„SHOX“ – Versionsunterschied

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{{Infobox Protein
{{PBB|geneid=6473}}
| Name = Short stature homeobox
'''Short stature homeobox gene''' or '''SHOX''' is a [[gene]] on the [[X chromosome]] and [[Y chromosome]] which is associated with [[short stature]] in humans if mutated or present in only one copy ([[haploinsufficiency]]).
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| PDB =
| Groesse =
| Kofaktor =
| Precursor =
| Struktur =
| Isoformen =
| HGNCid =
| Symbol = SHOX
| AltSymbols =
| OMIM = 312865
| HomoloGene = 55463
| MGIid =
| ATC-Code =
| CAS =
| CASergänzend =
| DrugBank =
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| Taxon =
| Taxon_Ausnahme =
| Orthologe = {{ Protein Orthologe
| Spezies1 =
| Spezies2 =
| S1_EntrezGene =
| S1_Ensembl =
| S1_RefseqmRNA =
| S1_RefseqProtein =
| S1_GenLoc_db =
| S1_GenLoc_chr =
| S1_GenLoc_start =
| S1_GenLoc_end =
| S1_Uniprot =
| S2_EntrezGene = 6473
| S2_Ensembl = ENSG00000185960
| S2_RefseqmRNA = NM_000451
| S2_RefseqProtein = NP_000442
| S2_GenLoc_db =
| S2_GenLoc_chr = X
| S2_GenLoc_start = 0.51
| S2_GenLoc_end = 0.54
| S2_Uniprot = O15266
}}
}}


'''Short stature homeobox gene''' or '''SHOX''' ist ein [[Gen]] auf dem [[X-Chromosom]] und dem [[Y-Chromosom]]. Es ist assoziiert mit [[Minderwuchs]] bei Menschen und wenn eine [[Mutation]] oder vorliegt oder das Gen in nur einer Kopie im Genom existiert (sog. [[Haploinsuffizienz]]).
==Pathology==
The gene was first found during a search for the cause of short stature in women with [[Turner syndrome]], in which there is loss of genetic material from the X chromosome, classically by loss of one entire X chromosome.<ref name="titleSHOX - short stature homeobox - Genetics Home Reference">{{cite web | url = http://ghr.nlm.nih.gov/gene=shox | title = SHOX - short stature homeobox - Genetics Home Reference | accessdate = 2008-02-18 | author = | authorlink = | coauthors = | date = 2005-09-01| format = | work = | publisher = U.S. National Library of Medicine | pages = | language = | archiveurl = | archivedate = | quote = }}</ref>


==Pathologie==
Since its discovery, the SHOX gene has been found to play a role in idiopathic short stature (short stature of unknown cause without other symptoms), [[Léri-Weill dyschondrosteosis]], and [[Langer mesomelic dysplasia]].
Dieses Gen wurde im Rahmen von Untersuchungen zur Genetik des [[Turner-Syndrom]]s entdeckt. Bei dieser Krankheit gibt es einen Verlust von genetischem Material des X-Chromosomes, typischerweise durch ein Fehlen des kompletten X-Chromosomes.<ref name="titleSHOX - short stature homeobox - Genetics Home Reference">{{cite web | url = http://ghr.nlm.nih.gov/gene=shox | title = SHOX - short stature homeobox - Genetics Home Reference | accessdate = 2008-02-18 | author = | authorlink = | coauthors = | date = 2005-09-01| format = | work = | publisher = U.S. National Library of Medicine | pages = | language = | archiveurl = | archivedate = | quote = }}</ref>


Nach seiner Entdeckung wurde festegestellt, das SHOX auch bei anderen Erkrankungen die mit einem Minderwuchs einhergehen eine Rolle spielt. Die sind vor allem die [[:en:Léri-Weill dyschondrosteosis]] und die [[:en:Langer mesomelic dysplasia]].
[[Gene dosage]] effects of extra copies of SHOX may be a cause of the increased stature seen in other sex chromosome [[aneuploidy]] conditions such as [[47,XXX]], [[47,XYY]], [[47,XXY]], [[XXYY syndrome|48,XXYY]], etc.<ref name="pmid14752208">{{cite journal | author = Kanaka-Gantenbein C, Kitsiou S, Mavrou A, Stamoyannou L, Kolialexi A, Kekou K, Liakopoulou M, Chrousos G | title = Tall stature, insulin resistance, and disturbed behavior in a girl with the triple X syndrome harboring three SHOX genes: offspring of a father with mosaic Klinefelter syndrome but with two maternal X chromosomes | journal = Horm. Res. | volume = 61 | issue = 5 | pages = 205–10 | year = 2004 | pmid = 14752208 | doi = 10.1159/000076532 | issn = }}</ref>


Gendosis-Effekte von zusätzlichen SHOX-Kopien spielen möglicherweise eine Rolle beim zustandekommen des Hochwuches bei anderen [[Aneuploidie]] der Geschlechtschromosomen wie beispielsweise [[ Triplo-X-Syndrom]], [[XYY-Syndrom]], [[Klinefelter-Syndrom]], [[:en:XXYY syndrome|48,XXYY]], etc.<ref name="pmid14752208">{{cite journal | author = Kanaka-Gantenbein C, Kitsiou S, Mavrou A, Stamoyannou L, Kolialexi A, Kekou K, Liakopoulou M, Chrousos G | title = Tall stature, insulin resistance, and disturbed behavior in a girl with the triple X syndrome harboring three SHOX genes: offspring of a father with mosaic Klinefelter syndrome but with two maternal X chromosomes | journal = Horm. Res. | volume = 61 | issue = 5 | pages = 205–10 | year = 2004 | pmid = 14752208 | doi = 10.1159/000076532 | issn = }}</ref>
==Function==
The SHOX gene is a [[homeobox gene]], meaning that it helps regulate development. The SHOX gene is composed of 6 different [[exon]]s and is located in the [[pseudoautosomal region]] (PAR1) of the X chromosome and Y chromosome. Experiments have found similar genes in a variety of animals and insects.


== References ==
==Funktion==
Das SHOX Gen ist ein [[Homöobox]]-Gen. Dies sind Gene, die bei der [[Embryonalentwicklung]] bedeutsam sind. Das SHOX-Gen besteht 6 verschiedenen [[Exon]]s und ist in der [[Pseudoautosomale Region]] (PAR1) des X- und Y-Chromosomes lokalisiert. Experiments have found similar genes in a variety of animals and insects.
{{Reflist}}

== Referencen ==
<references/>


==Further reading==
==Further reading==
* Bernasconi S, Mariani S, Falcinelli C, et al.: ''SHOX gene in Leri-Weill syndrome and in idiopathic short stature.'' in: J. Endocrinol. Invest. vol. 24,9 pg. 737–41 (2002) PMID 11716161
{{refbegin | 2}}
* Leka SK, Kitsiou-Tzeli S, Kalpini-Mavrou A, Kanavakis E: ''Short stature and dysmorphology associated with defects in the SHOX gene.'' in: Hormones (Athens, Greece) vol. 5,2 pg. 107–18 (2006) PMID 16807223
{{PBB_Further_reading
* Ballabio A, Bardoni B, Carrozzo R, et al.: ''Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome.'' in: Proc. Natl. Acad. Sci. U.S.A. vol. 86,24 pg. 10001–5 (1990) PMID 2602357
| citations =
* Zuffardi O, Maraschio P, Lo Curto F, et al.: ''The role of Yp in sex determination: new evidence from X/Y translocations.'' in: Am. J. Med. Genet. vol. 12,2 pg. 175–84 (1982) PMID 6954848
*{{cite journal | author=Bernasconi S, Mariani S, Falcinelli C, ''et al.'' |title=SHOX gene in Leri-Weill syndrome and in idiopathic short stature. |journal=J. Endocrinol. Invest. |volume=24 |issue= 9 |pages= 737–41 |year= 2002 |pmid= 11716161 |doi= }}
* Kuznetzova T, Baranov A, Ivaschenko T, et al.: ''X;Y translocation in a girl with short stature and some features of Turner's syndrome: cytogenetic and molecular studies.'' in: J. Med. Genet. vol. 31,8 pg. 649–51 (1995) PMID 7815426
*{{cite journal | author=Leka SK, Kitsiou-Tzeli S, Kalpini-Mavrou A, Kanavakis E |title=Short stature and dysmorphology associated with defects in the SHOX gene. |journal=Hormones (Athens, Greece) |volume=5 |issue= 2 |pages= 107–18 |year= 2006 |pmid= 16807223 |doi= }}
* Ogata T, Yoshizawa A, Muroya K, et al.: ''Short stature in a girl with partial monosomy of the pseudoautosomal region distal to DXYS15: further evidence for the assignment of the critical region for a pseudoautosomal growth gene(s).'' in: J. Med. Genet. vol. 32,10 pg. 831–4 (1996) PMID 8558568
*{{cite journal | author=Ballabio A, Bardoni B, Carrozzo R, ''et al.'' |title=Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=86 |issue= 24 |pages= 10001–5 |year= 1990 |pmid= 2602357 |doi= }}
* Rao E, Weiss B, Fukami M, et al.: ''Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome.'' in: Nat. Genet. vol. 16,1 pg. 54–63 (1997) PMID 9140395
*{{cite journal | author=Zuffardi O, Maraschio P, Lo Curto F, ''et al.'' |title=The role of Yp in sex determination: new evidence from X/Y translocations. |journal=Am. J. Med. Genet. |volume=12 |issue= 2 |pages= 175–84 |year= 1982 |pmid= 6954848 |doi= 10.1002/ajmg.1320120207 }}
*{{cite journal | author=Kuznetzova T, Baranov A, Ivaschenko T, ''et al.'' |title=X;Y translocation in a girl with short stature and some features of Turner's syndrome: cytogenetic and molecular studies. |journal=J. Med. Genet. |volume=31 |issue= 8 |pages= 649–51 |year= 1995 |pmid= 7815426 |doi= }}
*{{cite journal | author=Ogata T, Yoshizawa A, Muroya K, ''et al.'' |title=Short stature in a girl with partial monosomy of the pseudoautosomal region distal to DXYS15: further evidence for the assignment of the critical region for a pseudoautosomal growth gene(s). |journal=J. Med. Genet. |volume=32 |issue= 10 |pages= 831–4 |year= 1996 |pmid= 8558568 |doi= }}
*{{cite journal | author=Rao E, Weiss B, Fukami M, ''et al.'' |title=Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome. |journal=Nat. Genet. |volume=16 |issue= 1 |pages= 54–63 |year= 1997 |pmid= 9140395 |doi= 10.1038/ng0597-54 }}
*{{cite journal | author=Rao E, Weiss B, Fukami M, ''et al.'' |title=FISH-deletion mapping defines a 270-kb short stature critical interval in the pseudoautosomal region PAR1 on human sex chromosomes. |journal=Hum. Genet. |volume=100 |issue= 2 |pages= 236–9 |year= 1997 |pmid= 9254856 |doi= }}
*{{cite journal | author=Rao E, Weiss B, Fukami M, ''et al.'' |title=FISH-deletion mapping defines a 270-kb short stature critical interval in the pseudoautosomal region PAR1 on human sex chromosomes. |journal=Hum. Genet. |volume=100 |issue= 2 |pages= 236–9 |year= 1997 |pmid= 9254856 |doi= }}
*{{cite journal | author=Ellison JW, Wardak Z, Young MF, ''et al.'' |title=PHOG, a candidate gene for involvement in the short stature of Turner syndrome. |journal=Hum. Mol. Genet. |volume=6 |issue= 8 |pages= 1341–7 |year= 1997 |pmid= 9259282 |doi= }}
*{{cite journal | author=Ellison JW, Wardak Z, Young MF, ''et al.'' |title=PHOG, a candidate gene for involvement in the short stature of Turner syndrome. |journal=Hum. Mol. Genet. |volume=6 |issue= 8 |pages= 1341–7 |year= 1997 |pmid= 9259282 |doi= }}
Zeile 38: Zeile 88:
*{{cite journal | author=Cormier-Daire V, Huber C, Munnich A |title=Allelic and nonallelic heterogeneity in dyschondrosteosis (Leri-Weill syndrome). |journal=Am. J. Med. Genet. |volume=106 |issue= 4 |pages= 272–4 |year= 2002 |pmid= 11891678 |doi= }}
*{{cite journal | author=Cormier-Daire V, Huber C, Munnich A |title=Allelic and nonallelic heterogeneity in dyschondrosteosis (Leri-Weill syndrome). |journal=Am. J. Med. Genet. |volume=106 |issue= 4 |pages= 272–4 |year= 2002 |pmid= 11891678 |doi= }}
*{{cite journal | author=May CA, Shone AC, Kalaydjieva L, ''et al.'' |title=Crossover clustering and rapid decay of linkage disequilibrium in the Xp/Yp pseudoautosomal gene SHOX. |journal=Nat. Genet. |volume=31 |issue= 3 |pages= 272–5 |year= 2002 |pmid= 12089524 |doi= 10.1038/ng918 }}
*{{cite journal | author=May CA, Shone AC, Kalaydjieva L, ''et al.'' |title=Crossover clustering and rapid decay of linkage disequilibrium in the Xp/Yp pseudoautosomal gene SHOX. |journal=Nat. Genet. |volume=31 |issue= 3 |pages= 272–5 |year= 2002 |pmid= 12089524 |doi= 10.1038/ng918 }}
}}
{{refend}}


[[en:Short stature homeobox gene]]
==External links==
[[Kategorie:Gen]]
* {{MeshName|short+stature+homeobox+protein,+human}}

[[Category:Genes]]

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Version vom 17. September 2008, 23:02 Uhr

Short stature homeobox
Bezeichner
Gen-Name(n) SHOX
Externe IDs
Orthologe ()
Entrez [1]
UniProt [2]


PubMed-Suche [3]

Es sind Angaben zu Spezies2 vorhanden, Spezies2= ist jedoch nicht definiert.

Short stature homeobox gene or SHOX ist ein Gen auf dem X-Chromosom und dem Y-Chromosom. Es ist assoziiert mit Minderwuchs bei Menschen und wenn eine Mutation oder vorliegt oder das Gen in nur einer Kopie im Genom existiert (sog. Haploinsuffizienz).

Pathologie

Dieses Gen wurde im Rahmen von Untersuchungen zur Genetik des Turner-Syndroms entdeckt. Bei dieser Krankheit gibt es einen Verlust von genetischem Material des X-Chromosomes, typischerweise durch ein Fehlen des kompletten X-Chromosomes.[1]

Nach seiner Entdeckung wurde festegestellt, das SHOX auch bei anderen Erkrankungen die mit einem Minderwuchs einhergehen eine Rolle spielt. Die sind vor allem die en:Léri-Weill dyschondrosteosis und die en:Langer mesomelic dysplasia.

Gendosis-Effekte von zusätzlichen SHOX-Kopien spielen möglicherweise eine Rolle beim zustandekommen des Hochwuches bei anderen Aneuploidie der Geschlechtschromosomen wie beispielsweise Triplo-X-Syndrom, XYY-Syndrom, Klinefelter-Syndrom, 48,XXYY, etc.[2]

Funktion

Das SHOX Gen ist ein Homöobox-Gen. Dies sind Gene, die bei der Embryonalentwicklung bedeutsam sind. Das SHOX-Gen besteht 6 verschiedenen Exons und ist in der Pseudoautosomale Region (PAR1) des X- und Y-Chromosomes lokalisiert. Experiments have found similar genes in a variety of animals and insects.

Referencen

  1. ↑ SHOX - short stature homeobox - Genetics Home Reference. U.S. National Library of Medicine, 1. September 2005, abgerufen am 18. Februar 2008.
  2. ↑ Kanaka-Gantenbein C, Kitsiou S, Mavrou A, Stamoyannou L, Kolialexi A, Kekou K, Liakopoulou M, Chrousos G: Tall stature, insulin resistance, and disturbed behavior in a girl with the triple X syndrome harboring three SHOX genes: offspring of a father with mosaic Klinefelter syndrome but with two maternal X chromosomes. In: Horm. Res. 61. Jahrgang, Nr. 5, 2004, S. 205–10, doi:10.1159/000076532, PMID 14752208.

Further reading

  • Bernasconi S, Mariani S, Falcinelli C, et al.: SHOX gene in Leri-Weill syndrome and in idiopathic short stature. in: J. Endocrinol. Invest. vol. 24,9 pg. 737–41 (2002) PMID 11716161
  • Leka SK, Kitsiou-Tzeli S, Kalpini-Mavrou A, Kanavakis E: Short stature and dysmorphology associated with defects in the SHOX gene. in: Hormones (Athens, Greece) vol. 5,2 pg. 107–18 (2006) PMID 16807223
  • Ballabio A, Bardoni B, Carrozzo R, et al.: Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome. in: Proc. Natl. Acad. Sci. U.S.A. vol. 86,24 pg. 10001–5 (1990) PMID 2602357
  • Zuffardi O, Maraschio P, Lo Curto F, et al.: The role of Yp in sex determination: new evidence from X/Y translocations. in: Am. J. Med. Genet. vol. 12,2 pg. 175–84 (1982) PMID 6954848
  • Kuznetzova T, Baranov A, Ivaschenko T, et al.: X;Y translocation in a girl with short stature and some features of Turner's syndrome: cytogenetic and molecular studies. in: J. Med. Genet. vol. 31,8 pg. 649–51 (1995) PMID 7815426
  • Ogata T, Yoshizawa A, Muroya K, et al.: Short stature in a girl with partial monosomy of the pseudoautosomal region distal to DXYS15: further evidence for the assignment of the critical region for a pseudoautosomal growth gene(s). in: J. Med. Genet. vol. 32,10 pg. 831–4 (1996) PMID 8558568
  • Rao E, Weiss B, Fukami M, et al.: Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome. in: Nat. Genet. vol. 16,1 pg. 54–63 (1997) PMID 9140395
  • Rao E, Weiss B, Fukami M, et al.: FISH-deletion mapping defines a 270-kb short stature critical interval in the pseudoautosomal region PAR1 on human sex chromosomes. In: Hum. Genet. 100. Jahrgang, Nr. 2, 1997, S. 236–9, PMID 9254856.
  • Ellison JW, Wardak Z, Young MF, et al.: PHOG, a candidate gene for involvement in the short stature of Turner syndrome. In: Hum. Mol. Genet. 6. Jahrgang, Nr. 8, 1997, S. 1341–7, PMID 9259282.
  • Belin V, Cusin V, Viot G, et al.: SHOX mutations in dyschondrosteosis (Leri-Weill syndrome). In: Nat. Genet. 19. Jahrgang, Nr. 1, 1998, S. 67–9, doi:10.1038/ng0198-67, PMID 9590292.
  • Shears DJ, Vassal HJ, Goodman FR, et al.: Mutation and deletion of the pseudoautosomal gene SHOX cause Leri-Weill dyschondrosteosis. In: Nat. Genet. 19. Jahrgang, Nr. 1, 1998, S. 70–3, doi:10.1038/ng0198-70, PMID 9590293.
  • Grigelioniene G, Eklöf O, Ivarsson SA, et al.: Mutations in short stature homeobox containing gene (SHOX) in dyschondrosteosis but not in hypochondroplasia. In: Hum. Genet. 107. Jahrgang, Nr. 2, 2000, S. 145–9, PMID 11030412.
  • Huber C, Cusin V, Le Merrer M, et al.: SHOX point mutations in dyschondrosteosis. In: J. Med. Genet. 38. Jahrgang, Nr. 5, 2001, S. 323, PMID 11403039.
  • Rao E, Blaschke RJ, Marchini A, et al.: The Leri-Weill and Turner syndrome homeobox gene SHOX encodes a cell-type specific transcriptional activator. In: Hum. Mol. Genet. 10. Jahrgang, Nr. 26, 2002, S. 3083–91, PMID 11751690.
  • Ezquieta B, Cueva E, Oliver A, Gracia R: SHOX intragenic microsatellite analysis in patients with short stature. In: J. Pediatr. Endocrinol. Metab. 15. Jahrgang, Nr. 2, 2002, S. 139–48, PMID 11874178.
  • Ogata T, Muroya K, Sasaki G, et al.: SHOX nullizygosity and haploinsufficiency in a Japanese family: implication for the development of Turner skeletal features. In: J. Clin. Endocrinol. Metab. 87. Jahrgang, Nr. 3, 2002, S. 1390–4, PMID 11889214.
  • Rappold GA, Fukami M, Niesler B, et al.: Deletions of the homeobox gene SHOX (short stature homeobox) are an important cause of growth failure in children with short stature. In: J. Clin. Endocrinol. Metab. 87. Jahrgang, Nr. 3, 2002, S. 1402–6, PMID 11889216.
  • Cormier-Daire V, Huber C, Munnich A: Allelic and nonallelic heterogeneity in dyschondrosteosis (Leri-Weill syndrome). In: Am. J. Med. Genet. 106. Jahrgang, Nr. 4, 2002, S. 272–4, PMID 11891678.
  • May CA, Shone AC, Kalaydjieva L, et al.: Crossover clustering and rapid decay of linkage disequilibrium in the Xp/Yp pseudoautosomal gene SHOX. In: Nat. Genet. 31. Jahrgang, Nr. 3, 2002, S. 272–5, doi:10.1038/ng918, PMID 12089524.
Abgerufen von „https://de.wikipedia.org/w/index.php?title=SHOX&oldid=50864341“