Blog Archive

Saturday, February 11, 2023

02-10-2023-2245 - Odd-toed ungulates, Perissodactyla ; eohippus, etc.

Odd-toed ungulates, mammals which constitute the taxonomic order Perissodactyla (/pəˌrɪsoʊˈdæktɪlə/, from Ancient Greek περισσός, perissós 'odd', and δάκτυλος, dáktylos 'finger, toe'[3]), are animals—ungulates—who have reduced the weight-bearing toes to three (rhinoceroses and tapirs, with tapirs still using four toes on the front legs) or one (equines, third toe) of the five original toes. The non-weight-bearing toes are either present, absent, vestigial, or positioned posteriorly. By contrast, the even-toed ungulates bear most of their weight equally on four or two (an even number) of the five toes: their third and fourth toes. Another difference between the two is that odd-toed ungulates digest plant cellulose in their intestines rather than in one or more stomach chambers as even-toed ungulates, with the exception of Suina, do.

The order includes about 17 species divided into three families: Equidae (horses, asses, and zebras), Rhinocerotidae (rhinoceroses), and Tapiridae (tapirs).

Despite their very different appearances, they were recognized as related families in the 19th century by the zoologist Richard Owen, who also coined the order name. 

Live reconstruction of chalicothere Anisodon grande (formerly Chalicotherium grande)

 

https://en.wikipedia.org/wiki/Odd-toed_ungulate 


 

Restoration by Charles Knight

 

Eohippus
Temporal range: Ypresian, 55.8–47.8 Ma
HyracotheriumVasacciensisLikeHorse.JPG
Reconstructed skeleton, National Museum of Natural History, Washington, DC, United States
Scientific classification edit
Kingdom: Animalia
Phylum: Chordata
Class: Mammalia
Order: Perissodactyla
Family: Equidae
Genus: †Eohippus
Marsh, 1876
Species:
†E. angustidens
Binomial name
†Eohippus angustidens
(Cope, 1875)
Synonyms
  • Eohippus validus
  • Hyracotherium angustidens
  • H. a. angustidens
  • H. a. etsagicum
  • H. vasacciensis
  • H. v. vasacciensis
  • H. cusptidatum
  • H. seekinsi
  • H. loevii
  • Orohippus angustidens
  • Orohippus cuspidatus
  • Orohippus vasacciensis
  • Lophiotherium vasacciense

https://en.wikipedia.org/wiki/Eohippus

 https://en.wikipedia.org/wiki/Mesohippus

https://en.wikipedia.org/wiki/Protohippus

 https://en.wikipedia.org/wiki/Acritohippus

https://en.wikipedia.org/wiki/Archaeohippus

https://en.wikipedia.org/wiki/Dinohippus

https://en.wikipedia.org/wiki/Circulatory_system_of_the_horse

https://en.wikipedia.org/wiki/Monocular_vision

https://en.wikipedia.org/wiki/Chestnut_(horse_anatomy)

https://en.wikipedia.org/wiki/Hinny

https://en.wikipedia.org/wiki/Genomic_imprinting

https://en.wikipedia.org/wiki/Uniparental_disomy

https://en.wikipedia.org/wiki/Trisomic_rescue

https://en.wikipedia.org/wiki/Isodisomy

Uniparental disomy (UPD) occurs when a person receives two copies of a chromosome, or of part of a chromosome, from one parent and no copy from the other parent.[1] UPD can be the result of heterodisomy, in which a pair of non-identical chromosomes are inherited from one parent (an earlier stage meiosis I error) or isodisomy, in which a single chromosome from one parent is duplicated (a later stage meiosis II error).[2] Uniparental disomy may have clinical relevance for several reasons. For example, either isodisomy or heterodisomy can disrupt parent-specific genomic imprinting, resulting in imprinting disorders. Additionally, isodisomy leads to large blocks of homozygosity, which may lead to the uncovering of recessive genes, a similar phenomenon seen in inbred children of consanguineous partners.[3]

UPD has been found to occur in about 1 in 2,000 births.[4]

Pathophysiology

UPD can occur as a random event during the formation of egg cells or sperm cells or may happen in early fetal development. It can also occur during trisomic rescue.

  • When the child receives two (different) homologous chromosomes (inherited from both grandparents) from one parent, this is called heterodisomic UPD. Heterodisomy (heterozygous) indicates a meiosis I error if the gene loci in question didn't cross over.[5]
  • When the child receives two (identical) replica copies of a single homologue of a chromosome, this is called an isodisomic UPD. Isodisomy (homozygous) indicates either a meiosis II (if the gene loci in question didn't cross over[5]) or postzygotic chromosomal duplication.
  • A meiosis I error can result in isodisomic UPD if the gene loci in question crossed over, for example, a distal isodisomy would be due to duplicated gene loci from the maternal grandmother that crossed over and due to an error during meiosis I, ended up in the same gamete.[5]
  • A meiosis II error can result in heterodisomy UPD if the gene loci crossed over in a similar fashion.[5]

Phenotype

Most occurrences of UPD result in no phenotypical anomalies. However, if the UPD-causing event happened during meiosis II, the genotype may include identical copies of the uniparental chromosome (isodisomy), leading to the manifestation of rare recessive disorders. UPD should be suspected in an individual manifesting a recessive disorder where only one parent is a carrier.

Uniparental inheritance of imprinted genes can also result in phenotypical anomalies. Although few imprinted genes have been identified, uniparental inheritance of an imprinted gene can result in the loss of gene function, which can lead to delayed development, intellectual disability, or other medical problems.[citation needed]

UPD has rarely been studied prospectively, with most reports focusing on either known conditions or incidental findings. It has been proposed that the incidence may not be as low as believed, rather it may be under-reported.[9]

All chromosomes

Main article: Isodisomy

Genome wide UPD, also called uniparental diploidy, is when all chromosomes are inherited from one parent. Only in mosaic form can this phenomenon be compatible with life. As of 2017, there have only been 18 reported cases of genome wide UPD.[10]

History

The first clinical case of UPD was reported in 1988 and involved a girl with cystic fibrosis and short stature who carried two copies of maternal chromosome 7.[11] Since 1991, out of the 47 possible disomies, 29 have been identified among individuals ascertained for medical reasons. This includes chromosomes 2, 5–11, 13–16, 21 and 22.

See also

https://en.wikipedia.org/wiki/Uniparental_disomy

https://en.wikipedia.org/wiki/Chromosome_14

https://en.wikipedia.org/wiki/ACIN1

https://en.wikipedia.org/wiki/FSCB

https://en.wikipedia.org/wiki/Monosomy_14

https://en.wikipedia.org/wiki/Nonsyndromic_deafness

https://en.wikipedia.org/wiki/Chromosome

Chromosome 19
Human male karyotpe high resolution - Chromosome 19 cropped.png
Human chromosome 19 pair after G-banding.
One is from mother, one is from father.
Human male karyotpe high resolution - Chromosome 19.png
Chromosome 19 pair
in human male karyogram.
Features
Length (bp)61,707,364 bp
(CHM13)
No. of genes1,357 (CCDS)[1]
TypeAutosome
Centromere positionMetacentric[2]
(26.2 Mbp[3])
Complete gene lists
CCDSGene list
HGNCGene list
UniProtGene list
NCBIGene list
External map viewers
EnsemblChromosome 19
EntrezChromosome 19
NCBIChromosome 19
UCSCChromosome 19
Full DNA sequences
RefSeqNC_000019 (FASTA)
GenBankCM000681 (FASTA)

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]

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]

Estimated by Protein-coding genes Non-coding RNA genes Pseudogenes Source Release date
CCDS 1,357 — — [1] 2016-09-08
HGNC 1,372 299 413 [7] 2017-05-12
Ensembl 1,469 894 514 [8] 2017-03-29
UniProt 1,435 — — [9] 2018-02-28
NCBI 1,430 604 528 [10][11][12] 2017-05-19

Gene list

See also: Category:Genes on human chromosome 19

The following is a partial list of genes on human chromosome 19. For complete list, see the link in the infobox on the right.

Short arm

  • CACNA1A: Calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (Familial hemiplegic migraine Type I). Gene map locus 19p13
  • COMP: Cartilage oligomeric matrix protein. Gene map locus 19p13.1
  • NOTCH3: Notch homolog 3 (Drosophila): Gene map locus 19p13.1-p13.2
  • GCDH: Glutaryl-Coenzyme A dehydrogenase. Gene map locus 19p13.2
  • ZNF121: Zinc finger protein 121. Gene map locus 19p13.2
  • BSG: Basigin (Ok blood group)/Extracellular matrix metalloproteinase inducer/CD147. Gene map locus 19p13.3
  • ICAM4: Landsteiner and Weiner glycoprotein. Gene map locus 19p13.3
  • NRTN: Neurturin, associated with Hirschsprung's disease: Gene locus map 19p13.3
  • GTPBP3: GTP binding protein 3 19p13.11
  • KLF2: Krüppel-like factor 2, also known as Lung Krüppel-like factor. Gene map locus 19p13.11 OMIM: 602016
  • FAM32A: family with sequence similarity 32 member A 19q13.11
  • DDX39: DExD-box helicase 39. Gene map locus 19p13.12

Long arm

  • GAPDHS: glyceraldehyde-3-phosphate dehydrogenase, spermatogenic 19q13.12
  • HAMP: Hepcidin antimicrobial peptide. Gene map locus 19q13.12
  • BCKDHA: Branched chain keto acid dehydrogenase E1, alpha polypeptide (maple syrup urine disease). Gene map location 19q13.1-q13.2
  • APOE: Apolipoprotein E, gene associated with Alzheimer's disease. Gene map locus 19q13.2
  • CIC: Capicua transcriptional repressor. Gene map locus 19q13.2
  • FCGBP: Fc fragment of IgG binding protein
  • SARS2: seryl-tRNA synthetase 2, mitochondrial. Gene map locus 19q13.2
  • ATP1A3: ATPase. Gene map locus 19q13.31
  • 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
  • KPTN: Kaptin (actin binding protein) at the tips of stereocilia. Gene map locus 19q13.4[13]
  • 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]

Cytogenetic band

G-banding ideograms of human chromosome 19
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]
Chr. Arm[23] Band[24] ISCN
start[25] 		ISCN
stop[25] 		Basepair
start 		Basepair
stop 		Stain[26] Density
19 p 13.3 0 578 1 6,900,000 gneg
19 p 13.2 578 870 6,900,001 12,600,000 gpos 25
19 p 13.13 870 1034 12,600,001 13,800,000 gneg
19 p 13.12 1034 1216 13,800,001 16,100,000 gpos 25
19 p 13.11 1216 1581 16,100,001 19,900,000 gneg
19 p 12 1581 1809 19,900,001 24,200,000 gvar
19 p 11 1809 1992 24,200,001 26,200,000 acen
19 q 11 1992 2159 26,200,001 28,100,000 acen
19 q 12 2159 2372 28,100,001 31,900,000 gvar
19 q 13.11 2372 2569 31,900,001 35,100,000 gneg
19 q 13.12 2569 2737 35,100,001 37,800,000 gpos 25
19 q 13.13 2737 2949 37,800,001 38,200,000 gneg
19 q 13.2 2949 3101 38,200,001 42,900,000 gpos 25
19 q 13.31 3101 3193 42,900,001 44,700,000 gneg
19 q 13.32 3193 3390 44,700,001 47,500,000 gpos 25
19 q 13.33 3390 3649 47,500,001 50,900,000 gneg
19 q 13.41 3649 3770 50,900,001 53,100,000 gpos 25
19 q 13.42 3770 3938 53,100,001 55,800,000 gneg
19 q 13.43 3938 4120 55,800,001 58,617,616 gpos 25

References


  • "Search results - 19[CHR] AND "Homo sapiens"[Organism] AND ("has ccds"[Properties] AND alive[prop]) - Gene". NCBI. CCDS Release 20 for Homo sapiens. 2016-09-08. Retrieved 2017-05-28.

  • Tom Strachan; Andrew Read (2 April 2010). Human Molecular Genetics. Garland Science. p. 45. ISBN 978-1-136-84407-2.

  • Genome Decoration Page, NCBI. Ideogram data for Homo sapience (850 bphs, Assembly GRCh38.p3). Last update 2014-06-03. Retrieved 2017-04-26.

  • Ucciferri, Charles (2004-03-31). "Gene-Rich Human Chromosome 19 Sequence Completed". DOE Joint Genome Institute. Retrieved 2022-12-10.

  • "Gene Density and Chromosome Territory Shape".

  • Pertea M, Salzberg SL (2010). "Between a chicken and a grape: estimating the number of human genes". Genome Biol. 11 (5): 206. doi:10.1186/gb-2010-11-5-206. PMC 2898077. PMID 20441615.

  • "Statistics & Downloads for chromosome 19". HUGO Gene Nomenclature Committee. 2017-05-12. Retrieved 2017-05-19.

  • "Chromosome 19: Chromosome summary - Homo sapiens". Ensembl Release 88. 2017-03-29. Retrieved 2017-05-19.

  • "Human chromosome 19: entries, gene names and cross-references to MIM". UniProt. 2018-02-28. Retrieved 2018-03-16.

  • "Search results - 19[CHR] AND "Homo sapiens"[Organism] AND ("genetype protein coding"[Properties] AND alive[prop]) - Gene". NCBI. 2017-05-19. Retrieved 2017-05-20.

  • "Search results - 19[CHR] AND "Homo sapiens"[Organism] AND ( ("genetype miscrna"[Properties] OR "genetype ncrna"[Properties] OR "genetype rrna"[Properties] OR "genetype trna"[Properties] OR "genetype scrna"[Properties] OR "genetype snrna"[Properties] OR "genetype snorna"[Properties]) NOT "genetype protein coding"[Properties] AND alive[prop]) - Gene". NCBI. 2017-05-19. Retrieved 2017-05-20.

  • "Search results - 19[CHR] AND "Homo sapiens"[Organism] AND ("genetype pseudo"[Properties] AND alive[prop]) - Gene". NCBI. 2017-05-19. Retrieved 2017-05-20.

  • Bearer EL, Chen AF, Chen AH, Li Z, Mark HF, Smith RJ, Jackson CL (2000). "2E4/Kaptin (KPTN)—a candidate gene for the hearing loss locus, DFNA4". Ann Hum Genet. 64 (3): 189–196. doi:10.1046/j.1469-1809.2000.6430189.x. PMC 3376086. PMID 11409409.

  • Dean, L. (2005). "Ch. 5: The ABO blood group". Blood Groups and Red Cell Antigens. Bethesda MD: National Center for Biotechnology Information. NBK2261.

  • 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. PMID 10464639.

  • "OMIM Entry - # 613845 - HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS SYNDROME; HUPRAS". www.omim.org. Retrieved 20 January 2017.

  • 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.

  • Genome Decoration Page, NCBI. Ideogram data for Homo sapience (400 bphs, Assembly GRCh38.p3). Last update 2014-03-04. Retrieved 2017-04-26.

  • Genome Decoration Page, NCBI. Ideogram data for Homo sapience (550 bphs, Assembly GRCh38.p3). Last update 2015-08-11. Retrieved 2017-04-26.

  • International Standing Committee on Human Cytogenetic Nomenclature (2013). ISCN 2013: An International System for Human Cytogenetic Nomenclature (2013). Karger Medical and Scientific Publishers. ISBN 978-3-318-02253-7.

  • Sethakulvichai, W.; Manitpornsut, S.; Wiboonrat, M.; Lilakiatsakun, W.; Assawamakin, A.; Tongsima, S. (2012). "Estimation of band level resolutions of human chromosome images". In Computer Science and Software Engineering (JCSSE), 2012 International Joint Conference on: 276–282. doi:10.1109/JCSSE.2012.6261965. ISBN 978-1-4673-1921-8. S2CID 16666470.

  • Genome Decoration Page, NCBI. Ideogram data for Homo sapience (850 bphs, Assembly GRCh38.p3). Last update 2014-06-03. Retrieved 2017-04-26.

  • "p": Short arm; "q": Long arm.

  • For cytogenetic banding nomenclature, see article locus.

  • 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.

    1. 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; acen Centromere. var: Variable region; stalk: Stalk.
    • Grimwood J, Gordon LA, Olsen A, Terry A, Schmutz J, Lamerdin J, Hellsten U, Goodstein D, Couronne O, Tran-Gyamfi M, Aerts A, Altherr M, Ashworth L, Bajorek E, Black S, Branscomb E, Caenepeel S, Carrano A, Caoile C, Chan YM, Christensen M, Cleland CA, Copeland A, Dalin E, Dehal P, Denys M, Detter JC, Escobar J, Flowers D, Fotopulos D, Garcia C, Georgescu AM, Glavina T, Gomez M, Gonzales E, Groza M, Hammon N, Hawkins T, Haydu L, Ho I, Huang W, Israni S, Jett J, Kadner K, Kimball H, Kobayashi A, Larionov V, Leem SH, Lopez F, Lou Y, Lowry S, Malfatti S, Martinez D, McCready P, Medina C, Morgan J, Nelson K, Nolan M, Ovcharenko I, Pitluck S, Pollard M, Popkie AP, Predki P, Quan G, Ramirez L, Rash S, Retterer J, Rodriguez A, Rogers S, Salamov A, Salazar A, She X, Smith D, Slezak T, Solovyev V, Thayer N, Tice H, Tsai M, Ustaszewska A, Vo N, Wagner M, Wheeler J, Wu K, Xie G, Yang J, Dubchak I, Furey TS, DeJong P, Dickson M, Gordon D, Eichler EE, Pennacchio LA, Richardson P, Stubbs L, Rokhsar DS, Myers RM, Rubin EM, Lucas SM (2004). "The DNA sequence and biology of human chromosome 19". Nature. 428 (6982): 529–35. Bibcode:2004Natur.428..529G. doi:10.1038/nature02399. PMID 15057824.
    • Human Proteome Project Launch website~ https://web.archive.org/web/20110726163128/http://www.hupo.org/research/hpp/HPP_legrain_sep_2010.pdf

    External links

    Wikimedia Commons has media related to Human chromosome 19.
    • National Institutes of Health. "Chromosome 19". Genetics Home Reference. Archived from the original on August 3, 2004. Retrieved 2017-05-06.
    • "Chromosome 19". Human Genome Project Information Archive 1990–2003. Retrieved 2017-05-06.

    https://en.wikipedia.org/wiki/Chromosome_19

    Number of genes

    The following are some of the gene count estimates of human chromosome 10. 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.[4]

    Estimated by Protein-coding genes Non-coding RNA genes Pseudogenes Source Release date
    CCDS 706 — — [1] 2016-09-08
    HGNC 708 244 614 [5] 2017-05-12
    Ensembl 728 881 568 [6] 2017-03-29
    UniProt 750 — — [7] 2018-02-28
    NCBI 754 842 654 [8][9][10] 2017-05-19

    Gene list

    See also: Category:Genes on human chromosome 10

    The following is a partial list of genes on human chromosome 10. For complete list, see the link in the infobox on the right.

    • AFAP1L2: actin filament associated protein 1 like 2
    • ALL1 encoding protein Leukemia, acute lymphocytic, susceptibility to, 1
    • 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)
    • ANKRD22: encoding protein Ankyrin repeat domain 22
    • ARHGAP21: rho GTPase activating protein 21
    • ARID5B: encoding protein AT-rich interactive domain-containing protein 5B
    • ARMH3: Armadillo Like Helical Domain Containing 3
    • AS3MT: encoding enzyme Arsenite methyltransferase
    • AVPI1: encoding protein Arginine vasopressin-induced protein 1
    • C10orf67: chromosome 10 open reading frame 67
    • C10orf99: encoding protein Chromosome 10 open reading frame 99
    • CAMK1D: calcium/calmodulin-dependent protein kinase ID
    • CCAR1: Cell division cycle and apoptosis regulator 1
    • CCDC3: Coiled-coil domain-containing protein 3
    • CCDC186: encoding protein CCDC186
    • CCNY: Cyclin-Y
    • CDC123: Cell division cycle protein 123 homolog
    • CDH23: cadherin-like 23
    • CDNF: cerebral dopamine neurotrophic factor
    • CEFIP: encoding protein Cardiac-enriched FHL2-interacting protein
    • COMMD3-BMI1: COMMD3-BMI1 readthrough
    • CPXM2: encoding protein Carboxypeptidase x, m14 family member 2
    • CUTC: Copper homeostasis protein cutC homolog
    • CXCL12: chemokine (C-X-C motif) ligand 12, SDF-1, scyb12
    • DDX50: DExD-box helicase 50
    • DEPP: decidual protein induced by progesterone
    • DHX32: DEAH-box helicase 32
    • DIP2C: encoding protein Disco interacting protein 2 homolog c
    • DKK1: Dickkopf-related protein 1
    • DNAJC12: DnaJ (Hsp40) homolog, subfamily c, member 12
    • DNAJC9: DnaJ (Hsp40) homolog, subfamily c, member 9
    • DPYSL4: Dihydropyrimidinase-related protein 4
    • EBLN1: encoding protein Endogenous Bornavirus-like nucleoprotein 1
    • ECD: ecdysoneless cell cycle regulator
    • EGR2: early growth response 2 (Krox-20 homolog, Drosophila)
    • EIF5AP1: eukaryotic translation initiation factor 5A-like 1
    • EPC1: Enhancer of polycomb homolog 1
    • ERCC6: excision repair cross-complementing rodent repair deficiency, complementation group 6
    • FAM107B: family with sequence similarity 107, member B
    • FAM13C: family with sequence similarity 13, member C
    • FAM170B: encoding protein Family with sequence similarity 170 member B
    • FAM188A: family with sequence similarity 188, member A
    • FAM208b: encoding protein FAM208b
    • FAM213A: family with sequence similarity 213, member A
    • FAM25BP encoding protein Protein FAM25
    • FAS-AS1, long non-coding RNA
    • FBXL15: encoding protein F-box and leucine rich repeat protein 15
    • FGFR2: fibroblast growth factor receptor 2 (bacteria-expressed kinase, keratinocyte growth factor receptor, craniofacial dysostosis 1, Crouzon syndrome, Pfeiffer syndrome, Jackson–Weiss syndrome)
    • FRA10AC1: Fragile site, folic acid type
    • FRAT1: WNT signaling pathway regulator
    • FRAT2: WNT signaling pathway regulator
    • FRMPD2 encoding protein FERM and PDZ domain containing 2
    • GATA3: encoding the GATA3 transcription factor. GATA3 is critical for the embryonic development of the parathyroid gland, neural component of hearing, and kidney. Haploinsufficiency of the gene underlies a rare disorder, the hypoparathyrodism, deafness, and renal dysplasia syndrome
    • GHITM: growth hormone-inducible transmembrane protein
    • GPRIN2: G protein-regulated inducer of neurite outgrowth 2
    • GTPBP4: Nucleolar GTP-binding protein 4
    • HELLS: Lymphoid-specific helicase
    • HKDC1: hexokinase domain containing 1
    • KIN: DNA/RNA-binding protein KIN17
    • LHPP: encoding protein Phospholysine phosphohistidine inorganic pyrophosphate phosphatase
    • MTG1: mitochondrial GTPase 1
    • NPM3: nucleoplasmin-3
    • NRBF2: nuclear receptor-binding factor 2
    • NSMCE4A: non-SMC element 4 homolog A
    • OTUD1: encoding protein OTU deubiquitinase 1
    • PAPSS2: encoding enzyme bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthase 2
    • PCBD1: 6-pyruvoyl-tetrahydropterin synthase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1)
    • PCDH15: protocadherin 15
    • PI4K2A: phosphatidylinositol 4-kinase 2-alpha
    • PIP4K2A: phosphatidylinositol 5 phosphate 4-kinase type-2 alpha
    • PITRM1: pitrilysin metallopeptidase 1
    • PLEKHS1 encoding protein Pleckstrin homology domain containing S1
    • PLXDC2: plexin domain-containing protein 2
    • PRAP1: encoding protein Proline rich acidic protein 1
    • PROSER2: proline and serine rich 2 or c10orf47
    • PTEN gene: phosphatase and tensin homolog (mutated in multiple advanced cancers 1)
    • RET: ret proto-oncogene (multiple endocrine neoplasia and medullary thyroid carcinoma 1, Hirschsprung disease)
    • RPP30: ribonuclease P protein subunit p30
    • RRP12: ribosomal RNA processing 12 homolog
    • RSU1: ras suppressor protein 1
    • RTKN2: encoding protein Rhotekin 2
    • SCZD11: encoding protein Schizophrenia susceptibility locus, chromosome 10q-related
    • SGPL1: sphingosine-1-phosphate lyase 1
    • SHTN1: encoding protein Shootin 1
    • SLC16A12: encoding protein Solute carrier family 16 member 12
    • SMNDC1: survival motor neuron domain containing 1
    • SPG9 encoding protein Spastic paraplegia 9 (autosomal dominant)
    • SRGN: serglycin
    • STAMBPL1: STAM binding protein like 1
    • STOX1: encoding protein Storkhead box 1
    • SUPV3L1: Suv3 like RNA helicase
    • SYCE1: encoding protein Synaptonemal complex central element protein 1
    • TACC2 encoding protein Transforming acidic coiled-coil-containing protein 2
    • TBC1D12: TBC1 domain family, member 12
    • TCTN3: tectonic family member 3
    • TMEM10: opalin
    • TMEM254: encoding protein Transmembrane protein 254
    • TMEM26: encoding protein Transmembrane protein 26
    • TMEM72: encoding protein Transmembrane protein 72
    • TYSND1: encoding protein Trypsin domain containing 1
    • UCN3: urocortin-3
    • UROS: uroporphyrinogen III synthase (congenital erythropoietic porphyria)
    • USMG5: Up-regulated during skeletal muscle growth protein 5
    • USP54: encoding protein Ubiquitin specific peptidase 54
    • USP6NL: USP6 N-terminal like protein
    • UTF1: undifferentiated embryonic cell transcription factor 1
    • VIM-AS1: VIM antisense RNA 1
    • WASHC2C: WASH complex subunit 2C
    • WBP1L: WW domain binding protein 1-like
    • ZNF37A: zinc finger protein 37A
    • ZNF438: zinc finger protein 438
    • ZRANB1: Zinc finger ranbp2-type containing 1

    Diseases and disorders

    The following diseases are related to genes on chromosome 10:

    Cytogenetic band

    G-banding ideograms of human chromosome 10
    G-banding ideogram of human chromosome 10 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 10 in three different resolutions (400,[11] 550[12] and 850[3]). Band length in this diagram is based on the ideograms from ISCN (2013).[13] This type of ideogram represents actual relative band length observed under a microscope at the different moments during the mitotic process.[14]
    G-bands of human chromosome 10 in resolution 850 bphs[15]
    Chr. Arm[16] Band[17] ISCN
    start[18]     		ISCN
    stop[18]     		Basepair
    start     		Basepair
    stop     		Stain[19] Density
    10 p 15.3 0 229 1 3,000,000 gneg
    10 p 15.2 229 329 3,000,001 3,800,000 gpos 25
    10 p 15.1 329 630 3,800,001 6,600,000 gneg
    10 p 14 630 917 6,600,001 12,200,000 gpos 75
    10 p 13 917 1175 12,200,001 17,300,000 gneg
    10 p 12.33 1175 1361 17,300,001 18,300,000 gpos 75
    10 p 12.32 1361 1432 18,300,001 18,400,000 gneg
    10 p 12.31 1432 1604 18,400,001 22,300,000 gpos 75
    10 p 12.2 1604 1662 22,300,001 24,300,000 gneg
    10 p 12.1 1662 1891 24,300,001 29,300,000 gpos 50
    10 p 11.23 1891 2063 29,300,001 31,100,000 gneg
    10 p 11.22 2063 2235 31,100,001 34,200,000 gpos 25
    10 p 11.21 2235 2406 34,200,001 38,000,000 gneg
    10 p 11.1 2406 2621 38,000,001 39,800,000 acen
    10 q 11.1 2621 2850 39,800,001 41,600,000 acen
    10 q 11.21 2850 3051 41,600,001 45,500,000 gneg
    10 q 11.22 3051 3252 45,500,001 48,600,000 gpos 25
    10 q 11.23 3252 3409 48,600,001 51,100,000 gneg
    10 q 21.1 3409 3753 51,100,001 59,400,000 gpos 100
    10 q 21.2 3753 3839 59,400,001 62,800,000 gneg
    10 q 21.3 3839 4097 62,800,001 68,800,000 gpos 100
    10 q 22.1 4097 4469 68,800,001 73,100,000 gneg
    10 q 22.2 4469 4655 73,100,001 75,900,000 gpos 50
    10 q 22.3 4655 4970 75,900,001 80,300,000 gneg
    10 q 23.1 4970 5200 80,300,001 86,100,000 gpos 100
    10 q 23.2 5200 5331 86,100,001 87,700,000 gneg
    10 q 23.31 5331 5558 87,700,001 91,100,000 gpos 75
    10 q 23.32 5558 5672 91,100,001 92,300,000 gneg
    10 q 23.33 5672 5887 92,300,001 95,300,000 gpos 50
    10 q 24.1 5887 5973 95,300,001 97,500,000 gneg
    10 q 24.2 5973 6131 97,500,001 100,100,000 gpos 50
    10 q 24.31 6131 6202 100,100,001 101,200,000 gneg
    10 q 24.32 6202 6317 101,200,001 103,100,000 gpos 25
    10 q 24.33 6317 6374 103,100,001 104,000,000 gneg
    10 q 25.1 6374 6646 104,000,001 110,100,000 gpos 100
    10 q 25.2 6646 6761 110,100,001 113,100,000 gneg
    10 q 25.3 6761 6890 113,100,001 117,300,000 gpos 75
    10 q 26.11 6890 7090 117,300,001 119,900,000 gneg
    10 q 26.12 7090 7219 119,900,001 121,400,000 gpos 50
    10 q 26.13 7219 7506 121,400,001 125,700,000 gneg
    10 q 26.2 7506 7721 125,700,001 128,800,000 gpos 50
    10 q 26.3 7721 8050 128,800,001 133,797,422 gneg

    References


  • "Search results - 10[CHR] AND "Homo sapiens"[Organism] AND ("has ccds"[Properties] AND alive[prop]) - Gene". NCBI. CCDS Release 20 for Homo sapiens. 2016-09-08. Retrieved 2017-05-28.

  • Tom Strachan; Andrew Read (2 April 2010). Human Molecular Genetics. Garland Science. p. 45. ISBN 978-1-136-84407-2.

  • Genome Decoration Page, NCBI. Ideogram data for Homo sapience (850 bphs, Assembly GRCh38.p3). Last update 2014-06-03. Retrieved 2017-04-26.

  • Pertea M, Salzberg SL (2010). "Between a chicken and a grape: estimating the number of human genes". Genome Biol. 11 (5): 206. doi:10.1186/gb-2010-11-5-206. PMC 2898077. PMID 20441615.

  • "Statistics & Downloads for chromosome 10". HUGO Gene Nomenclature Committee. 2017-05-12. Retrieved 2017-05-19.

  • "Chromosome 10: Chromosome summary - Homo sapiens". Ensembl Release 88. 2017-03-29. Retrieved 2017-05-19.

  • "Human chromosome 10: entries, gene names and cross-references to MIM". UniProt. 2018-02-28. Retrieved 2018-03-16.

  • "Search results - 10[CHR] AND "Homo sapiens"[Organism] AND ("genetype protein coding"[Properties] AND alive[prop]) - Gene". NCBI. 2017-05-19. Retrieved 2017-05-20.

  • "Search results - 10[CHR] AND "Homo sapiens"[Organism] AND ( ("genetype miscrna"[Properties] OR "genetype ncrna"[Properties] OR "genetype rrna"[Properties] OR "genetype trna"[Properties] OR "genetype scrna"[Properties] OR "genetype snrna"[Properties] OR "genetype snorna"[Properties]) NOT "genetype protein coding"[Properties] AND alive[prop]) - Gene". NCBI. 2017-05-19. Retrieved 2017-05-20.

  • "Search results - 10[CHR] AND "Homo sapiens"[Organism] AND ("genetype pseudo"[Properties] AND alive[prop]) - Gene". NCBI. 2017-05-19. Retrieved 2017-05-20.

  • Genome Decoration Page, NCBI. Ideogram data for Homo sapience (400 bphs, Assembly GRCh38.p3). Last update 2014-03-04. Retrieved 2017-04-26.

  • Genome Decoration Page, NCBI. Ideogram data for Homo sapience (550 bphs, Assembly GRCh38.p3). Last update 2015-08-11. Retrieved 2017-04-26.

  • International Standing Committee on Human Cytogenetic Nomenclature (2013). ISCN 2013: An International System for Human Cytogenetic Nomenclature (2013). Karger Medical and Scientific Publishers. ISBN 978-3-318-02253-7.

  • Sethakulvichai, W.; Manitpornsut, S.; Wiboonrat, M.; Lilakiatsakun, W.; Assawamakin, A.; Tongsima, S. (2012). "Estimation of band level resolutions of human chromosome images". In Computer Science and Software Engineering (JCSSE), 2012 International Joint Conference on: 276–282. doi:10.1109/JCSSE.2012.6261965. ISBN 978-1-4673-1921-8. S2CID 16666470.

  • Genome Decoration Page, NCBI. Ideogram data for Homo sapience (850 bphs, Assembly GRCh38.p3). Last update 2014-06-03. Retrieved 2017-04-26.

  • "p": Short arm; "q": Long arm.

  • For cytogenetic banding nomenclature, see article locus.

  • 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.

    1. 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; acen Centromere. var: Variable region; stalk: Stalk.
    • Deloukas P, Earthrowl ME, Grafham DV, Rubenfield M, French L, Steward CA, Sims SK, Jones MC, Searle S, Scott C, Howe K, Hunt SE, Andrews TD, Gilbert JG, Swarbreck D, Ashurst JL, Taylor A, Battles J, Bird CP, Ainscough R, Almeida JP, Ashwell RI, Ambrose KD, Babbage AK, Bagguley CL, Bailey J, Banerjee R, Bates K, Beasley H, Bray-Allen S, Brown AJ, Brown JY, Burford DC, Burrill W, Burton J, Cahill P, Camire D, Carter NP, Chapman JC, Clark SY, Clarke G, Clee CM, Clegg S, Corby N, Coulson A, Dhami P, Dutta I, Dunn M, Faulkner L, Frankish A, Frankland JA, Garner P, Garnett J, Gribble S, Griffiths C, Grocock R, Gustafson E, Hammond S, Harley JL, Hart E, Heath PD, Ho TP, Hopkins B, Horne J, Howden PJ, Huckle E, Hynds C, Johnson C, Johnson D, Kana A, Kay M, Kimberley AM, Kershaw JK, Kokkinaki M, Laird GK, Lawlor S, Lee HM, Leongamornlert DA, Laird G, Lloyd C, Lloyd DM, Loveland J, Lovell J, McLaren S, McLay KE, McMurray A, Mashreghi-Mohammadi M, Matthews L, Milne S, Nickerson T, Nguyen M, Overton-Larty E, Palmer SA, Pearce AV, Peck AI, Pelan S, Phillimore B, Porter K, Rice CM, Rogosin A, Ross MT, Sarafidou T, Sehra HK, Shownkeen R, Skuce CD, Smith M, Standring L, Sycamore N, Tester J, Thorpe A, Torcasso W, Tracey A, Tromans A, Tsolas J, Wall M, Walsh J, Wang H, Weinstock K, West AP, Willey DL, Whitehead SL, Wilming L, Wray PW, Young L, Chen Y, Lovering RC, Moschonas NK, Siebert R, Fechtel K, Bentley D, Durbin R, Hubbard T, Doucette-Stamm L, Beck S, Smith DR, Rogers J (2004). "The DNA sequence and comparative analysis of human chromosome 10". Nature. 429 (6990): 375–81. Bibcode:2004Natur.429..375D. doi:10.1038/nature02462. PMID 15164054.
    • Deloukas P, French L, Meitinger T, Moschonas NK (2000). "Report of the third international workshop on human chromosome 10 mapping and sequencing 1999". Cytogenet Cell Genet. 90 (1–2): 1–12. doi:10.1159/000015653. PMID 11060438. S2CID 28931509.
    • Gilbert F (2001). "Chromosome 10". Genet Test. 5 (1): 69–82. doi:10.1089/109065701750168824. PMID 11336406.

    External links

    Wikimedia Commons has media related to Human chromosome 10.
    • National Institutes of Health. "Chromosome 10". Genetics Home Reference. Archived from the original on 2010-04-08. Retrieved 2017-05-06.
    • "Chromosome 10". Human Genome Project Information Archive 1990–2003. Retrieved 2017-05-06.

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