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Encyclopedia > Chromosome 2 (human)

Chromosome 2 is one of the tina sosnak 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 2 is the second largest human chromosome, spanning more than 237 million base pairs [1] (the building material of DNA) and representing almost 8% of the total DNA in cells. A scheme of a condensed (metaphase) chromosome. ... This article is about modern humans. ... Base pairs, of a DNA molecule. ... The structure of part of a DNA double helix Deoxyribonucleic acid, or DNA, is a nucleic acid molecule that contains the genetic instructions used in the development and functioning of all known living organisms. ... Drawing of the structure of cork as it appeared under the microscope to Robert Hooke from Micrographia which is the origin of the word cell being used to describe the smallest unit of a living organism Cells in culture, stained for keratin (red) and DNA (green) The cell is the...

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 2 likely contains between 1,300 and 1,800 genes[citation needed], including those of the HOXD homeobox gene cluster. For other uses, see Gene (disambiguation). ... A homeobox is a DNA sequence found within genes that are involved in the regulation of development (morphogenesis) of animals, fungi and plants. ...



Further information: Genes of the Chromosome 2 fusion site

Chromosome 2 is widely accepted to be a result of an end-to-end fusion of two ancestral chromosomes. [2][3] The evidence for this includes: The Chimpanzee Genome Project is an effort to determine the DNA sequence of the genome of the closest living human relatives. ...

  • The correspondence of chromosome 2 to two ape chromosomes. The closest human relative, the chimpanzee, has near-identical DNA sequences to human chromosome 2, but they are found in two separate chromosomes. The same is true of the more distant gorilla and orangutan. [4][5]
  • The presence of a vestigial centromere. Normally a chromosome has just one centromere, but in chromosome 2 we see remnants of a second. [6]
  • The presence of vestigial telomeres. These are normally found only at the ends of a chromosome, but in chromosome 2 we see additional telomere sequences in the middle. [7]
Fusion of ancestral chromosomes left distinctive remnants of telomeres, and a vestigial centromere

Chromosome 2 is thus strong evidence in favour of the common descent of humans and other apes. According to researcher J. W. IJdo:[7] Type species Simia troglodytes Blumenbach, 1775 distribution of Species Pan troglodytes Pan paniscus Chimpanzee, often shortened to chimp, is the common name for the two extant species of apes in the genus Pan. ... Type species Troglodytes gorilla Savage, 1847 distribution of Gorilla Species Gorilla gorilla Gorilla beringei The gorilla, the largest of the living primates, is a ground-dwelling omnivore that inhabits the forests of Africa. ... This article is about the primate. ... The human vermiform appendix is a vestigial structure; it no longer retains its original function. ... Chromosome. ... A telomere is a region of highly repetitive DNA at the end of a linear chromosome that functions as a disposable buffer. ... A group of organisms is said to have common descent if they have a common ancestor. ... This article is about the biological superfamily. ...

We conclude that the locus cloned in cosmids c8.1 and c29B is the relic of an ancient telomere-telomere fusion and marks the point at which two ancestral ape chromosomes fused to give rise to human chromosome 2.


The following genes are located on chromosome 2:

  • ABCA12: ATP-binding cassette, sub-family A (ABC1), member 12
  • ABCG5 and ABCG8: ATP-binding cassette, subfamily A, members 5 and 8
  • AGXT: alanine-glyoxylate aminotransferase (oxalosis I; hyperoxaluria I; glycolicaciduria; serine-pyruvate aminotransferase)
  • ALMS1: Alstrom syndrome 1
  • ALS2: amyotrophic lateral sclerosis 2 (juvenile)
  • BMPR2: bone morphogenetic protein receptor, type II (serine/threonine kinase)
  • COL3A1: collagen, type III, alpha 1 (Ehlers-Danlos syndrome type IV, autosomal dominant)
  • COL4A3: collagen, type IV, alpha 3 (Goodpasture antigen)
  • COL4A4: collagen, type IV, alpha 4
  • COL5A2: collagen, type V, alpha 2
  • HADHA: hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), alpha subunit
  • HADHB: hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), beta subunit
  • MSH2: mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)
  • MSH6: mutS homolog 6 (E. coli)
  • NR4A2: nuclear receptor subfamily 4, group A, member 2
  • OTOF: otoferlin
  • PAX3: paired box gene 3 (Waardenburg syndrome 1)
  • PAX8: paired box gene 8
  • SLC40A1: solute carrier family 40 (iron-regulated transporter), member 1
  • TPO: thyroid peroxidase

ABCA12 (ATP-binding cassette, sub-family A (ABC1), member 12) is a gene that belongs to a group of genes called the ATP-binding cassette family, which makes proteins that transport molecules across cell membranes. ... Bone morphogenetic protein receptor type II or BMPR2 is a serine/threonine receptor kinase. ... HADHA is a gene associated with long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency. ... HADHB is a subunit of the mitochondrial trifunctional protein. ... MSH2 is a gene commonly associated with Hereditary nonpolyposis colorectal cancer. ... MSH6 is a gene commonly associated with hereditary nonpolyposis colorectal cancer. ... Paired box (Pax) genes are a family of tissue specific transcription factors containing a PAIRED domain and usually a partial or complete homeodomain. ... Thyroid peroxidase is an enzyme (EC 1. ...

Related diseases & disorders

The following diseases are related to genes located on chromosome 2:

Alport syndrome is a genetic condition characterized by the progressive loss of kidney function and hearing. ... Alström syndrome is a rare genetic disorder. ... Amyotrophic Lateral Sclerosis (ALS, sometimes called Lou Gehrigs Disease, or Maladie de Charcot) is a progressive, usually fatal, neurodegenerative disease caused by the degeneration of motor neurons, the nerve cells in the central nervous system that control voluntary muscle movement. ... Congenital hypothyroidism (CHT) is a condition of thyroid hormone deficiency present at birth. ... Ehlers-Danlos syndrome is a group of rare genetic disorders affecting humans and domestic animals caused by a defect in collagen synthesis. ... It has been suggested that this article or section be merged with Sack-Barabas syndrome. ... Please wikify (format) this article or section as suggested in the Guide to layout and the Manual of Style. ... Haemochromatosis, also spelled hemochromatosis, is a hereditary disease characterized by improper processing by the body of dietary iron which causes iron to accumulate in a number of body tissues, eventually causing organ dysfunction. ... Hereditary nonpolyposis colorectal cancer (HNPCC), also known as Lynch syndrome, is characterized by an increased risk of colorectal cancer and other cancers of the endometrium, ovary, stomach, small intestine, hepatobiliary tract, upper urinary tract, brain, and skin. ... Juvenile primary lateral sclerosis (JPLS) ,also known as as primary lateral sclerois (PLSJ), is a rare genetic disorder, with a small number of reported cases, characterized by progressive weakness and stiffness of muscles in the arms, legs, and face. ... Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency, often shortened to LCHAD deficiency is a rare genetic disorder that prevents the body from converting certain fats to energy, particularly during periods of fasting. ... Maturity onset diabetes of the young (MODY) refers to any of several rare hereditary forms of diabetes mellitus due to dominantly inherited defects of insulin secretion. ... Mitochondrial trifunctional protein deficiency is a rare inherited condition that prevents the body from converting certain fats to energy, particularly during periods without food . ... Nonsyndromic deafness is hearing loss that is not associated with other signs and symptoms. ... In medicine, pulmonary hypertension (PH) or pulmonary artery hypertension (PAH) is an increase in blood pressure in the pulmonary artery or lung vasculature. ... Sitosterolemia (also known as phytosterolemia) is a rare autosomal recessively inherited lipid metabolic disorder. ... Waardenburg syndrome is a rare genetic disorder most often characterized by varying degrees of deafness, minor defects in structures arising from the neural crest, and pigmentation anomalies. ...


  1. ^ Hillier et al (2005). "Generation and annotation of the DNA sequences of human chromosomes 2 and 4". Nature 434 (7034): 724-31. PMID 15815621. 
  2. ^ Human Chromosome 2 is a fusion of two ancestral chromosomes by Alec MacAndrew; accessed 18 May 2006.
  3. ^ Evidence of Common Ancestry: Human Chromosome 2 (video) 2007
  4. ^ Yunis and Prakash (1982). "The origin of man: a chromosomal pictorial legacy". Science 215: 1525-1530. PMID 7063861. 
  5. ^ Human and Ape Chromosomes; accessed 8 September 2007.
  6. ^ Avarello et al (1992). "Evidence for an ancestral alphoid domain on the long arm of human chromosome 2". Human Genetics 89: 247-9. PMID 1587535. 
  7. ^ a b IJdo et al (1991). "Origin of human chromosome 2: an ancestral telomere-telomere fusion". Proceedings of the National Academy of Sciences 88: 9051-5. PMID 1924367. 

External Links

  • ColonCancerFamily.com FREE Newsletter: topics include Lynch Syndrome, HNPCC, Genetic Testing and more

  Results from FactBites:
Chromosome - Wikipedia, the free encyclopedia (1175 words)
Chromosomes were first observed by Karl Wilhelm von Nägeli in 1842 and their behavior later described in detail by Walther Flemming in 1882.
During meiosis, the matching chromosomes of father and mother can exchange small parts of themselves (crossover), and thus create new chromosomes that are not inherited solely from either parent.
Some chromosome abnormalities do not cause disease in carriers, such as translocations, or chromosomal inversions, although it may lead to a higher chance of having a child with an chromosome disorder.
Human and Ape Chromosomes (2885 words)
Chromosomes 3, 11, 14, 15, 18, 20, and Y look the same in three of the four species (those three being gorilla, chimps, and humans), and chromosomes 1, 2p, 2q, 5, 7 - 10, 12, and 16 are alike in two species.
Since the chromosomes were apparently joined end to end, and the ends of chromosomes (called the telomere) have a distinctive structure from the rest of the chromosome, there may be evidence of this structure in the middle of human chromosome 2 where the fusion apparently occurred.
When the vicinity of chromosome 2 where the fusion is expected to occur (based on comparison to chimp chromosomes 2p and 2q) is examined, we see first sequences that are characteristic of the pre-telomeric region, then a section of telomeric sequences, and then another section of pre-telomeric sequences.
  More results at FactBites »



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