CHROMOSOME 14 (HUMAN)

(Redirected from Chromosome 14)

'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.
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.

Contents

Genes

Diseases & disorders

References

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

Diseases & disorders

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

★ alpha-1 antitrypsin deficiency

★ Alzheimer disease

★ Alzheimer disease, type 3

★ congenital hypothyroidism

★ Krabbe disease

★ multiple myeloma

★ Niemann-Pick disease

★ nonsyndromic deafness

★ nonsyndromic deafness, autosomal dominant

★ tetrahydrobiopterin deficiency

References

★ Genetic and molecular genetic studies in the diagnosis of B-cell lymphomas I: mantle cell lymphoma, follicular lymphoma, and Burkitt's lymphoma, Campo E, , , Hum Pathol, 2003

★ Disease genes and chromosomes: disease maps of the human genome. Chromosome 14, Gilbert F, , , Genet Test, 1999

★ The DNA sequence and analysis of human chromosome 14, 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, , , Nature, 2003

★ Current status of human chromosome 14, Kamnasaran D, Cox DW, , , J Med Genet, 2002

★ Unusual phenotype in partial trisomy 14, Lemire EG, Cardwell S, , , Am J Med Genet, 1999

★ Further delineation of the chromosome 14q terminal deletion syndrome, van Karnebeek CD, Quik S, Sluijter S, Hulsbeek MM, Hoovers JM, Hennekam RC, , , Am J Med Genet, 2002