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Encyclopedia > Chromosome 4 (human)

Chromosome 4 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 4 spans more than 186 million base pairs (the building material of DNA) and represents between 6 and 6.5 percent of the total DNA in cells. Figure 1: Chromosome. ... Binomial name Homo sapiens Linnaeus, 1758 Subspecies Homo sapiens idaltu† Homo sapiens sapiens Homo (genus). ... Headline text this website sucks your mothers dickIn molecular biology, two nucleotides on opposite complementary DNA or RNA strands that are connected via hydrogen bonds are called a base pair (often abbreviated bp). ... The general structure of a section of DNA Deoxyribonucleic acid (DNA) is a nucleic acid —usually in the form of a double helix— that contains the genetic instructions specifying the biological development of all cellular forms of life, and most viruses. ... Cells in culture, stained for keratin (red) and DNA (green). ...


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 4 likely contains between 700 and 1,100 genes. This stylistic schematic diagram shows a gene in relation to the double helix structure of DNA and to a chromosome (right). ...


Genes

The following are some of the genes located on chromosome 4:

  • ANK2: ankyrin 2, neuronal, usuckerin
  • EVC: Ellis van Creveld syndrome
  • EVC2: Ellis van Creveld syndrome 2 (limbin)
  • FGFR3: fibroblast growth factor receptor 3 (achondroplasia, thanatophoric dwarfism)
  • FGFRL1: fibroblast growth factor receptor-like 1
  • HD: huntingtin (Huntington disease)
  • MMAA: methylmalonic aciduria (cobalamin deficiency) cblA type
  • PKD2: polycystic kidney disease 2 (autosomal dominant)
  • QDPR: quinoid dihydropteridine reductase
  • SNCA: synuclein, alpha (non A4 component of amyloid precursor)
  • UCHL1: ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)
  • WFS1: Wolfram syndrome 1 (wolframin)

HD (huntingtin (Huntington disease)) is a human gene that makes a protein called huntingtin. ... QDPR (quinoid dihydropteridine reductase) is a human gene that produces the enzyme quinoid dihydropteridine reductase. ...

Diseases

The following are some of the diseases related to genes located on chromosome 4:

Achondroplasia is a type of genetic disorder that is a common cause of dwarfism. ... Cystoscopic view of a papillary bladder tumor (top); the bladder wall is visible on the bottom right Bladder cancer refers to any of several types of malignant growths of the urinary bladder. ... Crouzonodermoskeletal syndrome is a disorder characterized by the premature joining of certain bones of the skull (craniosynostosis) during development and a skin condition called acanthosis nigricans. ... Ellis-van Creveld Syndrome (also called chondroectodermal dysplasia or mesoectodermal dysplasia) is a rare genetic disorder of the skeletal dysplasia type, with numerous anomalies including post-axial polydactyly, congenital heart defects (most commonly an atrial septal defect producing a common atrium, occurring in 60% of affected individuals), pre-natal tooth... Hypochondroplasia is a developmental disorder caused by an autosomal dominant genetic defect in the fibroblast growth factor receptor 3 gene (FGFR3) that results in a disproportionately short stature, micromelia, and a head that appears large when compared with the underdeveloped portions of the body. ... Methylmalonic acidemia (MMA) is an inborn error of intermediary metabolism that may present in the early neonatal period with progressive encephalopathy and death due to a secondary hyperammonemia. ... Nonsyndromic deafness is hearing loss that is not associated with other signs and symptoms. ... Polycystic kidney disease (PKD) is a progressive, genetic disorder of the kidneys. ... Romano-Ward syndrome, is the major variant of long QT syndrome. ... SADDAN (severe achondroplasia with developmental delay and acanthosis nigricans) is a rare inherited disorder of bone growth characterized by skeletal, brain, and skin abnormalities. ... Tetrahydrobiopterin deficiency (also known as BH4 deficiency) is a rare disorder that increases the blood levels of a substance called phenylalanine. ... Thanatophoric dysplasia is a severe inherited skeletal disorder characterized by extremely short limbs and folds of extra skin on the arms and legs. ...

References

  • Goldfrank D, Schoenberger E, Gilbert F (2003). "Disease genes and chromosomes: disease maps of the human genome. Chromosome 4". Genet Test 7 (4): 351-72. PMID 15000816.
  • 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 (2005). "Generation and annotation of the DNA sequences of human chromosomes 2 and 4". Nature 434 (7034): 724-31. PMID 15815621.
Human chromosomes

{1} {2} {3} {4} {5} {6} {7} {8} {9} {10} {11} {12} {13} {14} {15} {16} {17} {18} {19} {20} {21} {22} {X} {Y} Figure 1: Chromosome. ... Chromosome 1 is one of the 23 pairs of chromosomes in humans. ... Chromosome 2 is one of the 23 pairs of chromosomes in humans. ... Chromosome 3 is one of the 23 pairs of chromosomes in humans. ... Chromosome 5 is one of the 23 pairs of chromosomes in humans. ... Chromosome 6 is one of the 23 pairs of chromosomes in humans. ... Chromosome 7 is one of the 23 pairs of chromosomes in humans. ... Chromosome 8 is one of the 23 pairs of chromosomes in humans. ... Chromosome 9 is one of the 23 pairs of chromosomes in humans. ... Chromosome 10 is one of the 23 pairs of chromosomes in humans. ... Chromosome 11 is one of the 23 pairs of chromosomes in humans. ... Chromosome 12 is one of the 23 pairs of chromosomes in humans. ... Chromosome 13 is one of the 23 pairs of chromosomes in humans. ... Chromosome 14 is one of the 23 pairs of chromosomes in humans. ... Chromosome 15 is one of the 23 pairs of chromosomes in humans. ... Chromosome 16 is one of the 23 pairs of chromosomes in humans. ... Chromosome 17 is one of the 23 pairs of chromosomes in humans. ... Chromosome 18 is one of the 23 pairs of chromosomes in humans. ... Chromosome 19 is one of the 23 pairs of chromosomes in humans. ... Chromosome 20 is one of the 23 pairs of chromosomes in humans. ... A common disease due to 3 of such chromosomes instead of the normal 2 is called Down syndrome. ... Chromosome 22 is one of the 23 pairs of chromosomes in humans. ... The X chromosome is one of the two sex chromosomes in mammals (the other is the Y chromosome). ... The human Y chromosome is one of two sex chromosomes, it contains the genes that cause testis development, thus determining maleness. ...


  Results from FactBites:
 
Chromosome 4 - Genetics Home Reference (390 words)
Chromosome 4 is one of the 23 pairs of chromosomes in humans.
Chromosome 4 spans more than 186 million base pairs (the building material of DNA) and represents between 6 and 6.5 percent of the total DNA in cells.
Genes on chromosome 4 are among the estimated 20,000 to 25,000 total genes in the human genome.
Molecular Biology databases/Bioinformatics databases-Species Specific databases (2235 words)
Chr16 TIGR - Human chromosome 16 db at TIGR
ADAbase - Human adenosine deaminase (ADA) mutation db
Galt mutation - Human galactose-1-phosphate uridylyltransferase mutation db (Galactosemia)
  More results at FactBites »

 
 

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