Chromosome 10 (human)
Encyclopedia
Chromosome 10 is one of the 23 pairs of chromosome
s in human
s. People normally have two copies of this chromosome. Chromosome 10 spans about 135 million base pair
s (the building material of DNA
) and represents between 4 and 4.5 percent of the total DNA in cells
.
Identifying gene
s 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 10 likely contains between 800 and 1,200 genes.
Chromosome
A chromosome is an organized structure of DNA and protein found in cells. It is a single piece of coiled DNA containing many genes, regulatory elements and other nucleotide sequences. Chromosomes also contain DNA-bound proteins, which serve to package the DNA and control its functions.Chromosomes...
s in human
Human
Humans are the only living species in the Homo genus...
s. People normally have two copies of this chromosome. Chromosome 10 spans about 135 million base pair
Base pair
In molecular biology and genetics, the linking between two nitrogenous bases on opposite complementary DNA or certain types of RNA strands that are connected via hydrogen bonds is called a base pair...
s (the building material of DNA
DNA
Deoxyribonucleic acid is a nucleic acid that contains the genetic instructions used in the development and functioning of all known living organisms . The DNA segments that carry this genetic information are called genes, but other DNA sequences have structural purposes, or are involved in...
) and represents between 4 and 4.5 percent of the total DNA in cells
Cell (biology)
The cell is the basic structural and functional unit of all known living organisms. It is the smallest unit of life that is classified as a living thing, and is often called the building block of life. The Alberts text discusses how the "cellular building blocks" move to shape developing embryos....
.
Identifying gene
Gene
A gene is a molecular unit of heredity of a living organism. It is a name given to some stretches of DNA and RNA that code for a type of protein or for an RNA chain that has a function in the organism. Living beings depend on genes, as they specify all proteins and functional RNA chains...
s 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 10 likely contains between 800 and 1,200 genes.
Genes
The following are some of the genes located on chromosome 10:- ALOX5: Arachidonate 5-Lipoxygenase (processes essential fatty acids to leukotrienes, which are important agents in the inflammatory response; also facilitates development and maintenance of cancer stem cells, slow-dividing cells thought to give rise to a variety of cancers, including leukemia);
- CDH23CDH23Cadherin-23 is a protein that in humans is encoded by the CDH23 gene.-Further reading:...
: cadherin-like 23 - CXCL12SDF-1 (biology)SDF-1 is small cytokine belonging to the chemokine family that is officially designated Chemokine ligand 12 ....
: chemokine (C-X-C motif) ligand 12, SDF-1, scyb12 - EGR2EGR2Early growth response protein 2 is a protein that in humans is encoded by the EGR2 gene.-Further reading:-External links:* *...
: early growth response 2 (Krox-20 homolog, Drosophila) - ERCC6ERCC6DNA excision repair protein ERCC-6 is a protein that in humans is encoded by the ERCC6 gene.-External links:*...
: excision repair cross-complementing rodent repair deficiency, complementation group 6 - FGFR2: fibroblast growth factor receptor 2 (bacteria-expressed kinase, keratinocyte growth factor receptor, craniofacial dysostosis 1, Crouzon syndrome, Pfeiffer syndrome, Jackson-Weiss syndrome)
- PCBD1PCBD1Pterin-4-alpha-carbinolamine dehydratase is an enzyme that in humans is encoded by the PCBD1 gene.-Interactions:PCBD1 has been shown to interact with DYRK1B and HNF1A.-Further reading:...
: 6-pyruvoyl-tetrahydropterin synthase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1) - PCDH15PCDH15Protocadherin-15 is a protein that in humans is encoded by the PCDH15 gene.-External Links:* -Further reading:...
: protocadherinProtocadherinProtocadherins were discovered by Shintaro Suzuki's group, when they used PCR to find new members of the cadherin family. The PCR fragments that corresponded to Protocadherins were found in vertebrate and invertebrate species...
15 - PTEN gene: phosphatase and tensin homolog (mutated in multiple advanced cancers 1)
- RETRET proto-oncogeneThe RET proto-oncogene encodes a receptor tyrosine kinase for members of the glial cell line-derived neurotrophic factor family of extracellular signalling molecules....
: ret proto-oncogene (multiple endocrine neoplasia and medullary thyroid carcinoma 1, Hirschsprung disease) - UROSUrosThe Uros are a pre-Incan people who live on forty-two self-fashioned floating islands in Lake Titicaca Puno, Peru and Bolivia. They form three main groups: Uru-Chipayas, Uru-Muratos and the Uru-Iruitos...
: uroporphyrinogen III synthase (congenital erythropoietic porphyria)
Diseases & disorders
The following diseases are some of those related to genes on chromosome 10:- Apert syndromeApert syndromeApert syndrome is a form of acrocephalosyndactyly, a congenital disorder characterized by malformations of the skull, face, hands and feet. It is classified as a branchial arch syndrome, affecting the first branchial arch, the precursor of the maxilla and mandible...
- Beare-Stevenson cutis gyrata syndrome
- Charcot-Marie-Tooth diseaseCharcot-Marie-Tooth diseaseCharcot–Marie–Tooth disease- , known also as Morbus Charcot-Marie-Tooth, Charcot-Marie-Tooth neuropathy, hereditary motor and sensory neuropathy , hereditary sensorimotor neuropathy , or peroneal muscular atrophy, is an inherited disorder of nerves that takes different forms...
- Charcot-Marie-Tooth disease, type 1
- Charcot-Marie-Tooth disease, type 4
- Cockayne syndromeCockayne syndromeCockayne syndrome is a rare autosomal recessive, congenital disorder characterized by growth failure, impaired development of the nervous system, abnormal sensitivity to sunlight , and premature aging...
- congenital erythropoietic porphyria
- Cowden syndromeCowden syndromeCowden syndrome is a rare autosomal dominant inherited disorder characterized by multiple tumor-like growths called hamartomas and an increased risk of certain forms of cancer....
- Crouzon syndromeCrouzon syndromeCrouzon syndrome is a genetic disorder known as a branchial arch syndrome. Specifically, this syndrome affects the first branchial arch, which is the precursor of the maxilla and mandible...
- Hirschprung disease
- Jackson-Weiss syndromeJackson-Weiss syndromeJackson-Weiss syndrome is a genetic disorder characterized by foot abnormalities and the premature fusion of certain bones of the skull , which prevents further growth of the skull and affects the shape of the head and face...
- multiple endocrine neoplasia type 2Multiple endocrine neoplasia type 2Multiple endocrine neoplasia type 2 is a group of medical disorders associated with tumors of the endocrine system. The tumors may be benign or malignant . They generally occur in endocrine organs Multiple endocrine neoplasia type 2 (also known as "Pheochromocytoma and amyloid producing medullary...
- nonsyndromic deafnessNonsyndromic deafnessNonsyndromic deafness is hearing loss that is not associated with other signs and symptoms. In contrast, syndromic deafness involves hearing loss that occurs with abnormalities in other parts of the body....
- nonsyndromic deafness, autosomal recessive
- Pfeiffer syndromePfeiffer syndromePfeiffer syndrome is a rare genetic disorder characterized by the premature fusion of certain bones of the skull , which prevents further growth of the skull and affects the shape of the head and face...
- porphyriaPorphyriaPorphyrias are a group of inherited or acquired disorders of certain enzymes in the heme bio-synthetic pathway . They are broadly classified as acute porphyrias and cutaneous porphyrias, based on the site of the overproduction and accumulation of the porphyrins...
- tetrahydrobiopterin deficiencyTetrahydrobiopterin deficiencyTetrahydrobiopterin deficiency , also called THB or BH4 deficiency, is a rare metabolic disorder that increases the blood levels of phenylalanine. Phenylalanine is an amino acid obtained through the diet. It is found in all proteins and in some artificial sweeteners...
- Thiel-Behnke corneal dystrophyCorneal dystrophy of Bowman layer, type IICorneal dystrophy of Bowman layer, type II , or, more commonly, Thiel-Behnke dystrophy , is a rare form of human corneal dystrophy affecting the layer that supports corneal epithelium...
- Usher syndromeUsher syndromeUsher syndrome is a relatively rare genetic disorder that is a leading cause of deafblindness and that is associated with a mutation in any one of 10 genes. Other names for Usher syndrome include Hallgren syndrome, Usher-Hallgren syndrome, rp-dysacusis syndrome and dystrophia retinae dysacusis...
- Usher syndrome type I
- Wolman syndrome