SALL4

SALL4
Identificadores
Nomes alternativos	SALL4
IDs externos	OMIM: 607343 HomoloGene: 10716 GeneCards: SALL4
Doenças Geneticamente Relacionadas
	IVIC Syndrome
Ontologia genética
Função molecular	• metal ion binding; • sequence-specific DNA binding; • GO:0001131, GO:0001151, GO:0001130, GO:0001204 DNA-binding transcription factor activity; • DNA binding; • nucleic acid binding; • GO:0001948, GO:0016582 ligação a proteínas plasmáticas; • transcription factor binding; • GO:0001200, GO:0001133, GO:0001201 DNA-binding transcription factor activity, RNA polymerase II-specific;
Componente celular	• citoplasma; • núcleo celular; • intracellular membrane-bounded organelle; • GO:0035328 heterocromatina; • cariolinfa; • GO:0009327 complexo macromolecular;
Processo biológico	• ventricular septum development; • neural tube closure; • transcription, DNA-templated; • GO:0072468 transdução de sinal; • embryonic limb morphogenesis; • somatic stem cell population maintenance; • histogênese; • heart development; • inner cell mass cell proliferation; • stem cell population maintenance; • GO:1901227 negative regulation of transcription by RNA polymerase II; • neural tube development; • in utero embryonic development; • GO:0009373 regulation of transcription, DNA-templated; • GO:0003257, GO:0010735, GO:1901228, GO:1900622, GO:1904488 positive regulation of transcription by RNA polymerase II; • transcription by RNA polymerase II; • neurogénese;
	Sources:Amigo / QuickGO
Ortólogos
	57167
	n/a
	ENSG00000101115
	n/a
	Q9UJQ4; Q6Y8G5
	n/a
	NM_020436; NM_001318031
	n/a
	NP_001304960; NP_065169
	n/a
	Wikidata
Ver/Editar Humano

A proteína 4 do tipo sal (SALL4) é um fator de transcrição codificado por um membro da família de genes do tipo Spalt (SALL), SALL4.^[3]^[4] Os genes SALL foram identificados com base em sua homologia de sequência com Spalt, um gene homeótico originalmente clonado em Drosophila melanogaster que é importante para a formação da estrutura do tronco terminal na embriogênese e no desenvolvimento do disco imaginal nos estágios larvais.^[5]^[6] Também é conhecido como um fator chave das células-tronco embrionárias (ESC).^[7]

Significado clínico

Os vários modelos de camundongo SALL4-null imitam mutações humanas no gene SALL4, que demonstraram causar problemas de desenvolvimento em pacientes com síndrome de Okihiro/Duano-Radial.^[8]^[9] Esses indivíduos freqüentemente apresentam histórico familiar de malformação das mãos e distúrbios do movimento ocular.^[10] A plataforma de triagem de medicamentos direcionada a genes de câncer é explorada em bibliotecas de moléculas sintéticas e compostos naturais para detectar possíveis candidatos a medicamentos contra o SALL4, um gene de câncer ligado ao carcinoma hepatocelular (CHC). Esses candidatos a medicamentos podem atender à necessidade médica não atendida de tratamentos mais eficazes do CHC.^[11]

Leitura adicional

Sweetman D, Münsterberg A (maio de 2006). «The vertebrate spalt genes in development and disease». Developmental Biology. 293 (2): 285–293. PMID 16545361. doi:10.1016/j.ydbio.2006.02.009
Kohlhase J, Heinrich M, Schubert L, Liebers M, Kispert A, Laccone F, Turnpenny P, Winter RM, Reardon W (novembro de 2002). «Okihiro syndrome is caused by SALL4 mutations». Human Molecular Genetics. 11 (23): 2979–2987. PMID 12393809. doi:10.1093/hmg/11.23.2979
Al-Baradie R, Yamada K, St Hilaire C, Chan WM, Andrews C, McIntosh N, Nakano M, Martonyi EJ, Raymond WR, Okumura S, Okihiro MM, Engle EC (novembro de 2002). «Duane radial ray syndrome (Okihiro syndrome) maps to 20q13 and results from mutations in SALL4, a new member of the SAL family». American Journal of Human Genetics. 71 (5): 1195–1199. PMC 385096. PMID 12395297. doi:10.1086/343821
Kohlhase J, Schubert L, Liebers M, Rauch A, Becker K, Mohammed SN, Newbury-Ecob R, Reardon W (julho de 2003). «Mutations at the SALL4 locus on chromosome 20 result in a range of clinically overlapping phenotypes, including Okihiro syndrome, Holt-Oram syndrome, acro-renal-ocular syndrome, and patients previously reported to represent thalidomide embryopathy». Journal of Medical Genetics. 40 (7): 473–478. PMC 1735528. PMID 12843316. doi:10.1136/jmg.40.7.473
Borozdin W, Wright MJ, Hennekam RC, Hannibal MC, Crow YJ, Neumann TE, Kohlhase J (agosto de 2004). «Novel mutations in the gene SALL4 provide further evidence for acro-renal-ocular and Okihiro syndromes being allelic entities, and extend the phenotypic spectrum». Journal of Medical Genetics. 41 (8): e102. PMC 1735876. PMID 15286162. doi:10.1136/jmg.2004.019505
Kohlhase J, Holmes LB (agosto de 2004). «Mutations in SALL4 in malformed father and daughter postulated previously due to reflect mutagenesis by thalidomide». Birth Defects Research. Part A, Clinical and Molecular Teratology. 70 (8): 550–551. PMID 15329836. doi:10.1002/bdra.20050
Borozdin W, Boehm D, Leipoldt M, Wilhelm C, Reardon W, Clayton-Smith J, Becker K, Mühlendyck H, Winter R, Giray O, Silan F, Kohlhase J (setembro de 2004). «SALL4 deletions are a common cause of Okihiro and acro-renal-ocular syndromes and confirm haploinsufficiency as the pathogenic mechanism». Journal of Medical Genetics. 41 (9): e113. PMC 1735888. PMID 15342710. doi:10.1136/jmg.2004.019901
Wabbels BK, Lorenz B, Kohlhase J (dezembro de 2004). «No evidence of SALL4-mutations in isolated sporadic duane retraction "syndrome" (DURS)». American Journal of Medical Genetics Part A. 131 (2): 216–218. PMID 15386473. doi:10.1002/ajmg.a.30321
Kohlhase J, Chitayat D, Kotzot D, Ceylaner S, Froster UG, Fuchs S, Montgomery T, Rösler B (setembro de 2005). «SALL4 mutations in Okihiro syndrome (Duane-radial ray syndrome), acro-renal-ocular syndrome, and related disorders». Human Mutation. 26 (3): 176–183. PMID 16086360. doi:10.1002/humu.20215
Miertus J, Borozdin W, Frecer V, Tonini G, Bertok S, Amoroso A, Miertus S, Kohlhase J (março de 2006). «A SALL4 zinc finger missense mutation predicted to result in increased DNA binding affinity is associated with cranial midline defects and mild features of Okihiro syndrome». Human Genetics. 119 (1–2): 154–161. PMID 16402211. doi:10.1007/s00439-005-0124-7
Terhal P, Rösler B, Kohlhase J (fevereiro de 2006). «A family with features overlapping Okihiro syndrome, hemifacial microsomia and isolated Duane anomaly caused by a novel SALL4 mutation». American Journal of Medical Genetics Part A. 140 (3): 222–226. PMID 16411190. doi:10.1002/ajmg.a.31060
Ma Y, Cui W, Yang J, Qu J, Di C, Amin HM, Lai R, Ritz J, Krause DS, Chai L (outubro de 2006). «SALL4, a novel oncogene, is constitutively expressed in human acute myeloid leukemia (AML) and induces AML in transgenic mice». Blood. 108 (8): 2726–2735. PMC 1895586. PMID 16763212. doi:10.1182/blood-2006-02-001594
Paradisi I, Arias S (fevereiro de 2007). «IVIC syndrome is caused by a c.2607delA mutation in the SALL4 locus». American Journal of Medical Genetics Part A. 143 (4): 326–332. PMID 17256792. doi:10.1002/ajmg.a.31603
Habano W, Sugai T, Jiao YF, Nakamura S (outubro de 2007). «Novel approach for detecting global epigenetic alterations associated with tumor cell aneuploidy». International Journal of Cancer. 121 (7): 1487–1493. PMID 17546590. doi:10.1002/ijc.22847
Yang J, Chai L, Liu F, Fink LM, Lin P, Silberstein LE, Amin HM, Ward DC, Ma Y (junho de 2007). «Bmi-1 is a target gene for SALL4 in hematopoietic and leukemic cells». Proceedings of the National Academy of Sciences of the United States of America. 104 (25): 10494–10499. PMC 1965541. PMID 17557835. doi:10.1073/pnas.0704001104

Referências

↑ «Doenças geneticamente associadas a SALL4 ver/editar referências no wikidata»
↑ «Human PubMed Reference:»
↑ «Entrez Gene: SALL4 sal-like 4 (Drosophila)»
↑ Tatetsu H, Kong NR, Chong G, Amabile G, Tenen DG, Chai L (junho de 2016). «SALL4, the missing link between stem cells, development and cancer». Gene. 584 (2): 111–119. PMC 4823161. PMID 26892498. doi:10.1016/j.gene.2016.02.019
↑ Kühnlein RP, Frommer G, Friedrich M, Gonzalez-Gaitan M, Weber A, Wagner-Bernholz JF, Gehring WJ, Jäckle H, Schuh R (janeiro de 1994). «spalt encodes an evolutionarily conserved zinc finger protein of novel structure which provides homeotic gene function in the head and tail region of the Drosophila embryo». The EMBO Journal. 13 (1): 168–179. PMC 394790. PMID 7905822. doi:10.1002/j.1460-2075.1994.tb06246.x
↑ Kühnlein RP, Brönner G, Taubert H, Schuh R (agosto de 1997). «Regulation of Drosophila spalt gene expression». Mechanisms of Development. 66 (1–2): 107–118. PMID 9376314. doi:10.1016/s0925-4773(97)00103-2
↑ Kohlhase J, Chitayat D, Kotzot D, Ceylaner S, Froster UG, Fuchs S, Montgomery T, Rösler B (setembro de 2005). «SALL4 mutations in Okihiro syndrome (Duane-radial ray syndrome), acro-renal-ocular syndrome, and related disorders». Human Mutation. 26 (3): 176–183. PMID 16086360. doi:10.1002/humu.20215
↑ Kohlhase J, Heinrich M, Schubert L, Liebers M, Kispert A, Laccone F, Turnpenny P, Winter RM, Reardon W (novembro de 2002). «Okihiro syndrome is caused by SALL4 mutations». Human Molecular Genetics. 11 (23): 2979–2987. PMID 12393809. doi:10.1093/hmg/11.23.2979
↑ Al-Baradie R, Yamada K, St Hilaire C, Chan WM, Andrews C, McIntosh N, Nakano M, Martonyi EJ, Raymond WR, Okumura S, Okihiro MM, Engle EC (novembro de 2002). «Duane radial ray syndrome (Okihiro syndrome) maps to 20q13 and results from mutations in SALL4, a new member of the SAL family». American Journal of Human Genetics. 71 (5): 1195–1199. PMC 385096. PMID 12395297. doi:10.1086/343821
↑ Alves, Leandro Ucela; Perez, Ana Beatriz Alvarez; Alonso, Luis Garcia; Otto, Paulo Alberto; Mingroni-Netto, Regina Célia (1 de fevereiro de 2016). «Novel frameshift variant in gene SALL4 causing Okihiro syndrome». European Journal of Medical Genetics. 59 (2): 80–85. PMID 26791099. doi:10.1016/j.ejmg.2015.12.015
↑ «Scientists found four potential liver cancer-killing compounds». Tech Explorist (em inglês). 30 de dezembro de 2019. Consultado em 30 de dezembro de 2019

[1] «Doenças geneticamente associadas a SALL4 ver/editar referências no wikidata»

[2] «Human PubMed Reference:»

[entrez-3] «Entrez Gene: SALL4 sal-like 4 (Drosophila)»

[4] Tatetsu H, Kong NR, Chong G, Amabile G, Tenen DG, Chai L (junho de 2016). «SALL4, the missing link between stem cells, development and cancer». Gene. 584 (2): 111–119. PMC 4823161. PMID 26892498. doi:10.1016/j.gene.2016.02.019

[5] Kühnlein RP, Frommer G, Friedrich M, Gonzalez-Gaitan M, Weber A, Wagner-Bernholz JF, Gehring WJ, Jäckle H, Schuh R (janeiro de 1994). «spalt encodes an evolutionarily conserved zinc finger protein of novel structure which provides homeotic gene function in the head and tail region of the Drosophila embryo». The EMBO Journal. 13 (1): 168–179. PMC 394790. PMID 7905822. doi:10.1002/j.1460-2075.1994.tb06246.x

[6] Kühnlein RP, Brönner G, Taubert H, Schuh R (agosto de 1997). «Regulation of Drosophila spalt gene expression». Mechanisms of Development. 66 (1–2): 107–118. PMID 9376314. doi:10.1016/s0925-4773(97)00103-2

[7] Kohlhase J, Chitayat D, Kotzot D, Ceylaner S, Froster UG, Fuchs S, Montgomery T, Rösler B (setembro de 2005). «SALL4 mutations in Okihiro syndrome (Duane-radial ray syndrome), acro-renal-ocular syndrome, and related disorders». Human Mutation. 26 (3): 176–183. PMID 16086360. doi:10.1002/humu.20215

[Kohlhase_2002-8] Kohlhase J, Heinrich M, Schubert L, Liebers M, Kispert A, Laccone F, Turnpenny P, Winter RM, Reardon W (novembro de 2002). «Okihiro syndrome is caused by SALL4 mutations». Human Molecular Genetics. 11 (23): 2979–2987. PMID 12393809. doi:10.1093/hmg/11.23.2979

[9] Al-Baradie R, Yamada K, St Hilaire C, Chan WM, Andrews C, McIntosh N, Nakano M, Martonyi EJ, Raymond WR, Okumura S, Okihiro MM, Engle EC (novembro de 2002). «Duane radial ray syndrome (Okihiro syndrome) maps to 20q13 and results from mutations in SALL4, a new member of the SAL family». American Journal of Human Genetics. 71 (5): 1195–1199. PMC 385096. PMID 12395297. doi:10.1086/343821

[10] Alves, Leandro Ucela; Perez, Ana Beatriz Alvarez; Alonso, Luis Garcia; Otto, Paulo Alberto; Mingroni-Netto, Regina Célia (1 de fevereiro de 2016). «Novel frameshift variant in gene SALL4 causing Okihiro syndrome». European Journal of Medical Genetics. 59 (2): 80–85. PMID 26791099. doi:10.1016/j.ejmg.2015.12.015

[11] «Scientists found four potential liver cancer-killing compounds». Tech Explorist (em inglês). 30 de dezembro de 2019. Consultado em 30 de dezembro de 2019

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