SDF1-CXCR4 signaling: A new player involved in DiGeorge/22q11-deletion syndrome

References

• Shprintzen RJ, Higgins AM, Antshel K, Fremont W, Roizen N, Kates W. Velo-cardio-facial syndrome. Curr Opin Pediatr 2005; 17:725-30; PMID:16282778; http://dx.doi.org/10.1097/01.mop.0000184465.73833.0b
   Google Scholar
• Scambler PJ. 22q11 deletion syndrome: a role for TBX1 in pharyngeal and cardiovascular development. Pediatr Cardiol 2010; 31:378-90; PMID:20054531; http://dx.doi.org/10.1007/s00246-009-9613-0
   Google Scholar
• Lindsay EA, Botta A, Jurecic V, Carattini-Rivera S, Cheah YC, Rosenblatt HM, Bradley A, Baldini A. Congenital heart disease in mice deficient for the DiGeorge syndrome region. Nature 1999; 401:379-83; PMID:10517636
   Google Scholar
• Jerome LA, Papaioannou VE. DiGeorge syndrome phenotype in mice mutant for the T-box gene, Tbx1. Nat Genet 2001; 27:286-91; PMID:11242110; http://dx.doi.org/10.1038/85845
   Google Scholar
• Merscher S, Funke B, Epstein JA, Heyer J, Puech A, Lu MM, Xavier RJ, Demay MB, Russell RG, Factor S, et al. TBX1 is responsible for cardiovascular defects in velo-cardio-facial/DiGeorge syndrome. Cell 2001; 104:619-29; PMID:11239417; http://dx.doi.org/10.1016/S0092-8674(01)00247-1
   Google Scholar
• Lindsay EA, Vitelli F, Su H, Morishima M, Huynh T, Pramparo T, Jurecic V, Ogunrinu G, Sutherland HF, Scambler PJ, et al. Tbx1 haploinsufficieny in the DiGeorge syndrome region causes aortic arch defects in mice. Nature 2001; 410:97-101; PMID:11242049; http://dx.doi.org/10.1038/35065105
   Google Scholar
• Zhang Z, Baldini A. In vivo response to high-resolution variation of Tbx1 mRNA dosage. Hum Mol Genet 2008; 17:150-7; PMID:17916582; http://dx.doi.org/10.1093/hmg/ddm291
   Google Scholar
• Zhang Z, Cerrato F, Xu H, Vitelli F, Morishima M, Vincentz J, Furuta Y, Ma L, Martin JF, Baldini A, et al. Tbx1 expression in pharyngeal epithelia is necessary for pharyngeal arch artery development. Development 2005; 132:5307-15; PMID:16284121; http://dx.doi.org/10.1242/dev.02086
   Google Scholar
• Zhang Z, Huynh T, Baldini A. Mesodermal expression of Tbx1 is necessary and sufficient for pharyngeal arch and cardiac outflow tract development. Development 2006; 133:3587-95; PMID:16914493; http://dx.doi.org/10.1242/dev.02539
   Google Scholar
• Arnold JS, Werling U, Braunstein EM, Liao J, Nowotschin S, Edelmann W, Hebert JM, Morrow BE. Inactivation of Tbx1 in the pharyngeal endoderm results in 22q11DS malformations. Development 2006; 133:977-87; PMID:16452092; http://dx.doi.org/10.1242/dev.02264
   Google Scholar
• Yamagishi H, Srivastava D. Unraveling the genetic and developmental mysteries of 22q11 deletion syndrome. Trends Mol Med 2003; 9:383-9; PMID:13129704; http://dx.doi.org/10.1016/S1471-4914(03)00141-2
   Google Scholar
• Epstein JA. Developing models of Digeorge syndrome. Trends Genet 2001; 17:S13-S7; PMID:11585671; http://dx.doi.org/10.1016/S0168-9525(01)02450-7
   Google Scholar
• Hutson MR, Kirby ML. Model systems for the study of heart development and disease: cardiac neural crest and conotruncal malformations. Semin Cell Dev Biol 2007; 18:101-10; PMID:17224285; http://dx.doi.org/10.1016/j.semcdb.2006.12.004
   Google Scholar
• Garg V, Yamagishi C, Hu T, Kathiriya IS, Yamagishi H, Srivastava D. Tbx1, a DiGeorge syndrome candidate gene, is regulated by sonic hedgehog during pharyngeal arch development. Dev Biol 2001; 235:62-73; PMID:11412027; http://dx.doi.org/10.1006/dbio.2001.0283
   Google Scholar
• Kochilas L, Merscher-Gomez S, Lu MM, Potluri V, Liao J, Kucherlapati R, Morrow B, Epstein JA. The role of neural crest during cardiac development in a mouse model of DiGeorge syndrome. Develop Biol 2002; 251:157-66; PMID:12413905; http://dx.doi.org/10.1006/dbio.2002.0819
   Google Scholar
• Calmont A, Ivins S, Van Bueren KL, Papangeli I, Kyriakopoulou V, Andrews WD, Martin JF, Moon AM, Illingworth EA, Basson MA, et al. Tbx1 controls cardiac neural crest cell migration during arch artery development by regulating Gbx2 expression in the pharyngeal ectoderm. Development 2009; 136:3173-83; PMID:19700621; http://dx.doi.org/10.1242/dev.028902
   Google Scholar
• Vitelli F, Morishima M, Taddei I, Lindsay EA, Baldini A. Tbx1 mutation causes multiple cardiovascular defects and disrupts neural crest and cranial nerve migratory pathways. Hum Mol Genet 2002; 11:915-22; PMID:11971873; http://dx.doi.org/10.1093/hmg/11.8.915
   Google Scholar
• Vitelli F, Taddei I, Morishima M, Meyers EN, Lindsay EA, Baldini A. A genetic link between Tbx1 and fibroblast growth factor signaling. Development 2002; 129:4605-11; PMID:12223416
   Google Scholar
• Abu-Issa R, Smyth G, Smoak I, Yamamura K, Meyers EN. Fgf8 is required for pharyngeal arch and cardiovascular development in the mouse. Development 2002; 129:4613-25; PMID:12223417
   Google Scholar
• Frank DU, Fotheringham LK, Brewer JA, Muglia LJ, Tristani-Firouzi M, Capecchi MR, Moon AM. An Fgf8 mouse mutant phenocopies human 22q11 deletion syndrome. Development 2002; 129:4591-603; PMID:12223415
   Google Scholar
• Sato A, Scholl AM, Kuhn EN, Stadt HA, Decker JR, Pegram K, Hutson MR, Kirby ML. FGF8 signaling is chemotactic for cardiac neural crest cells. Dev Biol 2011; 354:18-30; PMID:21419761; http://dx.doi.org/10.1016/j.ydbio.2011.03.010
   Google Scholar
• McLennan R, Teddy JM, Kasemeier-Kulesa JC, Romine MH, Kulesa PM. Vascular endothelial growth factor (VEGF) regulates cranial neural crest migration in vivo. Dev Biol 2010; 339:114-25; PMID:20036652; http://dx.doi.org/10.1016/j.ydbio.2009.12.022
   Google Scholar
• Kulesa PM, Bailey CM, Kasemeier-Kulesa JC, McLennan R. Cranial neural crest migration: New rules for an old road. Dev Biol 2010:534-554; PMID:21146519
   Google Scholar
• Kasemeier-Kulesa JC, McLennan R, Romine MH, Kulesa PM, Lefcort F. CXCR4 controls ventral migration of sympathetic precursor cells. J Neurosci 2010; 30:13078-88; PMID:20881125; http://dx.doi.org/10.1523/JNEUROSCI.0892-10.2010
   Google Scholar
• Ma Q, Jones D, Borghesani PR, Segal RA, Nagasawa T, Kishimoto T, Bronson RT, Springer TA. Impaired B-lymphopoieisis, myelopoiesis, and derailed cerebellar neuron migration in CXCR4- and SDF1-deficient mice. Proc Natl Acad Sci USA 1998; 95:9448-53
   Google Scholar
• Zou YR, Kottmann AH, Kuroda M, Taniuchi I, Littman DR. Function of the chemokine receptor CXCR4 in haematopoiesis and in cerebellar development. Nature 1998; 393:595-9; PMID:9634238; http://dx.doi.org/10.1038/31269
   Google Scholar
• Meechan DW, Tucker ES, Maynard TM, LaMantia AS. Cxcr4 regulation of interneuron migration is disrupted in 22q11.2 deletion syndrome. Proc Natl Acad Sci U S A 2012; 109:18601-6; PMID:23091025; http://dx.doi.org/10.1073/pnas.1211507109
   Google Scholar
• Toritsuka M, Kimoto S, Muraki K, Landek-Salgado MA, Yoshida A, Yamamoto N, Horiuchi Y, Hiyama H, Tajinda K, Keni N, et al. Deficits in microRNA-mediated Cxcr4/Cxcl12 signaling in neurodevelopmental deficits in a 22q11 deletion syndrome mouse model. Proc Natl Acad Sci U S A 2013; 110:17552-7; PMID:24101523; http://dx.doi.org/10.1073/pnas.1312661110
   Google Scholar
• Castellanos R, Xie Q, Zheng D, Cvekl A, Morrow BE. Mammalian TBX1 preferentially binds and regulates downstream targets via a tandem T-site repeat. PLoS One 2014; 9:e95151; PMID:24797903; http://dx.doi.org/10.1371/journal.pone.0095151
   Google Scholar
• Escot S, Blavet C, Hartle S, Duband JL, Fournier-Thibault C. Misregulation of SDF1-CXCR4 signaling impairs early cardiac neural crest cell migration leading to conotruncal defects. Circ Res 2013; 113:505-16; PMID:23838132; http://dx.doi.org/10.1161/CIRCRESAHA.113.301333
   Google Scholar
• Escot S, Blavet C, Faure E, Zaffran S, Duband JL, Fournier-Thibault C. Disruption of CXCR4 signaling in pharyngeal neural crest cells causes DiGeorge syndrome-like malformations. Development 2016; 143:582-8; PMID:26755698; http://dx.doi.org/10.1242/dev.126573
   Google Scholar
• van Bueren KL, Papangeli I, Rochais F, Pearce K, Roberts C, Calmont A, Szumska D, Kelly RG, Bhattacharya S, Scambler PJ. Hes1 expression is reduced in Tbx1 null cells and is required for the development of structures affected in 22q11 deletion syndrome. Dev Biol 2010; 340:369-80; PMID:20122914; http://dx.doi.org/10.1016/j.ydbio.2010.01.020
   Google Scholar
• Yamagishi H, Maeda J, Hu T, McAnally J, Conway SJ, Kume T, Meyers EN, Yamagishi C, Srivastava D. Tbx1 is regulated by tissue-specific forkhead proteins through a common Sonic hedgehog-responsive enhancer. Genes Dev 2003; 17:269-81; PMID:12533514; http://dx.doi.org/10.1101/gad.1048903
   Google Scholar
• Katoh M, Katoh M. Integrative genomic analyses of CXCR4: transcriptional regulation of CXCR4 based on TGFbeta, Nodal, Activin signaling and POU5F1, FOXA2, FOXC2, FOXH1, SOX17, and GFI1 transcription factors. Int J Oncol 2010; 36:415-20; PMID:20043076
   Google Scholar
• Park EJ, Ogden LA, Talbot A, Evans S, Cai CL, Black BL, Frank DU, Moon AM. Required, tissue-specific roles for Fgf8 in outflow tract formation and remodeling. Development 2006; 133:2419-33; PMID:16720879; http://dx.doi.org/10.1242/dev.02367
   Google Scholar
• Vitelli F, Zhang Z, Huynh T, Sobotka A, Mupo A, Baldini A. Fgf8 expression in the Tbx1 domain causes skeletal abnormalities and modifies the aortic arch but not the outflow tract phenotype of Tbx1 mutants. Dev Biol 2006; 295:559-70; PMID:16696966; http://dx.doi.org/10.1016/j.ydbio.2006.03.044
   Google Scholar
• Karpinski BA, Maynard TM, Fralish MS, Nuwayhid S, Zohn IE, Moody SA, LaMantia AS. Dysphagia and disrupted cranial nerve development in a mouse model of DiGeorge (22q11) deletion syndrome. Dis Model Mech 2014; 7:245-57; PMID:24357327; http://dx.doi.org/10.1242/dmm.012484
   Google Scholar
• Farrell MJ, Stadt H, Wallis KT, Scambler P, Hixon RL, Wolfe R, Leatherbury L, Kirby ML. HIRA, a DiGeorge syndrome candidate gene, is required for cardiac outflow tract septation. Circ Res 1999; 84:127-35; PMID:9933243; http://dx.doi.org/10.1161/01.RES.84.2.127
   Google Scholar
• Yamagishi C, Hierck BP, Gittenberger-De Groot AC, Yamagishi H, Srivastava D. Functional attenuation of UFD1l, a 22q11.2 deletion syndrome candidate gene, leads to cardiac outflow septation defects in chicken embryos. Pediatr Res 2003; 53:546-53; PMID:12612215; http://dx.doi.org/10.1203/01.PDR.0000055765.11310.E3
   Google Scholar
• Hierck BP, Molin DG, Boot MJ, Poelmann RE, Gittenberger-de Groot AC. A chicken model for DGCR6 as a modifier gene in the DiGeorge critical region. Pediatr Res 2004; 56:440-8; PMID:15333760; http://dx.doi.org/10.1203/01.PDR.0000136151.50127.1C
   Google Scholar