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Encyclopedia > Chromosome 14 (human)

Chromosome 14 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 14 spans about 109 million base pairs (the building material of DNA) and represents between 3 and 3.5% of the total DNA in cells. Image File history File links Chromosome_14. ... Figure 1: A representation of a condensed eukaryotic chromosome, as seen during cell division. ... Trinomial name Homo sapiens sapiens Linnaeus, 1758 Humans, or human beings, are bipedal primates belonging to the mammalian species Homo sapiens (Latin for wise man or knowing man) under the family Hominidae (the great apes). ... 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 14 likely contains between 700 and 1,200 genes. For other meanings of this term, see gene (disambiguation). ...


Genes

The following are some of the genes located on chromosome 14:

  • COCH: coagulation factor C homolog, cochlin (Limulus polyphemus)
  • GALC: galactosylceramidase (Krabbe disease)
  • GCH1: GTP cyclohydrolase 1 (dopa-responsive dystonia)
  • NPC2: Niemann-Pick disease, type C2
  • PSEN1: presenilin 1 (Alzheimer disease 3)
  • SERPINA1: serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1
  • TSHR: thyroid stimulating hormone receptor

Galactosylceramidase is an enzyme which removes galactose from ceramide derivatives. ... GTP cyclohydrolase I (GTP 7,8-8,9-dihydrolase, EC 3. ...

Diseases

The following diseases are some of those related to genes on chromosome 14:

Alpha 1-antitrypsin deficiency (A1AD or Alpha-1) is a genetic disorder caused by reduced levels of alpha 1-antitrypsin in the blood. ... Congenital hypothyroidism (CHT) is a condition of thyroid hormone deficiency present at birth. ... Krabbe disease (also known as globoid cell leukodystrophy or galactosylceramide lipidosis) is a rare, often fatal degenerative disorder that affects the nervous system. ... Niemann-Pick disease is an inherited condition involving lipid metabolism (the breakdown and use of fats and cholesterol in the body) in which harmful amounts of lipids accumulate in the spleen, liver, lungs, bone marrow, and brain. ... Nonsyndromic deafness is hearing loss that is not associated with other signs and symptoms. ... Tetrahydrobiopterin deficiency (also known as BH4 deficiency) is a rare disorder that increases the blood levels of a substance called phenylalanine. ...

References

  • Campo E (2003). "Genetic and molecular genetic studies in the diagnosis of B-cell lymphomas I: mantle cell lymphoma, follicular lymphoma, and Burkitt's lymphoma". Hum Pathol 34 (4): 330-5. PMID 12733111.
  • Gilbert F (1999). "Disease genes and chromosomes: disease maps of the human genome. Chromosome 14". Genet Test 3 (4): 379-91. PMID 10627948.
  • Heilig R, Eckenberg R, Petit JL, Fonknechten N, Da Silva C, Cattolico L, Levy M, Barbe V, de Berardinis V, Ureta-Vidal A, Pelletier E, Vico V, Anthouard V, Rowen L, Madan A, Qin S, Sun H, Du H, Pepin K, Artiguenave F, Robert C, Cruaud C, Bruls T, Jaillon O, Friedlander L, Samson G, Brottier P, Cure S, Segurens B, Aniere F, Samain S, Crespeau H, Abbasi N, Aiach N, Boscus D, Dickhoff R, Dors M, Dubois I, Friedman C, Gouyvenoux M, James R, Madan A, Mairey-Estrada B, Mangenot S, Martins N, Menard M, Oztas S, Ratcliffe A, Shaffer T, Trask B, Vacherie B, Bellemere C, Belser C, Besnard-Gonnet M, Bartol-Mavel D, Boutard M, Briez-Silla S, Combette S, Dufosse-Laurent V, Ferron C, Lechaplais C, Louesse C, Muselet D, Magdelenat G, Pateau E, Petit E, Sirvain-Trukniewicz P, Trybou A, Vega-Czarny N, Bataille E, Bluet E, Bordelais I, Dubois M, Dumont C, Guerin T, Haffray S, Hammadi R, Muanga J, Pellouin V, Robert D, Wunderle E, Gauguet G, Roy A, Sainte-Marthe L, Verdier J, Verdier-Discala C, Hillier L, Fulton L, McPherson J, Matsuda F, Wilson R, Scarpelli C, Gyapay G, Wincker P, Saurin W, Quetier F, Waterston R, Hood L, Weissenbach J (2003). "The DNA sequence and analysis of human chromosome 14". Nature 421 (6923): 601-7. PMID 12508121.
  • Kamnasaran D, Cox DW (2002). "Current status of human chromosome 14". J Med Genet 39 (2): 81-90. PMID 11836355.
  • Lemire EG, Cardwell S (1999). "Unusual phenotype in partial trisomy 14". Am J Med Genet 87 (4): 294-6. PMID 10588832.
  • van Karnebeek CD, Quik S, Sluijter S, Hulsbeek MM, Hoovers JM, Hennekam RC (2002). "Further delineation of the chromosome 14q terminal deletion syndrome". Am J Med Genet 110 (1): 65-72. PMID 12116274.

  Results from FactBites:
 
Chromosome 14 Ring (1858 words)
Chromosome 14 Ring is a rare disorder that is characterized by abnormalities of the 14th chromosome.
Chromosome 14 Ring may also be characterized by other physical abnormalities, including a short neck with excessive skin folds; abnormal skin ridge patterns (dermatoglyphics), such as the presence of a single crease across the palm (simian crease); widely spaced nipples; and abnormalities of skin coloration (pigmentation).
Chromosome 14 Ring usually appears to be caused by spontaneous or "de novo" errors early during the development of the embryo.
  More results at FactBites »

 
 

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