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Encyclopedia > Chromosome 7

Chromosome 7 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Scientists believe that chromosome 7 spans more than 158 million base pairs (the building material of DNA) and represents between 5 and 5.5 percent of the total DNA in cells. Figure 1: Chromosome. ... Trinomial name Homo sapiens sapiens Linnaeus, 1758 Humans, or human beings, are animals biologically classified as bipedal primates belonging to the mammalian genus Homo, in particular to its only extant species, Homo sapiens (Latin for wise man or knowing man), under the family Hominidae (the great apes). ... Headline text this website sucks your mothers dickIn molecular biology, two nucleotides on opposite complementary DNA or RNA strands that are connected via hydrogen bonds are called a base pair (often abbreviated bp). ... The general structure of a section of DNA Deoxyribonucleic acid (DNA) is a nucleic acid —usually in the form of a double helix— that contains the genetic instructions specifying the biological development of all cellular forms of life, and most viruses. ... Cells in culture, stained for keratin (red) and DNA (green). ...


Identifying genes on each chromosome is an active area of genetic research. Because researchers use different approaches to predict the number of genes on each chromosome, the estimated number of genes varies. Chromosome 7 likely contains between 1,000 and 1,400 genes. This stylistic schematic diagram shows a gene in relation to the double helix structure of DNA and to a chromosome (right). ...

Contents


Genes

The following are some of the genes located on chromosome 7:

  • ASL: argininosuccinate lyase
  • CCM2: cerebral cavernous malformation 2
  • CGRP-RCP: calcitonin gene-related peptide receptor component protein
  • CFTR: cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)
  • COL1A2: collagen, type I, alpha 2
  • CYLN2: cytoplasmic linker 2
  • DFNA5: deafness, autosomal dominant 5
  • DLD: dihydrolipoamide dehydrogenase (E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex)
  • ELN: elastin (supravalvular aortic stenosis, Williams-Beuren syndrome)
  • GARS: glycyl-tRNA synthetase
  • GTF2I: general transcription factor II, i
  • GTF2IRD1: GTF2I repeat domain containing 1
  • GUSB: beta-glucuronidase
  • HSPB1: heat shock 27kDa protein 1
  • KCNH2: potassium voltage-gated channel, subfamily H (eag-related), member 2
  • KRIT1: KRIT1, ankyrin repeat containing
  • LIMK1: LIM domain kinase 1
  • p47 phox or NCF1: 47 kDa neutrophil oxidase factor / neutrophil cytosol factor 1
  • PMS2: PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
  • SBDS: Shwachman-Bodian-Diamond syndrome
  • SLC25A13: solute carrier family 25, member 13 (citrin)
  • SLC26A4: solute carrier family 26, member 4
  • TFR2: transferrin receptor 2
  • TPST1: tyrosylprotein sulfotransferase 1

ASL (argininosuccinate lyase) is a human gene that makes the protein argininosuccinate lyase, one of the enzymes controlling a series of reactions called the urea cycle. ... CFTR is also abbreviation for cystic fibrosis transmembrane conductance regulator. ... Dynamic linker from the GNU project. ... Ejército de Liberación Nacional (usually abbreviated to ELN), or National Liberation Army, is a revolutionary, Marxist, insurgent guerrilla group that has been operating in several regions of Colombia since 1966. ...

Diseases

The following diseases are some of those related to genes on chromosome 7:

Argininosuccinic aciduria is an inherited disorder that causes ammonia to accumulate in the blood. ... Asperger described his patients as little professors. Aspergers syndrome (AS), is a pervasive developmental disorder commonly referred to as a form of high-functioning autism. ... The foot of a person with Charcot-Marie-Tooth. ... To meet Wikipedias quality standards, this article may require cleanup. ... Citrullinemia s an inherited disorder that causes ammonia and other toxic substances to accumulate in the blood. ... Ehlers-Danlos syndrome is a group of rare genetic disorders that diminish the bodys ability to make connective tissues. ... 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. ... Hereditary nonpolypsis colorectal cancer (HNPCC) is characterized by an increased risk of colon cancer and other cancers such as endometrium, ovary, stomach, small intestine, hepatobiliary tract, upper urinary tract, brain, and skin. ... Maple syrup urine disease (MSUD) is an inherited metabolic disorder due to a deficiency of decarboxylase enzyme that leads to elevated concentrations of leucine, isoleucine, and valine (branched amino acids) in the blood and urine. ... Maturity onset diabetes of the young (MODY) refers to any of several rare hereditary forms of diabetes mellitus due to dominantly inherited defects of insulin secretion. ... Mucopolysaccharidosis Type VII or Sly syndrome (named after its discoverer William Sly in 1969) is also sometimes called MPS. The defective gene lies on chromosome 7. ... Mucolpolysaccharidosis Type VII or Sly syndrome (named after its discoverer William Sly in 1969) is also sometimes called MPS. The defective gene lies on chromosome 7. ... Nonsyndromic deafness is hearing loss that is not associated with other signs and symptoms. ... Osteogenesis imperfecta (OI), commonly known as brittle bone disease, is a group of genetic bone disorders. ... Pendred syndrome or Pendred disease is a genetic disorder leading to sensorineural hearing loss and goitre with occasional hypothyroidism. ... Romano-Ward syndrome, is the major variant of long QT syndrome. ... Shwachman-Diamond syndrome (SDS) is a rare congenital disorder characterized by exocrine pancreatic insufficiency, bone marrow dysfunction, skeletal abnormalities, and short stature. ... Williams syndrome (Williams-Beuren syndrome) is a rare genetic disorder, occurring in fewer than 1 in every 20,000 live births. ...

Chromosomal disorders

The following conditions are caused by changes in the structure or number of copies of chromosome 7:

  • Williams syndrome is caused by the deletion of genetic material from a portion of the long (q) arm of chromosome 7. The deleted region, which is located at position 11.23 (written as 7q11.23), is designated as the Williams syndrome critical region. This region includes more than 20 genes, and researchers believe that the characteristic features of Williams syndrome are probably related to the loss of multiple genes in this region.

While a few of the specific genes related to Williams syndrome have been identified, the relationship between most of the genes in the deleted region and the signs and symptoms of Williams syndrome is unknown. other chromosomal conditions

  • Other changes in the number or structure of chromosome 7 can cause delayed growth and development, mental retardation, characteristic facial features, skeletal abnormalities, delayed speech, and other medical problems. These changes include an extra copy of part of chromosome 7 in each cell (partial trisomy 7) or a missing segment of the chromosome in each cell (partial monosomy 7). In some cases, several DNA building blocks (nucleotides) are deleted or duplicated in part of chromosome 7. A circular structure called ring chromosome 7 is also possible. A ring chromosome occurs when both ends of a broken chromosome are reunited.

References

  • Gilbert F (2002). "Chromosome 7". Genet Test 6 (2): 141-61. PMID 12215256.
  • Hillier LW, Fulton RS, Fulton LA, Graves TA, Pepin KH, Wagner-McPherson C, Layman D, Maas J, Jaeger S, Walker R, Wylie K, Sekhon M, Becker MC, O'Laughlin MD, Schaller ME, Fewell GA, Delehaunty KD, Miner TL, Nash WE, Cordes M, Du H, Sun H, Edwards J, Bradshaw-Cordum H, Ali J, Andrews S, Isak A, Vanbrunt A, Nguyen C, Du F, Lamar B, Courtney L, Kalicki J, Ozersky P, Bielicki L, Scott K, Holmes A, Harkins R, Harris A, Strong CM, Hou S, Tomlinson C, Dauphin-Kohlberg S, Kozlowicz-Reilly A, Leonard S, Rohlfing T, Rock SM, Tin-Wollam AM, Abbott A, Minx P, Maupin R, Strowmatt C, Latreille P, Miller N, Johnson D, Murray J, Woessner JP, Wendl MC, Yang SP, Schultz BR, Wallis JW, Spieth J, Bieri TA, Nelson JO, Berkowicz N, Wohldmann PE, Cook LL, Hickenbotham MT, Eldred J, Williams D, Bedell JA, Mardis ER, Clifton SW, Chissoe SL, Marra MA, Raymond C, Haugen E, Gillett W, Zhou Y, James R, Phelps K, Iadanoto S, Bubb K, Simms E, Levy R, Clendenning J, Kaul R, Kent WJ, Furey TS, Baertsch RA, Brent MR, Keibler E, Flicek P, Bork P, Suyama M, Bailey JA, Portnoy ME, Torrents D, Chinwalla AT, Gish WR, Eddy SR, McPherson JD, Olson MV, Eichler EE, Green ED, Waterston RH, Wilson RK (2003). "The DNA sequence of human chromosome 7". Nature 424 (6945): 157-64. PMID 12853948.
  • Lichtenbelt KD, Hochstenbach R, van Dam WM, Eleveld MJ, Poot M, Beemer FA (2005). "Supernumerary ring chromosome 7 mosaicism: case report, investigation of the gene content, and delineation of the phenotype". Am J Med Genet A 132 (1): 93-100. PMID 15580634.
  • Rodriguez L, Lopez F, Paisan L, de la Red Mdel M, Ruiz AM, Blanco M, Antelo Cortizas J, Martinez-Frias ML (2002). "Pure partial trisomy 7q: two new patients and review". Am J Med Genet 113 (2): 218-24. PMID 12407716.
  • Scherer SW, Cheung J, MacDonald JR, Osborne LR, Nakabayashi K, Herbrick JA, Carson AR, Parker-Katiraee L, Skaug J, Khaja R, Zhang J, Hudek AK, Li M, Haddad M, Duggan GE, Fernandez BA, Kanematsu E, Gentles S, Christopoulos CC, Choufani S, Kwasnicka D, Zheng XH, Lai Z, Nusskern D, Zhang Q, Gu Z, Lu F, Zeesman S, Nowaczyk MJ, Teshima I, Chitayat D, Shuman C, Weksberg R, Zackai EH, Grebe TA, Cox SR, Kirkpatrick SJ, Rahman N, Friedman JM, Heng HH, Pelicci PG, Lo-Coco F, Belloni E, Shaffer LG, Pober B, Morton CC, Gusella JF, Bruns GA, Korf BR, Quade BJ, Ligon AH, Ferguson H, Higgins AW, Leach NT, Herrick SR, Lemyre E, Farra CG, Kim HG, Summers AM, Gripp KW, Roberts W, Szatmari P, Winsor EJ, Grzeschik KH, Teebi A, Minassian BA, Kere J, Armengol L, Pujana MA, Estivill X, Wilson MD, Koop BF, Tosi S, Moore GE, Boright AP, Zlotorynski E, Kerem B, Kroisel PM, Petek E, Oscier DG, Mould SJ, Dohner H, Dohner K, Rommens JM, Vincent JB, Venter JC, Li PW, Mural RJ, Adams MD, Tsui LC (2003). "Human chromosome 7: DNA sequence and biology". Science 300 (5620): 767-72. PMID 12690205.
  • Velagaleti GV, Jalal SM, Kukolich MK, Lockhart LH, Tonk VS (2002). "De novo supernumerary ring chromosome 7: first report of a non-mosaic patient and review of the literature". Clin Genet 61 (3): 202-6. PMID 12000362.
Human chromosomes

{1} {2} {3} {4} {5} {6} {7} {8} {9} {10} {11} {12} {13} {14} {15} {16} {17} {18} {19} {20} {21} {22} {X} {Y} The human genome is the genome of Homo sapiens. ... Chromosome 1 is, by convention, the designation for the largest human chromosome. ... Chromosome 2 is one of the 23 pairs of chromosomes in humans. ... Chromosome 3 is one of the 23 pairs of chromosomes in humans. ... Chromosome 4 is one of the 23 pairs of chromosomes in humans. ... Chromosome 5 is one of the 23 pairs of chromosomes in humans. ... Chromosome 6 is one of the 23 pairs of chromosomes in humans. ... Chromosome 8 is one of the 23 pairs of chromosomes in humans. ... Chromosome 9 is one of the 23 pairs of chromosomes in humans. ... Chromosome 10 is one of the 23 pairs of chromosomes in humans. ... Chromosome 11 is one of the 23 pairs of chromosomes in humans. ... Chromosome 12 is one of the 23 pairs of chromosomes in humans. ... Chromosome 13 is one of the 23 pairs of chromosomes in humans. ... Chromosome 14 is one of the 23 pairs of chromosomes in humans. ... Chromosome 15 is one of the 23 pairs of chromosomes in humans. ... Chromosome 16 is one of the 23 pairs of chromosomes in humans. ... Chromosome 17 is one of the 23 pairs of chromosomes in humans. ... Chromosome 18 is one of the 23 pairs of chromosomes in humans. ... Chromosome 19 is one of the 23 pairs of chromosomes in humans. ... Chromosome 20 is one of the 23 pairs of chromosomes in humans. ... A common disease due to 3 of such chromosomes instead of the normal 2 is called Down syndrome. ... Chromosome 22 is one of the 23 pairs of chromosomes in humans. ... The X chromosome is one of the two sex chromosomes in mammals (the other is the Y chromosome). ... The human Y chromosome is one of two sex chromosomes, it contains the genes that cause testis development, thus determining maleness. ...


 
 

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