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Encyclopedia > Chromosome 13 (human)

Chromosome 13 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 13 spans about 113 million base pairs (the building material of DNA) and represents between 3.5 and 4 percent of the total DNA in cells. Figure 1: Chromosome. ... Binomial name Homo sapiens Linnaeus, 1758 Subspecies Homo sapiens idaltu(extinct) Homo sapiens sapiens Homo (genus). ... In 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). ... Space-filling model of a section of DNA molecule Deoxyribonucleic acid (DNA) is a nucleic acid 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) The cell is the structural and functional unit of all living organisms, and are sometimes called the building blocks of life. ...

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 13 likely contains between 300 and 700 genes. This stylistic schematic diagram shows a gene in relation to the double helix structure of DNA and to a chromosome (right). ...



The following are some of the genes located on chromosome 13:

  • ATP7B: ATPase, Cu++ transporting, beta polypeptide (Wilson disease)
  • BRCA2: breast cancer 2, early onset
  • EDNRB: endothelin receptor type B
  • GJB2: gap junction protein, beta 2, 26kDa (connexin 26)
  • GJB6: gap junction protein, beta 6 (connexin 30)
  • PCCA: propionyl Coenzyme A carboxylase, alpha polypeptide
  • RB1: retinoblastoma 1 (including osteosarcoma)

BRCA2 refers to either a gene (BReast-CAncer susceptibility gene 2, located on human chromosome 13, 13q12-13) or the protein coded for by that gene. ...


The following diseases are some of those related to genes on chromosome 13:

Cystoscopic view of a papillary bladder tumor (top); the bladder wall is visible on the bottom right Bladder cancer refers to any of several types of malignant growths of the urinary bladder. ... Breast cancer is cancer of breast tissue. ... Nonsyndromic deafness is hearing loss that is not associated with other signs and symptoms. ... Propionic acidemia is an inherited disorder of inborn error of intermediary metabolism that may present in the early neonatal period with progressive encephalopathy and death due to a secondary hyperammonemia. ... Retinoblastoma is a cancer of the retina. ... Waardenburg syndrome is an inherited disorder associated with hearing loss and changes in skin and hair pigmentation. ... Wilsons disease is an autosomal recessive hereditary disease, with an incidence of about 1 in 30,000. ...

Chromosomal conditions

The following conditions are caused by changes in the structure or number of copies of chromosome 13:

  • Retinoblastoma: A small percentage of retinoblastoma cases are caused by deletions in the region of chromosome 13 (13q14) containing the RB1 gene. Children with these chromosomal deletions may also have mental retardation, slow growth, and characteristic facial features (such as prominent eyebrows, a broad nasal bridge, a short nose, and ear abnormalities). Researchers have not determined which other genes are located in the deleted region, but a loss of several genes is likely responsible for these developmental problems.
  • Trisomy 13: Trisomy 13 occurs when each cell in the body has three copies of chromosome 13 instead of the usual two copies. Trisomy 13 can also result from an extra copy of chromosome 13 in only some of the body's cells (mosaic trisomy 13).

In a small percentage of cases, trisomy 13 is caused by a rearrangement of chromosomal material between chromosome 13 and another chromosome. As a result, a person has the two usual copies of chromosome 13, plus extra material from chromosome 13 attached to another chromosome. These cases are called translocation trisomy 13. Extra material from chromosome 13 disrupts the course of normal development, causing the characteristic signs and symptoms of trisomy 13. Researchers are not yet certain how this extra genetic material leads to the features of the disorder. Retinoblastoma is a cancer of the retina. ... Patau syndrome, also known as Trisomy 13, is a chromosomal aberration, a disease in which a patient has an additional chromosome 13. ...

  • Other chromosomal conditions: Partial monosomy 13q is a rare chromosomal disorder that results when a piece of the long arm (q) of chromosome 13 is missing (monosomic). Infants born with partial monosomy 13q may exhibit low birth weight, malformations of the head and face (craniofacial region), skeletal abnormalities (especially of the hands and feet), and other physical abnormalities. Mental retardation is characteristic of this condition. The mortality rate during infancy is high among individuals born with this disorder. Almost all cases of partial monosomy 13q occur randomly for no apparent reason (sporadic).


  • Baud O, Cormier-Daire V, Lyonnet S, Desjardins L, Turleau C, Doz F (1999). Dysmorphic phenotype and neurological impairment in 22 retinoblastoma patients with constitutional cytogenetic 13q deletion. Clin Genet 55 (6): 478-82. PMID 10450867
  • Dunham A, Matthews LH, Burton J, Ashurst JL, Howe KL, Ashcroft KJ, Beare DM, Burford DC, Hunt SE, Griffiths-Jones S, Jones MC, Keenan SJ, Oliver K, Scott CE, Ainscough R, Almeida JP, Ambrose KD, Andrews DT, Ashwell RI, Babbage AK, Bagguley CL, Bailey J, Bannerjee R, Barlow KF, Bates K, Beasley H, Bird CP, Bray-Allen S, Brown AJ, Brown JY, Burrill W, Carder C, Carter NP, Chapman JC, Clamp ME, Clark SY, Clarke G, Clee CM, Clegg SC, Cobley V, Collins JE, Corby N, Coville GJ, Deloukas P, Dhami P, Dunham I, Dunn M, Earthrowl ME, Ellington AG, Faulkner L, Frankish AG, Frankland J, French L, Garner P, Garnett J, Gilbert JG, Gilson CJ, Ghori J, Grafham DV, Gribble SM, Griffiths C, Hall RE, Hammond S, Harley JL, Hart EA, Heath PD, Howden PJ, Huckle EJ, Hunt PJ, Hunt AR, Johnson C, Johnson D, Kay M, Kimberley AM, King A, Laird GK, Langford CJ, Lawlor S, Leongamornlert DA, Lloyd DM, Lloyd C, Loveland JE, Lovell J, Martin S, Mashreghi-Mohammadi M, McLaren SJ, McMurray A, Milne S, Moore MJ, Nickerson T, Palmer SA, Pearce AV, Peck AI, Pelan S, Phillimore B, Porter KM, Rice CM, Searle S, Sehra HK, Shownkeen R, Skuce CD, Smith M, Steward CA, Sycamore N, Tester J, Thomas DW, Tracey A, Tromans A, Tubby B, Wall M, Wallis JM, West AP, Whitehead SL, Willey DL, Wilming L, Wray PW, Wright MW, Young L, Coulson A, Durbin R, Hubbard T, Sulston JE, Beck S, Bentley DR, Rogers J, Ross MT (2004). The DNA sequence and analysis of human chromosome 13. Nature 428 (6982): 522-8. PMID 15057823
  • Gilbert F (2000). Chromosome 13. Genet Test 4 (1): 85-94. PMID 10794368
  • Kivela T, Tuppurainen K, Riikonen P, Vapalahti M (2003). Retinoblastoma associated with chromosomal 13q14 deletion mosaicism. Ophthalmology 110 (10): 1983-8. PMID 14522775
Human chromosomes edit

{1} {2} {3} {4} {5} {6} {7} {8} {9} {10} {11} {12} {13} {14} {15} {16} {17} {18} {19} {20} {21} {22} {X} {Y} Figure 1: Chromosome. ... 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. ... A common disease due to 3 of such chromosomes instead of the normal 2 is called Down syndrome. ... The human X chromosome, is is one of the two chromosomes involved in the XY sex-determination system. ... The human Y chromosome is one of two sex chromosomes, it contains the genes that cause testis development, thus determining maleness. ...

  Results from FactBites:
Human Chromosome 13 (207 words)
Chromosome 13 is the largest human acrocentric chromosome.
The short arm of the chromosome is heterochromatic and is homologous to the short arms of chromosomes 14, 15, 21 and 22.
The systematic sequencing of chromosome 13 began at the Sanger Institute in 1998.
Ring Chromosome 13 Syndrome (1444 words)
A case of ring 13 syndrome in an 18-year-old male is presented with particular focus on mental retardation.
Furthermore, in contrast to the characteristic description of ring chromosome 13 syndrome which describes marked mental retardation a small number of cases with mild mental retardation exist.
Chromosomal analysis performed on 30 peripheral blood lymphocyte by the G-Banding technique revealed ring chromosome 13 in all 30 cells.By high- resolution G-Banding the breakpoints were identified (Fig 2)*.
  More results at FactBites »



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