Sonic hedgehog

SHH
	Proteinak kodetzen dituen genea
Identifikadoreak
	Homologene: 30961 Genenames: SHH Ensemble: ENSG00000164690
Taxoia	Homo sapiens
Asoziazio-genetikoa	holoprosencephaly 3 (en) ; Laurin-Sandrow syndrome (en)
Kokapena
Kromosoma	human chromosome 7 (en)
Kokapen zitogenetikoa	7q36.3
Hasiera	155592680 bp
Amaiera	155604967 bp
Transkripzioak
RNA ID	NM_000193, NM_001310462, NR_132318, NR_132319, XM_011516479, XM_011516480 eta XM_047420718
Ensembl	Zerrenda ENST00000472308; ENST00000297261; ENST00000430104; ENST00000435425; ENST00000441114;
Beste espezieetan
Sagu arrunt	Shh (en)
Arratoi arrunt	Shh (en)
Danio rerio	shha (en)
Danio rerio	shhb (en)
ozpin-euli	hh (en)
Gene-adierazpen eredua
Ontologia
Kodetzen du	Sonic hedgehog signaling molecule (en)
Funtzio-molekularrak	Ikusi kaltzio ioi lotura; metal ion binding (en) ; patched binding (en) ; peptidase activity (en) ; zinc ion binding (en) ; laminin-1 binding (en) ; glycosaminoglycan binding (en) ; morphogen activity (en) ; hydrolase activity (en) ; proteina lotura; endopeptidase activity (en) ;
Osagai-zelularra	Ikusi zitosol; endoplasmic reticulum lumen (en) ; mintza; cell surface (en) ; lipido baltsa; zelula mintz; extracellular space (en) ; zelulaz kanpoko eremu; Zelula kanpoko matrize;
Prozesu-biologikoak	Ikusi positive regulation of skeletal muscle cell proliferation (en) ; pattern specification process (en) ; myotube differentiation (en) ; mesenchymal cell proliferation (en) ; male genitalia development (en) ; bud outgrowth involved in lung branching (en) ; limb bud formation (en) ; T cell differentiation in thymus (en) ; embryonic pattern specification (en) ; positive regulation of skeletal muscle tissue development (en) ; positive regulation of immature T cell proliferation in thymus (en) ; positive regulation of kidney smooth muscle cell differentiation (en) ; negative regulation of Wnt signaling pathway (en) ; anatomical structure formation involved in morphogenesis (en) ; ectoderm development (en) ; hindgut morphogenesis (en) ; spinal cord dorsal/ventral patterning (en) ; formation of anatomical boundary (en) ; oligodendrocyte differentiation (en) ; trachea development (en) ; prostate gland development (en) ; negative regulation of transcription elongation from RNA polymerase II promoter (en) ; limb development (en) ; vasculogenesis (en) ; primary prostatic bud elongation (en) ; bihotz-lakio; telencephalon regionalization (en) ; odontogenesis of dentin-containing tooth (en) ; positive regulation of mesenchymal cell proliferation (en) ; angiogenesis (en) ; positive regulation of epithelial cell proliferation involved in prostate gland development (en) ; positive regulation of striated muscle cell differentiation (en) ; negative regulation of proteasomal ubiquitin-dependent protein catabolic process (en) ; embryonic digestive tract morphogenesis (en) ; apoptotic signaling pathway (en) ; inner ear development (en) ; hair follicle morphogenesis (en) ; cell population proliferation (en) ; metanephros development (en) ; lung epithelium development (en) ; negative regulation of canonical Wnt signaling pathway (en) ; regulation of proteolysis (en) ; branching involved in salivary gland morphogenesis (en) ; negative regulation of mesenchymal cell apoptotic process (en) ; positive regulation of neuroblast proliferation (en) ; dopaminergic neuron differentiation (en) ; intermediate filament organization (en) ; renal system development (en) ; cell fate commitment (en) ; regulation of transcription, DNA-templated (en) ; positive regulation of smoothened signaling pathway (en) ; androgen metabolic process (en) ; kidney development (en) ; lung development (en) ; negative regulation of protein catabolic process (en) ; thymus development (en) ; embryonic organ development (en) ; negative regulation of cell differentiation (en) ; negative regulation of dopaminergic neuron differentiation (en) ; embryonic digit morphogenesis (en) ; negative regulation of alpha-beta T cell differentiation (en) ; positive regulation of sclerotome development (en) ; epithelial-mesenchymal cell signaling (en) ; negative regulation of gene expression (en) ; lymphoid progenitor cell differentiation (en) ; negative thymic T cell selection (en) ; positive regulation of transcription, DNA-templated (en) ; positive regulation of Wnt signaling pathway (en) ; ventral midline development (en) ; central nervous system development (en) ; heart development (en) ; branching involved in ureteric bud morphogenesis (en) ; negative regulation of T cell proliferation (en) ; embryonic limb morphogenesis (en) ; positive regulation of cell differentiation (en) ; branching involved in prostate gland morphogenesis (en) ; positive regulation of mesenchymal cell proliferation involved in ureter development (en) ; establishment of cell polarity (en) ; branching involved in blood vessel morphogenesis (en) ; positive regulation of cerebellar granule cell precursor proliferation (en) ; neuroblast proliferation (en) ; pancreas development (en) ; positive regulation of protein import into nucleus (en) ; smoothened signaling pathway (en) ; oligodendrocyte development (en) ; camera-type eye development (en) ; spinal cord motor neuron differentiation (en) ; positive regulation of alpha-beta T cell differentiation (en) ; digestive tract morphogenesis (en) ; hair follicle development (en) ; positive regulation of oligodendrocyte differentiation (en) ; roof of mouth development (en) ; left lung development (en) ; striated muscle tissue development (en) ; positive regulation of T cell differentiation in thymus (en) ; cellular response to lithium ion (en) ; embryonic foregut morphogenesis (en) ; anatomical structure development (en) ; thalamus development (en) ; stem cell development (en) ; smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (en) ; cell fate specification (en) ; negative regulation of apoptotic process (en) ; negative regulation of transcription by RNA polymerase II (en) ; regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (en) ; proteolisi; embryonic skeletal system development (en) ; regulation of protein localization to nucleus (en) ; odontogenesis (en) ; respiratory tube development (en) ; regulation of prostatic bud formation (en) ; thyroid gland development (en) ; negative regulation of cell migration (en) ; developmental growth (en) ; right lung development (en) ; determination of left/right asymmetry in lateral mesoderm (en) ; positive thymic T cell selection (en) ; mesenchymal smoothened signaling pathway involved in prostate gland development (en) ; canonical Wnt signaling pathway (en) ; gene-erregulazio; osteoblast development (en) ; negative regulation of cholesterol efflux (en) ; dorsal/ventral neural tube patterning (en) ; regulation of epithelial cell proliferation involved in prostate gland development (en) ; epithelial-mesenchymal signaling involved in prostate gland development (en) ; dorsal/ventral pattern formation (en) ; branching morphogenesis of an epithelial tube (en) ; lung lobe morphogenesis (en) ; embryonic forelimb morphogenesis (en) ; midbrain development (en) ; skin development (en) ; regulation of odontogenesis (en) ; regulation of mesenchymal cell proliferation involved in prostate gland development (en) ; mesenchymal cell proliferation involved in lung development (en) ; positive regulation of hh target transcription factor activity (en) ; prostate epithelial cord elongation (en) ; metanephric mesenchymal cell proliferation involved in metanephros development (en) ; Endozitosi; lung morphogenesis (en) ; cell development (en) ; trachea morphogenesis (en) ; epithelial cell proliferation involved in salivary gland morphogenesis (en) ; cell-cell signaling (en) ; salivary gland cavitation (en) ; hindbrain development (en) ; Gatzapen; negative regulation of kidney smooth muscle cell differentiation (en) ; somite development (en) ; cerebellar granule cell precursor proliferation (en) ; axon guidance (en) ; negative regulation of ureter smooth muscle cell differentiation (en) ; positive regulation of ureter smooth muscle cell differentiation (en) ; izaki zelulanitzen garapena; animal organ formation (en) ; intein-mediated protein splicing (en) ; determination of left/right symmetry (en) ; vasculature development (en) ; positive regulation of gene expression (en) ; regulation of cell population proliferation (en) ; embryonic morphogenesis (en) ; neural crest cell migration (en) ; polarity specification of anterior/posterior axis (en) ; positive regulation of cell population proliferation (en) ; artery development (en) ; protein localization to nucleus (en) ; Bergmann glial cell differentiation (en) ; forebrain development (en) ; neuron fate commitment (en) ; CD4-positive or CD8-positive, alpha-beta T cell lineage commitment (en) ; striated muscle cell differentiation (en) ; myoblast differentiation (en) ; lung-associated mesenchyme development (en) ; epithelial tube branching involved in lung morphogenesis (en) ; positive regulation of cell division (en) ; RNA polimerasa II-tik transkripzioaren erregulazio positiboaren bultzatzaile; anterior/posterior pattern specification (en) ; embryonic hindlimb morphogenesis (en) ; forebrain regionalization (en) ; cell proliferation in external granule layer (en) ; tracheoesophageal septum formation (en) ; regulation of signaling receptor activity (en) ;

Ez nahastu Sonic the Hedgehogekin

Sonic hedgehog (euskaraz: «Sonic trikua») proteina bat da, SHH geneak kodetua^[3]. Seinaleztatze molekula hau giltza da animalia mota guztien enbrioien morfogenesia erregulatzen. Organogenesia eta nerbio sistema zentralaren, gorputz adarren, behatzen eta gorputzeko beste atal askoren antolaketa kontrolatzen du. Enbrioiaren garapena ezartzeko Frantziako banderaren eredua jarraitzen duen kontzentrazio gradientea da bere ezaugarrietako bat^[4]. Eredu honen arabera SHH molekulen banaketa ez da uniformea, eta zelulen gantzak kontzentrazioaren arabera diferentziatzen ditu.

Gene honetan sortzen diren mutazioek holoprosenzefalia sor dezakete, burmuineko hemisferioen bereizketa ekiditen duena. Gertakari hau esperimentalki ikusi da SSH genea eraldatutako saguetan, garuna bitan zatitzen zuen lerroa sortu beharrean fusionatutako besikula telenzefaliko bakarra sortuz^[5]^[6].

Helduen ehunen diferentziazio, ugaritze eta mantenuan Sonic hedgehogek paper garrantzitsua izaten jarraitzen du. SHH seinaleen aktibatze anomaloak helduengan hainbat minbizi sor ditzake, tartean bularreko minbizia, azalekoa, garunekoa, gibelekoa, puxikakoa eta beste hainbat^[7].

Aurkikuntza eta izena[aldatu | aldatu iturburu kodea]

Hedgehog genea (hh) lehenengoz Drosophila melanogaster eulian aurkitu zen, Christiane Nüsslein-Volhardek eta Eric Wieschausek 1980an argitaratutako lan klasikoan^[8]. Aurkikuntza honen ondorioz 1995an Nobel saria eskuratu zuten, Edward B. Lewis genetistarekin batera, Drosophilaren enbrioien segmentazioa aurkitzeagatik. hh genearen funtzioaren galerak enbrioietan dentikuluak sortzen zituen, triku baten antza duten arantza modukoak. Philip Inghamek, Andrew P. McMahonek eta Clifford Tabinek gen homologoak aurkitu zituzten, ondoren, ornodunetan^[9]^[10]^[11]^[12].

Hauetatik bi genek trikuen bi espezieren izena daramate, desert hedgehog eta indian hedhegog, baina Sonic hedgehogek Sonic the Hedgehog bideojokoko protagonistaren izena darama^[13]^[14]. Robert Riddle ikerlari postdoktoralak eman zion izena, bere emazte Betsy Wilderrek bideojoko aldizkari bat ekarri ziolako Sonicen iragarki batekin^[15]^[16]^[17]. Danio rerio arrainean hh geneak bikoiztuta daude: SHH a^[18] eta SHH b^[19], alde batetik (lehenengoari, lehen, tiggywinkle hedgehog izena ematen zitzaion, Mrs. Tiggy-Winkleren omenez, Beatrix Potterrren haur literaturako pertsonaia) eta ihha eta ihhb^[20] (echinda hedgehog bezala ezagutzen zena, ekidna animaliaren ondorioz, baina ez Knuckles the Echidna pertsonaiaren ondorioz).

Erreferentziak[aldatu | aldatu iturburu kodea]

↑ GRCh38: Ensembl release 89: ENSG00000164690. Ensembl.
↑ GRCh38: Ensembl release 89: ENSG00000164690. Ensembl.
↑ (Ingelesez) Marigo, Valeria; Roberts, Drucilla J.; Lee, Scott M. K.; Tsukurov, Olga; Levi, Tatjana; Gastier, Julie M.; Epstein, Douglas J.; Gilbert, Debra J. et al.. (1995-07-01). «Cloning, Expression, and Chromosomal Location of SHH and IHH: Two Human Homologues of the Drosophila Segment Polarity Gene Hedgehog» Genomics 28 (1): 44–51. doi:10.1006/geno.1995.1104. ISSN 0888-7543. (Noiz kontsultatua: 2021-04-21).
↑ (Ingelesez) Jaeger, Johannes; Martinez-Arias, Alfonso. (2009-03-31). «Getting the Measure of Positional Information» PLOS Biology 7 (3): e1000081. doi:10.1371/journal.pbio.1000081. ISSN 1545-7885. PMID 19338391. PMC PMC2661971. (Noiz kontsultatua: 2021-04-21).
↑ Nanni, Luisa; Ming, Jeffrey E.; Bocian, Maureen; Steinhaus, Kathryn; Bianchi, Diana W.; de Die-Smulders, Christine; Giannotti, Aldo; Imaizumi, Kiyoshi et al.. (1999-12-01). «The Mutational Spectrum of the Sonic Hedgehog Gene in Holoprosencephaly: SHH Mutations Cause a Significant Proportion of Autosomal Dominant Holoprosencephaly» Human Molecular Genetics 8 (13): 2479–2488. doi:10.1093/hmg/8.13.2479. ISSN 0964-6906. (Noiz kontsultatua: 2021-04-21).
↑ (Ingelesez) Blaess, Sandra; Szabó, Nora; Haddad-Tóvolli, Roberta; Zhou, Xunlei; Álvarez-Bolado, Gonzalo. (2015). «Sonic hedgehog signaling in the development of the mouse hypothalamus» Frontiers in Neuroanatomy 8 doi:10.3389/fnana.2014.00156. ISSN 1662-5129. PMID 25610374. PMC PMC4285088. (Noiz kontsultatua: 2021-04-21).
↑ (Ingelesez) Jeng, Kuo-Shyang; Chang, Chiung-Fang; Lin, Shu-Sheng. (2020/1). «Sonic Hedgehog Signaling in Organogenesis, Tumors, and Tumor Microenvironments» International Journal of Molecular Sciences 21 (3): 758. doi:10.3390/ijms21030758. PMID 31979397. PMC PMC7037908. (Noiz kontsultatua: 2021-04-21).
↑ (Ingelesez) Nüsslein-Volhard, Christiane; Wieschaus, Eric. (1980-10-XX). «Mutations affecting segment number and polarity in Drosophila» Nature 287 (5785): 795–801. doi:10.1038/287795a0. ISSN 1476-4687. (Noiz kontsultatua: 2021-04-21).
↑ Krauss, S.; Concordet, J.-P.; Ingham, P.W.. (1993-12-XX). «A functionally conserved homolog of the Drosophila segment polarity gene hh is expressed in tissues with polarizing activity in zebrafish embryos» Cell 75 (7): 1431–1444. doi:10.1016/0092-8674(93)90628-4. ISSN 0092-8674. (Noiz kontsultatua: 2021-04-21).
↑ Echelard, Yann; Epstein, Douglas J.; St-Jacques, Benoit; Shen, Liya; Mohler, Jym; McMahon, Jill A.; McMahon, Andrew P.. (1993-12-XX). «Sonic hedgehog, a member of a family of putative signaling molecules, is implicated in the regulation of CNS polarity» Cell 75 (7): 1417–1430. doi:10.1016/0092-8674(93)90627-3. ISSN 0092-8674. (Noiz kontsultatua: 2021-04-21).
↑ Riddle, Robert D.; Johnson, Randy L.; Laufer, Ed; Tabin, Cliff. (1993-12-XX). «Sonic hedgehog mediates the polarizing activity of the ZPA» Cell 75 (7): 1401–1416. doi:10.1016/0092-8674(93)90626-2. ISSN 0092-8674. (Noiz kontsultatua: 2021-04-21).
↑ (Ingelesez) Angier, Natalie. (1994-01-11). «Biologists Find Key Genes That Shape Patterning of Embryos» The New York Times ISSN 0362-4331. (Noiz kontsultatua: 2021-04-21).
↑ Anwood, Robert. (2007). Emus can't walk backwards : another round of dubious pub facts. Ebury ISBN 978-0-09-192151-4. PMC 137312843. (Noiz kontsultatua: 2021-04-21).
↑ (Ingelesez) Simonite, Tom. (2005-12-01). «Pokémon blocks gene name» Nature 438 (7070): 897–897. doi:10.1038/438897a. ISSN 1476-4687. (Noiz kontsultatua: 2021-04-21).
↑ (Ingelesez) «A Gene Named Sonic» The New York Times 1994-01-11 ISSN 0362-4331. (Noiz kontsultatua: 2021-04-21).
↑ «Cliff Tabin: Super Sonic» web.archive.org 2005-11-10 (Noiz kontsultatua: 2021-04-21).
↑ (Ingelesez) «Ingenious - The Cyclops Gene - BBC Sounds» www.bbc.co.uk (Noiz kontsultatua: 2021-04-21).
↑ «ZFIN: Gene: shha» web.archive.org 2009-06-25 (Noiz kontsultatua: 2021-04-21).
↑ «ZFIN: Gene: shhb» web.archive.org 2009-06-26 (Noiz kontsultatua: 2021-04-21).
↑ (Ingelesez) Currie, Peter D.; Ingham, Phillip W.. (1996-08-XX). «Induction of a specific muscle cell type by a hedgehog-like protein in zebrafish» Nature 382 (6590): 452–455. doi:10.1038/382452a0. ISSN 1476-4687. (Noiz kontsultatua: 2021-04-21).

Kanpo-estekak[aldatu | aldatu iturburu kodea]

Datuak: Q14860072
Multimedia: Sonic hedgehog / Q14860072

[1] GRCh38: Ensembl release 89: ENSG00000164690. Ensembl.

[2] GRCh38: Ensembl release 89: ENSG00000164690. Ensembl.

[3] (Ingelesez) Marigo, Valeria; Roberts, Drucilla J.; Lee, Scott M. K.; Tsukurov, Olga; Levi, Tatjana; Gastier, Julie M.; Epstein, Douglas J.; Gilbert, Debra J. et al.. (1995-07-01). «Cloning, Expression, and Chromosomal Location of SHH and IHH: Two Human Homologues of the Drosophila Segment Polarity Gene Hedgehog» Genomics 28 (1): 44–51. doi:10.1006/geno.1995.1104. ISSN 0888-7543. (Noiz kontsultatua: 2021-04-21).

[4] (Ingelesez) Jaeger, Johannes; Martinez-Arias, Alfonso. (2009-03-31). «Getting the Measure of Positional Information» PLOS Biology 7 (3): e1000081. doi:10.1371/journal.pbio.1000081. ISSN 1545-7885. PMID 19338391. PMC PMC2661971. (Noiz kontsultatua: 2021-04-21).

[5] Nanni, Luisa; Ming, Jeffrey E.; Bocian, Maureen; Steinhaus, Kathryn; Bianchi, Diana W.; de Die-Smulders, Christine; Giannotti, Aldo; Imaizumi, Kiyoshi et al.. (1999-12-01). «The Mutational Spectrum of the Sonic Hedgehog Gene in Holoprosencephaly: SHH Mutations Cause a Significant Proportion of Autosomal Dominant Holoprosencephaly» Human Molecular Genetics 8 (13): 2479–2488. doi:10.1093/hmg/8.13.2479. ISSN 0964-6906. (Noiz kontsultatua: 2021-04-21).

[6] (Ingelesez) Blaess, Sandra; Szabó, Nora; Haddad-Tóvolli, Roberta; Zhou, Xunlei; Álvarez-Bolado, Gonzalo. (2015). «Sonic hedgehog signaling in the development of the mouse hypothalamus» Frontiers in Neuroanatomy 8 doi:10.3389/fnana.2014.00156. ISSN 1662-5129. PMID 25610374. PMC PMC4285088. (Noiz kontsultatua: 2021-04-21).

[7] (Ingelesez) Jeng, Kuo-Shyang; Chang, Chiung-Fang; Lin, Shu-Sheng. (2020/1). «Sonic Hedgehog Signaling in Organogenesis, Tumors, and Tumor Microenvironments» International Journal of Molecular Sciences 21 (3): 758. doi:10.3390/ijms21030758. PMID 31979397. PMC PMC7037908. (Noiz kontsultatua: 2021-04-21).

[8] (Ingelesez) Nüsslein-Volhard, Christiane; Wieschaus, Eric. (1980-10-XX). «Mutations affecting segment number and polarity in Drosophila» Nature 287 (5785): 795–801. doi:10.1038/287795a0. ISSN 1476-4687. (Noiz kontsultatua: 2021-04-21).

[9] Krauss, S.; Concordet, J.-P.; Ingham, P.W.. (1993-12-XX). «A functionally conserved homolog of the Drosophila segment polarity gene hh is expressed in tissues with polarizing activity in zebrafish embryos» Cell 75 (7): 1431–1444. doi:10.1016/0092-8674(93)90628-4. ISSN 0092-8674. (Noiz kontsultatua: 2021-04-21).

[10] Echelard, Yann; Epstein, Douglas J.; St-Jacques, Benoit; Shen, Liya; Mohler, Jym; McMahon, Jill A.; McMahon, Andrew P.. (1993-12-XX). «Sonic hedgehog, a member of a family of putative signaling molecules, is implicated in the regulation of CNS polarity» Cell 75 (7): 1417–1430. doi:10.1016/0092-8674(93)90627-3. ISSN 0092-8674. (Noiz kontsultatua: 2021-04-21).

[11] Riddle, Robert D.; Johnson, Randy L.; Laufer, Ed; Tabin, Cliff. (1993-12-XX). «Sonic hedgehog mediates the polarizing activity of the ZPA» Cell 75 (7): 1401–1416. doi:10.1016/0092-8674(93)90626-2. ISSN 0092-8674. (Noiz kontsultatua: 2021-04-21).

[12] (Ingelesez) Angier, Natalie. (1994-01-11). «Biologists Find Key Genes That Shape Patterning of Embryos» The New York Times ISSN 0362-4331. (Noiz kontsultatua: 2021-04-21).

[13] Anwood, Robert. (2007). Emus can't walk backwards : another round of dubious pub facts. Ebury ISBN 978-0-09-192151-4. PMC 137312843. (Noiz kontsultatua: 2021-04-21).

[14] (Ingelesez) Simonite, Tom. (2005-12-01). «Pokémon blocks gene name» Nature 438 (7070): 897–897. doi:10.1038/438897a. ISSN 1476-4687. (Noiz kontsultatua: 2021-04-21).

[15] (Ingelesez) «A Gene Named Sonic» The New York Times 1994-01-11 ISSN 0362-4331. (Noiz kontsultatua: 2021-04-21).

[16] «Cliff Tabin: Super Sonic» web.archive.org 2005-11-10 (Noiz kontsultatua: 2021-04-21).

[17] (Ingelesez) «Ingenious - The Cyclops Gene - BBC Sounds» www.bbc.co.uk (Noiz kontsultatua: 2021-04-21).

[18] «ZFIN: Gene: shha» web.archive.org 2009-06-25 (Noiz kontsultatua: 2021-04-21).

[19] «ZFIN: Gene: shhb» web.archive.org 2009-06-26 (Noiz kontsultatua: 2021-04-21).

[20] (Ingelesez) Currie, Peter D.; Ingham, Phillip W.. (1996-08-XX). «Induction of a specific muscle cell type by a hedgehog-like protein in zebrafish» Nature 382 (6590): 452–455. doi:10.1038/382452a0. ISSN 1476-4687. (Noiz kontsultatua: 2021-04-21).

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