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Encyclopedia > Chromosome 1 (human)

Chromosome 1 is, by convention, the designation for the largest human chromosome. People normally have two copies of chromosome 1, as they do with all of the autosomes, which are the non-sex chromosomes. Chromosome 1 spans about 246 million nucleotide base pairs (exactly 245,522,847), which are the basic units of information for DNA. It represents about 8% of the total DNA in human cells. Image File history File links No higher resolution available. ... Trinomial name Homo sapiens sapiens Linnaeus, 1758 Humans, or human beings, are bipedal primates belonging to the mammalian species Homo sapiens (Latin: wise man or knowing man) under the family Hominidae (the great apes). ... Figure 1: A representation of a condensed eukaryotic chromosome, as seen during cell division. ... An autosome is a non-sex chromosome. ... A sex-determination system is a biological system that determines the development of sexual characteristics in an organism. ... A nucleotide is a chemical compound that consists of a heterocyclic base, a sugar, and one or more phosphate groups. ... Base pairs, of a DNA molecule. ... The structure of part of a DNA double helix Deoxyribonucleic acid (DNA) is a nucleic acid that contains the genetic instructions for the development and function of living organisms. ...


Identifying genes on each chromosome is an active area of genetic research. Chromosome 1 contains 3,141 genes, far exceeding previous predictions of its size. It was finally sequenced two decades after the beginning of the Human Genome Project. For other meanings of this term, see gene (disambiguation). ... For a non-technical introduction to the topic, please see Introduction to genetics. ... The Human Genome Project (HGP) is a project to de-code (i. ...


The number of variations of nucleotides (SNP or single nucleotide polymorphism) is about 740,000. A Single Nucleotide Polymorphism or SNP (pronounced snip) is a DNA sequence variation occurring when a single nucleotide - A, T, C, or G - in the genome (or other shared sequence) differs between members of a species (or between paired chromosomes in an individual). ...


Genes

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

  • ACADM: acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain
  • ASPM: a brain size determinant
  • COL11A1: collagen, type XI, alpha 1
  • CPT2: carnitine palmitoyltransferase II
  • DBT: dihydrolipoamide branched chain transacylase E2
  • DIRAS3: DIRAS family, GTP-binding RAS-like 3
  • ESPN: espin (autosomal recessive deafness 36)
  • F5: coagulation factor V (proaccelerin, labile factor)
  • FMO3: flavin containing monooxygenase 3
  • GALE: UDP-galactose-4-epimerase
  • GBA: glucosidase, beta; acid (includes glucosylceramidase) (gene for Gaucher disease)
  • GJB3: gap junction protein, beta 3, 31kDa (connexin 31)
  • GLC1A: gene for glaucoma
  • HFE2: hemochromatosis type 2 (juvenile)
  • HMGCL: 3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase (hydroxymethylglutaricaciduria)
  • HPC1: gene for prostate cancer
  • IRF6: gene for connective tissue formation
  • KCNQ4: potassium voltage-gated channel, KQT-like subfamily, member 4
  • KIF1B: kinesin family member 1B
  • LMNA: lamin A/C
  • MFN2: mitofusin 2
  • MPZ: myelin protein zero (Charcot-Marie-Tooth neuropathy 1B)
  • MTHFR: 5,10-methylenetetrahydrofolate reductase (NADPH)
  • MTR: 5-methyltetrahydrofolate-homocysteine methyltransferase
  • MUTYH: mutY homolog (E. coli)
  • PARK7: Parkinson disease (autosomal recessive, early onset) 7
  • PINK1: PTEN induced putative kinase 1
  • PLOD1: procollagen-lysine 1, 2-oxoglutarate 5-dioxygenase 1
  • PPOX: protoporphyrinogen oxidase
  • PSEN2: presenilin 2 (Alzheimer disease 4)
  • SDHB: succinate dehydrogenase complex subunit B
  • TSHB: thyroid stimulating hormone, beta
  • UROD: uroporphyrinogen decarboxylase (the gene for porphyria cutanea tarda)
  • USH2A: Usher syndrome 2A (autosomal recessive, mild)

ACADM (acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain) is a gene that provides instructions for making an enzyme called acyl-coenzyme A dehydrogenase that is important for breaking down (degrading) a certain group of fats called medium-chain fatty acids. ... ASPM is a gene located on human chromosome 1, band q31 (1q31) which is associated with autosomal recessive primary microcephaly. ... A gale is a wind of at least 28 knots, 32 MPH, or 51km/h; and up to 55 knots, 63 MPH, or 102km/h. ... In medicine (hematology), Gauchers disease (or Gaucher disease) is a genetic disorder that affects white blood cells, the spleen, bones and brain. ... Prostate cancer is a disease in which cancer develops in the prostate, a gland in the male reproductive system. ... IRF6 is a gene whose function is related to the formation of connective tissue, for example that of the palate. ... Connective tissue is one of the four types of tissue in traditional classifications (the others being epithelial, muscle, and nervous tissue. ... LMNA is a lamin gene associated with Emery-Dreifuss muscular dystrophy. ... MTHFR, or Methylene-tetra-hydrofolate reductase is an enzyme that exists in human cells that assists with metabolism and the reduction of blood homocysteine levels. ... MUTYH (mutY Homolog (E. coli)) is a human gene that carries the instructions for cells to make an enzyme that is involved in the repair of DNA. This enzyme, MYH glycosylase, corrects particular mistakes that are made when DNA is copied (replicated) in preparation for cell division. ... PPOX (protoporphyrinogen oxidase) is a human gene that produces an enzyme called protoporphyrinogen oxidase. ... SDHB stands for succinate dehydrogenase complex subunit B. It is involved in the oxidation of succinate (succinate + ubiquinone = fumarate + ubiquinol) and carries electrons from FADH to CoQ. It is composed of four nuclear-encoded subunits. ... Succinate - coenzyme Q reductase also called succinate dehydrogenase is an enzyme complex found in the matrix part of the inner mitochondrial membrane. ... Uroporphyrinogen III decarboxylase (UroD) is a homodimeric enzyme (EC 4. ... The porphyrias are inherited or acquired disorders of certain enzymes in the heme biosynthetic pathway (also called porphyrin pathway). ... Usher syndrome is a genetic disease causing deaf-blindness. ...

Diseases & disorders

The following diseases are some of those related to genes on chromosome 1 (which contains the most known genetic diseases (890 total) of any human chromosome): A genetic disorder, or genetic disease is a disease caused, at least in part, by the genes of the person with the disease. ...

Breast cancer is cancer of breast tissue. ... Carnitine palmitoyltransferase II deficiency is a condition that prevents the body from converting certain fats called long-chain fatty acids into energy, particularly during periods without food. ... Charcot-Marie-Tooth disease, known also as Hereditary Motor and Sensory Neuropathy (HMSN) or Peroneal Muscular Atrophy, is a heterogeneous inherited disorder of nerves (neuropathy) that is characterized by loss of muscle tissue and touch sensation, predominantly in the feet and legs but also in the hands and arms in... To meet Wikipedias quality standards, this article may require cleanup. ... To meet Wikipedias quality standards, this article may require cleanup. ... The type II and XI collagenopathies are a group of disorders that affect connective tissue, the tissue that supports the bodys joints and organs. ... Congenital hypothyroidism (CHT) is a condition of thyroid hormone deficiency present at birth. ... This article discusses the way the word deaf is used and how deafness is perceived by hearing and Deaf communities. ... Ehlers-Danlos syndrome is a group of rare genetic disorders that diminish the bodys ability to make connective tissues. ... Factor V Leiden (sometimes Factor VLeiden) is a hypercoagulability disorder in which Factor V, one of the coagulation factors, cannot be deactivated. ... Familial adenomatous polyposis (FAP) is an inherited condition in which numerous polyps form mainly in the epithelium of the large intestine. ... Galactosemia is a rare genetic metabolic disorder which affects an individuals ability to properly digest the sugar galactose. ... In medicine (hematology), Gauchers disease (or Gaucher disease) is a genetic disorder that affects white blood cells, the spleen, bones and brain. ... Gauchers disease (pronounced ) is the most common of the lipid storage diseases. ... Gauchers disease (pronounced ) is the most common of the lipid storage diseases. ... Gauchers disease (pronounced ) is the most common of the lipid storage diseases. ... Haemochromatosis, also spelled hemochromatosis, is a hereditary disease characterized by improper processing by the body of dietary iron which causes iron to accumulate in a number of body tissues, eventually causing organ dysfunction. ... Hepatoerythropoietic porphyria is a very rare form of hepatic porphyria caused by a disorder in the gene which codes Uroporphyrinogen III decarboxylase (UROD). ... Homocystinuria, also known as Cystathionine beta synthase deficiency, is inherited disorder of the metabolism of the amino acid methionine. ... Progeria is an extremely rare genetic condition which causes physical changes that resemble greatly accelerated aging in sufferers. ... 3-hydroxy-3-methylglutaryl-CoA lyase deficiency also referred to as HMG-CoA lyase deficiency, is an uncommon inherited disorder in which the body cannot properly process the amino acid leucine. ... Maple syrup urine disease (MSUD) is an autosomal recessive metabolic disorder of amino acid metabolism. ... Medium-chain acyl-coenzyme A dehydrogenase deficiency is one of a group of conditions that is associated with inborn errors of metabolism in fatty acid oxidation. ... Muckle-Wells syndrome (MWS) is a rare autosomal dominant disease which causes sensorineural deafness, recurrent hives, and can lead to amyloidosis. ... Nonsyndromic deafness is hearing loss that is not associated with other signs and symptoms. ... Late onset progressive deafness is the most common neurological disability of the elderly. ... A pheochromocytoma (also phaeochromocytoma, English spelling) is a tumor of the medulla of the adrenal glands originating in the chromaffin cells, which secretes excessive amounts of catecholamines, usually epinephrine and norepinephrine. ... This article is about the disease. ... The porphyrias are inherited or acquired disorders of certain enzymes in the heme biosynthetic pathway (also called porphyrin pathway). ... Popliteal pterygium syndrome (PPS) is an inherited condition affecting the face, limbs, and genitalia. ... Prostate cancer is a disease in which cancer develops in the prostate, a gland in the male reproductive system. ... Stickler syndrome (or David-Stickler syndrome or Stickler-Wagner syndrome) is a group of inherited connective tissue disorders affecting collagen. ... Trimethylamine, also known as NMe3, N(CH3)3, and TMA, is a colorless, hygroscopic, and flammable simple amine with a typical fishy odor in low concentrations and an ammonia-like odor in higher concentrations. ... Usher syndrome is a genetic disease causing deaf-blindness. ... Usher syndrome is a genetic disease causing deaf-blindness. ... Van Der Woude syndrome consists of the following characteristics: cleft lip and palate, missing teeth and lip pits. ... The porphyrias are inherited or acquired disorders of certain enzymes in the heme biosynthetic pathway (also called porphyrin pathway). ...

References

  • National Institutes of Health. Chromosome 1. Genetics Home Reference. Retrieved on May 17, 2006.
  • Murphy WJ, Fronicke L, O'Brien SJ, Stanyon R (2003). "The origin of human chromosome 1 and its homologs in placental mammals". Genome Res 13 (8): 1880-8. PMID 12869576. 
  • Schutte BC, Carpten JD, Forus A, Gregory SG, Horii A, White PS (2001). "Report and abstracts of the sixth international workshop on human chromosome 1 mapping 2000. Iowa City, Iowa, USA. 30 September-3 October 2000". Cytogenet Cell Genet 92 (1-2): 23-41. PMID 11306795. 
  • Reuters Wed May 17, 2006

  Results from FactBites:
 
Chromosome 1 - Genetics Home Reference (392 words)
Chromosome 1 is one of the 23 pairs of chromosomes in humans.
Chromosome 1 is the largest human chromosome, spanning about 246 million base pairs (the building material of DNA) and representing about 8 percent of the total DNA in cells.
Genes on chromosome 1 are among the estimated 20,000 to 25,000 total genes in the human genome.
The Sanger Institute: Human Chromosome 1 Project Overview (153 words)
Chromosome 1 is the largest human chromosome and comprises approximately 300Mb of DNA (approximately 10% of the human genome).
Our aim, in close collaboration with the chromosome 1 community, is to construct a comprehensive map of human chromosome 1, including all genes and other biologically important sequences, up to the level of the DNA sequence itself.
In order to determine the complete genomic sequence of the chromosome 1, we are sequencing minimal tiling paths from our bacterial clone contigs.
  More results at FactBites »

 
 

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