Chromosome 4 is one of the 23 pairs of
chromosome
A chromosome is a package of DNA containing part or all of the genetic material of an organism. In most chromosomes, the very long thin DNA fibers are coated with nucleosome-forming packaging proteins; in eukaryotic cells, the most import ...
s in
humans. People normally have two copies of this chromosome. Chromosome 4 spans more than 190 million
base pair
A base pair (bp) is a fundamental unit of double-stranded nucleic acids consisting of two nucleobases bound to each other by hydrogen bonds. They form the building blocks of the DNA double helix and contribute to the folded structure of both DNA ...
s (the building material of
DNA) and represents between 6 and 6.5 percent of the total DNA in
cells.
Genomics
The chromosome is ~193 megabases in length. In a 2012 paper, 775 protein-encoding genes were identified on this chromosome.
[Chen LC, Liu MY, Hsiao YC, Choong WK, Wu HY, Hsu WL, Liao PC, Sung TY, Tsai SF, Yu JS, Chen YJ (2012) Decoding the disease-associated proteins encoded in the human chromosome 4. J Proteome Res] 211 (27.9%) of these coding sequences did not have any experimental evidence at the protein level, in 2012. 271 appear to be membrane proteins. 54 have been classified as cancer-associated proteins.
Genes
Number of genes
The following are some of the gene count estimates of human chromosome 4. 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.
[ ]
Gene list
The following is a partial list of genes on human chromosome 4. For complete list, see the link in the infobox on the right.
Diseases and disorders
The following are some of the diseases related to genes located on chromosome 4:
*
Achondroplasia
*
Autosomal dominant polycystic kidney disease (PKD-2)
*
Bladder cancer
*
Crouzonodermoskeletal syndrome
*
Chronic lymphocytic leukemia
Chronic lymphocytic leukemia (CLL) is a type of cancer that affects the blood and bone marrow. In CLL, the bone marrow makes too many lymphocytes, which are a type of white blood cell. In patients with CLL, B cell lymphocytes can begin to colle ...
*
Congenital central hypoventilation syndrome
*
Ellis–Van Creveld syndrome
*
Facioscapulohumeral muscular dystrophy
*
Fibrodysplasia ossificans progressiva (FOP)
*
Haemophilia C
*
Huntington's disease
*
Hemolytic uremic syndrome
*
Hereditary benign intraepithelial dyskeratosis
*
Hirschprung's disease
*
Hypochondroplasia
*
Mast cell activation syndrome
*
Methylmalonic acidemia
*
Mucopolysaccharidosis type I
*
Muenke syndrome
*
Nonsyndromic deafness
*
Nonsyndromic deafness, autosomal dominant
*
Parkinson's disease
Parkinson's disease (PD), or simply Parkinson's, is a neurodegenerative disease primarily of the central nervous system, affecting both motor system, motor and non-motor systems. Symptoms typically develop gradually and non-motor issues become ...
*
Polycystic kidney disease
*
Romano–Ward syndrome
*
SADDAN
*
Tetrahydrobiopterin deficiency
*
Thanatophoric dysplasia
**
Type 1
**
Type 2
*
Wolfram syndrome
*
Wolf–Hirschhorn syndrome
Cytogenetic band
{, class="wikitable" style="text-align:right"
, +
G-bands of human chromosome 4 in resolution 850 bphs
! Chr.
! Arm
! Band
! ISCN
start
[These 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.]
! ISCN
stop
! Basepair
start
! Basepair
stop
! Stain
[gpos: Region which is positively stained by ]G banding
G-banding, G banding or Giemsa banding is a technique used in cytogenetics to produce a visible karyotype by staining condensed chromosomes. It is the most common chromosome banding method. It is useful for identifying genetic diseases (mainly chr ...
, generally AT-rich and gene poor; gneg: Region which is negatively stained by G banding, generally CG-rich and gene rich; acen Centromere. var: Variable region; stalk: Stalk.
! Density
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References
{{reflist
Further reading
{{refbegin
* {{cite journal , vauthors = Goldfrank D, Schoenberger E, Gilbert F , title = Disease genes and chromosomes: disease maps of the human genome. Chromosome 4 , journal = Genet Test , year = 2003 , pages = 351–72 , volume = 7 , issue = 4 , pmid = 15000816 , doi=10.1089/109065703322783752
* {{cite journal , vauthors=Hillier LW, Graves TA, Fulton RS, Fulton LA, Pepin KH, Minx P, Wagner-McPherson C, Layman D, Wylie K, Sekhon M, Becker MC, Fewell GA, Delehaunty KD, Miner TL, Nash WE, Kremitzki C, Oddy L, Du H, Sun H, Bradshaw-Cordum H, Ali J, Carter J, Cordes M, Harris A, Isak A, van Brunt A, Nguyen C, Du F, Courtney L, Kalicki J, Ozersky P, Abbott S, Armstrong J, Belter EA, Caruso L, Cedroni M, Cotton M, Davidson T, Desai A, Elliott G, Erb T, Fronick C, Gaige T, Haakenson W, Haglund K, Holmes A, Harkins R, Kim K, Kruchowski SS, Strong CM, Grewal N, Goyea E, Hou S, Levy A, Martinka S, Mead K, McLellan MD, Meyer R, Randall-Maher J, Tomlinson C, Dauphin-Kohlberg S, Kozlowicz-Reilly A, Shah N, Swearengen-Shahid S, Snider J, Strong JT, Thompson J, Yoakum M, Leonard S, Pearman C, Trani L, Radionenko M, Waligorski JE, Wang C, Rock SM, Tin-Wollam AM, Maupin R, Latreille P, Wendl MC, Yang SP, Pohl C, Wallis JW, Spieth J, Bieri TA, Berkowicz N, Nelson JO, Osborne J, Ding L, Meyer R, Sabo A, Shotland Y, Sinha P, Wohldmann PE, Cook LL, Hickenbotham MT, Eldred J, Williams D, Jones TA, She X, Ciccarelli FD, Izaurralde E, Taylor J, Schmutz J, Myers RM, Cox DR, Huang X, McPherson JD, Mardis ER, Clifton SW, Warren WC, Chinwalla AT, Eddy SR, Marra MA, Ovcharenko I, Furey TS, Miller W, Eichler EE, Bork P, Suyama M, Torrents D, Waterston RH, Wilson RK , title = Generation and annotation of the DNA sequences of human chromosomes 2 and 4 , journal = Nature , volume = 434 , issue = 7034 , pages = 724–31 , date = April 2005 , pmid = 15815621 , doi = 10.1038/nature03466 , display-authors = 6, bibcode = 2005Natur.434..724H , doi-access = free
{{refend
External links
{{Commons category, Human chromosome 4
* {{cite web , author= National Institutes of Health , title= Chromosome 4 , work= Genetics Home Reference , url= http://ghr.nlm.nih.gov/chromosome=4 , archive-url= https://web.archive.org/web/20040803055736/http://ghr.nlm.nih.gov/chromosome=4 , url-status= dead , archive-date= August 3, 2004 , access-date= 2017-05-06
* {{Cite web, url=http://web.ornl.gov/sci/techresources/Human_Genome/posters/chromosome/chromo04.shtml, title=Chromosome 4, website=Human Genome Project Information Archive 1990–2003, access-date=2017-05-06
{{Chromosomes
{{Chromosome genetics
{{DEFAULTSORT:Chromosome 04 (Human)
Chromosome 04
*