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Encyclopedia > Chromosome 5 (human)

Chromosome 5 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 5 spans about 181 million base pairs (the building blocks of DNA) and represents almost 6% of the total DNA in cells. Image File history File links Wiki_letter_w. ... Image File history File links Chromosome_5. ... Figure 1: A representation of a condensed eukaryotic chromosome, as seen during cell division. ... This article is about modern humans. ... Base pairs, of a DNA molecule. ... The structure of part of a DNA double helix. ... Drawing of the structure of cork as it appeared under the microscope to Robert Hooke from Micrographia which is the origin of the word cell. 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 5 likely contains between 900 and 1,300 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 5:

  • ADAMTS2: ADAM metallopeptidase with thrombospondin type 1 motif, 2
  • APC: adenomatosis polyposis coli
  • EGR1: early growth response protein 1
  • ERCC8: excision repair cross-complementing rodent repair deficiency, complementation group 8
  • FGFR4: fibroblast growth factor receptor 4
  • GM2A: GM2 ganglioside activator
  • HEXB: hexosaminidase B (beta polypeptide)
  • MASS1: monogenic, audiogenic seizure susceptibility 1 homolog (mouse)
  • MCCC2: methylcrotonoyl-Coenzyme A carboxylase 2 (beta)
  • MTRR: 5-methyltetrahydrofolate-homocysteine methyltransferase reductase
  • NIPBL: Nipped-B homolog (Drosophila)
  • SLC22A5: solute carrier family 22 (organic cation transporter), member 5
  • SLC26A2: solute carrier family 26 (sulfate transporter), member 2
  • SMN1: survival of motor neuron 1, telomeric
  • SMN2: survival of motor neuron 2, centromeric
  • SNCAIP: synuclein, alpha interacting protein (synphilin)
  • TCOF1: Treacher Collins-Franceschetti syndrome 1
  • FGF1: fibroblast growth factor 1 (acidic fibroblast growth factor)

ADAMTS2 (ADAM metallopeptidase with thrombospondin type 1 motif, 2) is a gene that produces an enzyme that is responsible for processing several types of procollagen proteins. ... APC (adenomatosis polyposis coli) is a human gene that is classified as a tumor suppressor gene. ... Cartoon representation of Zif268 (blue) containing three zinc fingers in complex with DNA (orange). ... Hexosaminidase is an enzyme involved in the hydrolysis of several molecules containing hexose. ... On Intel P6 family processors (Pentium Pro, Pentium II and later) the Memory Type Range Registers (MTRRs) may be used to control the semantics of processor access to memory ranges. ... Solute carrier family is a classification system created by HUGO to group together carrier proteins. ... TCOF1 (Treacher Collins-Franceschetti syndrome 1) is a gene that provides instructions for making a protein called treacle. ... Fibroblast growth factors, or FGFs, are a family of growth factors involved in wound healing and embryonic development. ... Fibroblast growth factors, or FGFs, are a family of growth factors involved in wound healing and embryonic development. ...

Diseases

The following are some of the diseases related to genes located on chromosome 5:

Achondrogenesis is the most severe form of congenital chondrodysplasia (malformation of bones and cartilage). ... Atelosteogenesis, type II is a severe disorder of cartilage and bone development. ... Cockayne syndrome is a rare disorder characterized by growth failure, impaired development of the nervous system, abnormal sensitivity to sunlight (photosensitivity), and premature aging. ... Cornelia de Lange Syndrome aka CdLS is a rare genetic disorder that lead to severe developmental anomalies. ... Diastrophic dysplasia is a disorder of cartilage and bone development. ... Ehlers-Danlos syndrome is a group of rare genetic disorders that diminish the bodys ability to make connective tissues. ... Familial adenomatous polyposis (FAP) is an inherited condition in which numerous polyps form mainly in the epithelium of the large intestine. ... GM2-gangliosidosis, AB variant is a rare inherited disorder that causes progressive destruction of nerve cells in the brain and spinal cord. ... Homocystinuria, also known as Cystathionine beta synthase deficiency, is inherited disorder of the metabolism of the amino acid methionine. ... 3-methylcrotonyl-CoA carboxylase deficiency is an inherited disorder in which the body is unable to process certain proteins properly. ... Primary carnitine deficiency is a condition that prevents the body from using fats for energy, particularly during periods without food. ... Recessive multiple epiphyseal dysplasia is a disorder of cartilage and bone development. ... Sandhoff disease is a rare inherited disorder that causes progressive destruction of nerve cells in the brain and spinal cord. ... Spinal Muscular Atrophy (SMA) is a term applied to a number of different disorders, all having in common a genetic cause and the manifestation of weakness due to loss of the motor neurons of the spinal cord and brainstem. ... Treacher Collins syndrome (also known as Franceschetti-Zwahlen-Klein syndrome or mandibulofacial dysostosis) is a rare genetic disorder characterized by craniofacial deformities. ... Usher syndrome is a genetic disease causing deaf-blindness. ... Usher syndrome is a genetic disease causing deaf-blindness. ...

Chromosomal conditions

The following conditions are caused by changes in the structure or number of copies of chromosome 5:

  • Cri-du-chat syndrome is caused by a deletion of the end of the short (p) arm of chromosome 5. This chromosomal change is written as 5p-. The signs and symptoms of cri-du-chat syndrome are probably related to the loss of multiple genes in this region. Researchers have not identified all of these genes or determined how their loss leads to the features of the disorder. They have discovered, however, that a larger deletion tends to result in more severe mental retardation and developmental delays in people with cri-du-chat syndrome.

Researchers have defined narrow regions of the short arm of chromosome 5 that are associated with particular features of cri-du-chat syndrome. A specific region designated 15p15.3 is associated with a cat-like cry, and a nearby region called 15p15.2 is associated with mental retardation, small head size (microcephaly), and distinctive facial features. 5p- karyotype Cri du chat syndrome, also called deletion 5p syndrome, or 5p minus, is a rare genetic disorder due to a missing portion of chromosome 5. ...

  • Other changes in the number or structure of chromosome 5 can have a variety of effects, including delayed growth and development, distinctive facial features, birth defects, and other medical problems. Changes to chromosome 5 include an extra segment of the short (p) or long (q) arm of the chromosome in each cell (partial trisomy 5p or 5q), a missing segment of the long arm of the chromosome in each cell (partial monosomy 5q), and a circular structure called ring chromosome 5. A ring chromosome occurs when both ends of a broken chromosome are reunited.

Formation of a ring chromosome. ...

References

  • Cornish K, Bramble D (2002). "Cri du chat syndrome: genotype-phenotype correlations and recommendations for clinical management". Dev Med Child Neurol 44 (7): 494-7. PMID 12162388.
  • Mainardi PC, Perfumo C, Cali A, Coucourde G, Pastore G, Cavani S, Zara F, Overhauser J, Pierluigi M, Bricarelli FD (2001). "Clinical and molecular characterisation of 80 patients with 5p deletion: genotype-phenotype correlation". J Med Genet 38 (3): 151-8. PMID 11238681.
  • Schafer IA, Robin NH, Posch JJ, Clark BA, Izumo S, Schwartz S (2001). "Distal 5q deletion syndrome: phenotypic correlations". Am J Med Genet 103 (1): 63-8. PMID 11562936.
  • Schmutz J, Martin J, Terry A, Couronne O, Grimwood J, Lowry S, Gordon LA, Scott D, Xie G, Huang W, Hellsten U, Tran-Gyamfi M, She X, Prabhakar S, Aerts A, Altherr M, Bajorek E, Black S, Branscomb E, Caoile C, Challacombe JF, Chan YM, Denys M, Detter JC, Escobar J, Flowers D, Fotopulos D, Glavina T, Gomez M, Gonzales E, Goodstein D, Grigoriev I, Groza M, Hammon N, Hawkins T, Haydu L, Israni S, Jett J, Kadner K, Kimball H, Kobayashi A, Lopez F, Lou Y, Martinez D, Medina C, Morgan J, Nandkeshwar R, Noonan JP, Pitluck S, Pollard M, Predki P, Priest J, Ramirez L, Retterer J, Rodriguez A, Rogers S, Salamov A, Salazar A, Thayer N, Tice H, Tsai M, Ustaszewska A, Vo N, Wheeler J, Wu K, Yang J, Dickson M, Cheng JF, Eichler EE, Olsen A, Pennacchio LA, Rokhsar DS, Richardson P, Lucas SM, Myers RM, Rubin EM (2004). "The DNA sequence and comparative analysis of human chromosome 5". Nature 431 (7006): 268-74. PMID 15372022.
  • Siddiqi R, Gilbert F (2003). "Chromosome 5". Genet Test 7 (2): 169-87. PMID 12885343.
  • Wu Q, Niebuhr E, Yang H, Hansen L (2005). "Determination of the 'critical region' for cat-like cry of Cri-du-chat syndrome and analysis of candidate genes by quantitative PCR". Eur J Hum Genet 13 (4): 475-85. PMID 15657623.
  • Zhang X, Snijders A, Segraves R, Zhang X, Niebuhr A, Albertson D, Yang H, Gray J, Niebuhr E, Bolund L, Pinkel D (2005). "High-resolution mapping of genotype-phenotype relationships in cri du chat syndrome using array comparative genomic hybridization". Am J Hum Genet 76 (2): 312-26. PMID 15635506.
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 6 is one of the 23 pairs of chromosomes in humans. ... Chromosome 7 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-determining chromosomes in many animal species, including 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. ...


  Results from FactBites:
 
Y chromosome - Wikipedia, the free encyclopedia (1829 words)
The human Y chromosome is unable to recombine with the X chromosome, except for small pieces on the ends, which comprise about 5% of the chromosome's length.
Findings were confirmed by comparing similar regions of the Y chromosome in humans to the Y chromosomes of chimpanzees, bonobos (the pygmy chimpanzee) and gorillas.
In human genetic genealogy (the application of genetics to traditional genealogy) use of the information contained in the Y chromosome is of particular interest since, unlike other genes, the Y chromosome is passed exclusively from father to sons.
Human chromosome 5 completed (504 words)
Chromosome 5, the largest to be completed thus far, is made up of 180.9 million genetic letters – the As, Ts, Gs, and Cs that compose the genetic alphabet.
Other chromosome 5 genes include a cluster that codes for interleukins, molecules that are involved in immune signalling and maturation and are also implicated in asthma.
Moving evolutionarily further away, about one-third of chromosome 5 is similar to a chicken chromosome that determines the chicken's sex, much like the X and Y chromosomes in humans.
  More results at FactBites »

 
 

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