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 61.7 million base pairs, the building material of DNA. It is considered the most gene-rich chromosome containing roughly 1,500 genes, despite accounting for only 2 percent of the human genome.[4][5]
Genes
Number of genes
The following are some of the gene count estimates of human chromosome 19. Because researchers use different approaches to genome annotation, their predictions of the number of genes on each chromosome varies (for technical details, see gene prediction). Among various projects, the collaborative consensus coding sequence project (CCDS) takes an extremely conservative strategy. So CCDS's gene number prediction represents a lower bound on the total number of human protein-coding genes.[6]
DMWD: DM1 locus, WD repeat containing. Gene map locus 19q13.32
PNMA8A: paraneoplastic Ma antigen family member 8A 19q13.32
DMPK: Dystrophia myotonica-protein kinase. Gene map locus 19q13.32
GLTSCR2: Glioma tumor suppressor candidate region gene 2 protein 19q13.33
A1BG: Plasma glycoprotein, unknown function. Gene map locus 19q13.43
LRC: The Leukocyte Receptor Complex is a family of immunoreceptors expressed predominantly on monocytes and B cells and at lower levels on dendritic cells and natural killer (NK) cells. The LRC also includes the KIR locus. Gene map locus 19q13.4 OMIM: 604812
FUT1: The H locus is located on chromosome 19 at 19q13.3. It contains three exons that span more than 5 kb of genomic DNA, and it encodes a fucosyltransferase that produces the H antigen on RBCs.[14]
FUT2: The Se locus is located on chromosome 19 at 19q13.3. It contains two exons that span about 25 kb of genomic DNA. The Se locus encodes a specific fucosyltransferase that is expressed in the epithelia of secretory tissues, such as salivary glands, the gastrointestinal tract, and the respiratory tract. The enzyme it encodes catalyzes the production of H antigen.[14]
MORT (Mortal Obligate RNA Transcript, lincRNA): Gene map locus 19q13.43
Diseases and disorders
The following diseases are some of those related to genes on chromosome 19:[15]
G-banding ideogram of human chromosome 19 in resolution 850 bphs. Band length in this diagram is proportional to base-pair length. This type of ideogram is generally used in genome browsers (e.g. Ensembl, UCSC Genome Browser).
G-banding patterns of human chromosome 19 in three different resolutions (400,[18] 550[19] and 850[3]). Band length in this diagram is based on the ideograms from ISCN (2013).[20] This type of ideogram represents actual relative band length observed under a microscope at the different moments during the mitotic process.[21]
G-bands of human chromosome 19 in resolution 850 bphs[22]
^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. PMID10464639.
^Moss, K (Spring 2001). "Leber's Congenital Amaurosis". Texas Deafblind Outreach. Texas School for the Blind and Visually Impaired. Archived from the original on November 19, 2013.
^For cytogenetic banding nomenclature, see article locus.
^ abThese values (ISCN start/stop) are based on the length of bands/ideograms from the ISCN book, An International System for Human Cytogenetic Nomenclature (2013). Arbitrary unit.
^gpos: Region which is positively stained by G banding, generally AT-rich and gene poor; gneg: Region which is negatively stained by G banding, generally CG-rich and gene rich; acenCentromere. var: Variable region; stalk: Stalk.
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