes excessive amounts of catecholamines, usually noradrenaline , and adrenaline to a lesser extent...
- porphyriaPorphyriaPorphyrias are a group of inherited or acquired disorders of certain enzymes in the heme bio-synthetic pathway . They are broadly classified as acute porphyrias and cutaneous porphyrias, based on the site of the overproduction and accumulation of the porphyrins...
- porphyria cutanea tardaPorphyria cutanea tardaPorphyria cutanea tarda is the most common subtype of porphyria. The disorder results from low levels of the enzyme responsible for the fifth step in heme production. Heme is a vital molecule for all of the body's organs...
- popliteal pterygium syndromePopliteal pterygium syndromePopliteal pterygium syndrome is an inherited condition affecting the face, limbs, and genitalia. The syndrome goes by a number of names including the popliteal web syndrome and, more inclusively, the facio-genito-popliteal syndrome...
- prostate cancerProstate cancerProstate cancer is a form of cancer that develops in the prostate, a gland in the male reproductive system. Most prostate cancers are slow growing; however, there are cases of aggressive prostate cancers. The cancer cells may metastasize from the prostate to other parts of the body, particularly...
- Stickler syndromeStickler syndromeStickler syndrome is a group of genetic disorders affecting connective tissue, specifically collagen. It was first studied and characterized by Gunnar B. Stickler in 1965. Stickler syndrome is a subtype of collagenopathy, types II and XI...
- Stickler syndrome, COL11A1
- TAR syndromeTAR syndromeTAR Syndrome is a rare genetic disorder that is characterized by the absence of the radius bone in the forearm, and a dramatically reduced platelet count...
- trimethylaminuriaTrimethylaminuriaTrimethylaminuria , also known as fish odor syndrome or fish malodor syndrome, is a rare metabolic disorder that causes a defect in the normal production of the enzyme Flavin containing monooxygenase 3...
- Usher syndromeUsher syndromeUsher syndrome is a relatively rare genetic disorder that is a leading cause of deafblindness and that is associated with a mutation in any one of 10 genes. Other names for Usher syndrome include Hallgren syndrome, Usher-Hallgren syndrome, rp-dysacusis syndrome and dystrophia retinae dysacusis...
- Usher syndrome type II
- Van der Woude syndromeVan der Woude syndromeVan Der Woude syndrome is a genetic disorder and congenital malformation. People with VDWS have cleft lip with or without cleft palate, pits or mucous cysts on the lower lip, hypodontia, a hypernasal voice, cleft or bifid uvula, syngnathia, narrow high arched palate, and ankyloglossia...
- Variegate porphyriaVariegate porphyriaVariegate porphyria is an autosomal dominant porphyria that can have acute symptoms along with symptoms that affect the skin...