Chromosome 19 (human)

Chromosome 19 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 19 spans more than 63 million base pairs (the building material of DNA) and represents between 2 and 2.5 percent 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 19 likely contains between 1,300 and 1,700 genes.

Genes

The following are some of the genes located on chromosome 19:

• A1BG: Plasma glycoprotein, unknown function. Gene map locus 19q13.43
• APOE: Apolipoprotein E, gene associated with Alzheimer's disease
• BCKDHA: Branched chain keto acid dehydrogenase E1, alpha polypeptide (maple syrup urine disease)
• CACNA1A: Calcium channel, voltage-dependent, P/Q type, alpha 1A subunit, mutations of which are associated with Familial hemiplegic migraine Type I
• DMPK: Dystrophia myotonica-protein kinase
• EYCL1: EYE COLOR 1; EYE COLOR, GREEN/BLUE; GEY. Gene map locus 19p13.1-q13.11 OMIM: 227240
• GCDH: Glutaryl-Coenzyme A dehydrogenase
• HAMP: Hepcidin antimicrobial peptide
• HCL1: HAIR COLOR 1; BROWN HAIR COLOR; BRHC. Gene map locus 19p13.1-q13.11 OMIM: 113750
• ICAM4: Landsteiner and Weiner glycoprotein
• KLK3: The Prostate-specific antigen (PSA)
• MCPH2: microcephaly, primary autosomal recessive 2
• NOTCH3: Notch homolog 3 (Drosophila)
• NRTN: Neurturin, associated with Hirschsprung's disease
• NWD1: NACHT and WD repeat domain containing 1.
• PEX11G: peroxisomal biogenesis factor 11 gamma
• PRX: Periaxin
• SLC5A5: Solute carrier family 5 (sodium iodide symporter), member 5
• STK11: Serine/threonine kinase 11 (Peutz-Jeghers syndrome)

Diseases & disorders

The following diseases are some of those related to genes on chromosome 19:

• Alzheimer's disease
• CADASIL
• Centronuclear myopathy autosomal dominant form
• Charcot-Marie-Tooth disease
• Congenital hypothyroidism
• Familial hemiplegic migraine
• Glutaric acidemia type 1
• Hemochromatosis
• Leber's Congenital Amaurosis
• Maple syrup urine disease
• Myotonic dystrophy
• Myotubular myopathy autosomal dominant form
• Marfan Syndrome
• Oligodendroglioma
• Peutz-Jeghers syndrome
• Spinocerebellar ataxia type-6
• X-linked agammaglobulinemia or Bruton's Disease
• Prolidase Deficiency autosomal recessive

Proteins

The Human Proteome Project (HPP) has been initiated by Human Proteome Organization (HUPO) aims to sequence the entire human proteome based on the advances in mass spectrometry and will build a global protein capture knowledge base with open sharing of proteome datasets. The proteome sequencing has been initiated with a chromosome centric and gene centric approach. Sequencing of chromosome 19 proteome will be coordinated by Prof. György Marko-Varga, Clinical Protein Science & Imaging Group, Lund University, Sweden.

References

• Gilbert F (1997). "Disease genes and chromosomes: disease maps of the human genome. Chromosome 19". Genet Test 1 (2): 145–9. doi:10.1089/gte.1997.1.145. PMID 10464639. 
• Grimwood J, Gordon LA, Olsen A, Terry A, Schmutz J, Lamerdin J, Hellsten U, Goodstein D, Couronne O, Tran-Gyamfi M, Aerts A, Altherr M, Ashworth L, Bajorek E, Black S, Branscomb E, Caenepeel S, Carrano A, Caoile C, Chan YM, Christensen M, Cleland CA, Copeland A, Dalin E, Dehal P, Denys M, Detter JC, Escobar J, Flowers D, Fotopulos D, Garcia C, Georgescu AM, Glavina T, Gomez M, Gonzales E, Groza M, Hammon N, Hawkins T, Haydu L, Ho I, Huang W, Israni S, Jett J, Kadner K, Kimball H, Kobayashi A, Larionov V, Leem SH, Lopez F, Lou Y, Lowry S, Malfatti S, Martinez D, McCready P, Medina C, Morgan J, Nelson K, Nolan M, Ovcharenko I, Pitluck S, Pollard M, Popkie AP, Predki P, Quan G, Ramirez L, Rash S, Retterer J, Rodriguez A, Rogers S, Salamov A, Salazar A, She X, Smith D, Slezak T, Solovyev V, Thayer N, Tice H, Tsai M, Ustaszewska A, Vo N, Wagner M, Wheeler J, Wu K, Xie G, Yang J, Dubchak I, Furey TS, DeJong P, Dickson M, Gordon D, Eichler EE, Pennacchio LA, Richardson P, Stubbs L, Rokhsar DS, Myers RM, Rubin EM, Lucas SM (2004). "The DNA sequence and biology of human chromosome 19". Nature 428 (6982): 529–35. doi:10.1038/nature02399. PMID 15057824. 
• Texas School for the Blind and Visually Impaired website~ http://www.tsbvi.edu/Outreach/seehear/spring01/lebers.htm
• Human Proteome Project Launch website~ http://www.hupo.org/research/hpp/HPP_legrain_sep_2010.pdf