WordNet

a threadlike strand of DNA in the cell nucleus that carries the genes in a linear order; "humans have 22 chromosome pairs plus two sex chromosomes"

PrepTutorEJDIC

染色体

Wikipedia preview

出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2015/10/20 18:15:23」(JST)

wiki en

Ideogram of human chromosome 14. Mbp means mega base pair. See locus for other notation.

Chromosome 14 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 14 spans about 107 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 1,300 genes.

The centromere of chromosome 14 is positioned approximately at position 19.0-19.1 Mbp.

Genes

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

ATXN3: Ataxin-3 (Machado-Joseph disease)
COCH: coagulation factor C homolog, cochlin (Limulus polyphemus)
GALC: galactosylceramidase (Krabbe disease)
GCH1: GTP cyclohydrolase 1 (dopa-responsive dystonia)
IGH@: immunoglobulin heavy chain locus
IFT43: intraflagellar transport 43
MYH7: myosin heavy chain beta (MHC-β) isoform^[2]
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
FAM71D: Family With Sequence Similarity 71, Member D

Diseases & disorders

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

alpha-1 antitrypsin deficiency
Alzheimer disease
Burkitt's lymphoma (t8;14)
congenital hypothyroidism
dopamine-responsive dystonia
Follicular lymphoma (t14;18)
Hypertrophic cardiomyopathy
Krabbe disease
Cranio–lenticulo–sutural dysplasia

Machado-Joseph disease
Mosaic monosomy 14
Multiple myeloma
Niemann-Pick disease
Nonsyndromic deafness
Sensenbrenner syndrome
Tetrahydrobiopterin deficiency
Uniparental disomy (UPD) 14

References

^ "Table 2.3: Human chromosome groups". Human Molecular Genetics (2nd ed.). Garland Science. 1999.
^ Quiat D, Voelker KA, Pei J, Grishin NV, Grange RW, Bassel-Duby R, Olson EN (June 2011). "Concerted regulation of myofiber-specific gene expression and muscle performance by the transcriptional repressor Sox6". Proc. Natl. Acad. Sci. U.S.A. 108 (25): 10196–201. doi:10.1073/pnas.1107413108. PMC 3121857. PMID 21633012.

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. doi:10.1053/hupa.2003.97. 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, Jean Weissenbach (2003). "The DNA sequence and analysis of human chromosome 14". Nature 421 (6923): 601–7. doi:10.1038/nature01348. PMID 12508121.
Kamnasaran D, Cox DW (2002). "Current status of human chromosome 14". J Med Genet 39 (2): 81–90. doi:10.1136/jmg.39.2.81. PMC 1735028. PMID 11836355.
Lemire EG, Cardwell S (1999). "Unusual phenotype in partial trisomy 14". Am J Med Genet 87 (4): 294–6. doi:10.1002/(SICI)1096-8628(19991203)87:4<294::AID-AJMG2>3.0.CO;2-S. 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. doi:10.1002/ajmg.10207. PMID 12116274.

This genetics article is a stub. You can help Wikipedia by expanding it.

UpToDate Contents

全文を閲覧するには購読必要です。 To read the full text you will need to subscribe.

1. 染色体の転座、欠失、および逆位 chromosomal translocations deletions and inversions
2. 微細欠失症候群（12番～22番染色体） microdeletion syndromes chromosomes 12 to 22
3. 成人におけるフィラデルフィア染色体陽性急性リンパ芽球性白血病に対する寛解後療法 post remission therapy for philadelphia chromosome positive acute lymphoblastic leukemia in adults
4. 先天性の細胞遺伝学的異常 congenital cytogenetic abnormalities
5. 成人におけるフィラデルフィア染色体陽性急性リンパ芽球性白血病に対する導入療法 induction therapy for philadelphia chromosome positive acute lymphoblastic leukemia in adults

English Journal

A miRNA Signature in Human Cord Blood Stem and Progenitor Cells as Potential Biomarker of Specific Acute Myeloid Leukemia Subtypes.

Cattaneo M1, Pelosi E, Castelli G, Cerio AM, D Angiò A, Porretti L, Rebulla P, Pavesi L, Russo G, Giordano A, Turri J, Cicconi L, Lo-Coco F, Testa U, Biunno I.
Journal of cellular physiology.J Cell Physiol.2015 Aug;230(8):1770-80. doi: 10.1002/jcp.24876.
MicroRNAs (miRNAs) are important regulators of several cellular processes. During hematopoiesis, specific expression signatures have been reported in different blood cell lineages and stages of hematopoietic stem cell (HSC) differentiation. Here we explored the expression of miRNAs in umbilical cord
PMID 25502508

Variation in the bovine FABP4 gene affects milk yield and milk protein content in dairy cows.

Zhou H1, Cheng L1, Azimu W2, Hodge S1, Edwards GR1, Hickford JG1.
Scientific reports.Sci Rep.2015 Jun 12;5:10023. doi: 10.1038/srep10023.
Fatty acid binding proteins (FABPs) bind long-chain fatty acids and are involved in their intracellular transport. Of the known bovine FABP genes, FABP4 has been mapped to a region on chromosome 14 that contains quantitative trait loci for milk traits. This study investigated the association of FABP
PMID 26067182

Diverse involvement of isoforms and gene aberrations of Akt in human lung carcinomas.

Dobashi Y1, Tsubochi H2, Matsubara H3, Inoue J4,5, Inazawa J4,5, Endo S2, Ooi A6.
Cancer science.Cancer Sci.2015 Jun;106(6):772-81. doi: 10.1111/cas.12669. Epub 2015 May 8.
Emerging evidence confirms a central role of Akt in cancer. To evaluate the relative contribution of deregulated Akt and their clinicopathological significance in lung carcinomas, overexpression, activation of Akt and AKT gene increases were investigated. Immunohistochemical staining for 108 cases r
PMID 25855050

Japanese Journal

Chromosome Counts for the Asian Myristicaceae (Magnoliales)

OGINUMA KAZUO,LUM SHAWN K. Y.,TOBE HIROSHI
APG : Acta phytotaxonomica et geobotanica 63(1), 41-49, 2012-10-31
… Myristicaceae, a family with pantropical distribution and sister to the rest of the Magnoliales, are poorly understood with respect to chromosome numbers. … Here we report somatic chromosome numbers of 14 species in five of the six Asian genera. … Chromosome numbers were consistent within individual genera but markedly differ among the genera. …
NAID 110009553744

臨床研究・症例報告 14番環状染色体をもつ難治性てんかんの1例

竹下佳弘,毎原敏郎
小児科臨床 65(9), 2001-2006, 2012-09
NAID 40019378219

Large-scale genome reorganization in Saccharomyces cerevisiae through combinatorial loss of mini-chromosomes(GENETICS, MOLECULAR BIOLOGY, AND GENE ENGINEERING)

Ueda Youji,Ikushima Shigehito,Sugiyama Minetaka,Matoba Ryo,Kaneko Yoshinobu,Matsubara Kenichi,Harashima Satoshi
Journal of bioscience and bioengineering 113(6), 675-682, 2012-06
… A highly efficient technique, termed PCR-mediated chromosome splitting (PCS), was used to create cells containing a variety of genomic constitutions in a haploid strain of Saccharomyces cerevisiae. … Strain SH6484 was constructed to have 14 mini-chromosomes carrying only non-essential genes by splitting chromosomes I, II, III, VIII, XI, XIII, XIV, XV, and XVI. …
NAID 110009470584

Related Pictures

★リンクテーブル★

リンク元

「14番染色体」

Chromosome 14 (human)
	Pair of human chromosome 14 (after G-banding).; One is from mother, one is from father.
	Chromosome 14 pair in human male karyogram.
Features
Length (bp)	107,043,718 bp
Number of genes	1,655
Type	Autosome
Centromere position	Acrocentric
Identifiers
RefSeq	NC_000014
GenBank	CM000676

　　[★]

英: chromosome 14
同: 第14番染色体、第14染色体

t(8;14)(q24;q32)［MYC /IgH］バーキットリンパ腫
t(14;18)［IGH /BCL2］濾胞リンパ腫

[1] "Table 2.3: Human chromosome groups". Human Molecular Genetics (2nd ed.). Garland Science. 1999.

[2] Quiat D, Voelker KA, Pei J, Grishin NV, Grange RW, Bassel-Duby R, Olson EN (June 2011). "Concerted regulation of myofiber-specific gene expression and muscle performance by the transcriptional repressor Sox6". Proc. Natl. Acad. Sci. U.S.A. 108 (25): 10196–201. doi:10.1073/pnas.1107413108. PMC 3121857. PMID 21633012.

匿名

検索

案内

案内

chromosome 14