OpenLB
Open Library of Bioscience
Advanced Search
Frontiers in cell and developmental biology
2022;10 1046415.

Modeling (not so) rare developmental disorders associated with mutations in the protein-tyrosine phosphatase SHP2.

Maja Solman, Daniëlle T J Woutersen, Jeroen den Hertog
Author Information
  1. Maja Solman: Hubrecht Institute-KNAW, University Medical Center Utrecht, Utrecht, Netherlands.
  2. Daniëlle T J Woutersen: Hubrecht Institute-KNAW, University Medical Center Utrecht, Utrecht, Netherlands.
  3. Jeroen den Hertog: Hubrecht Institute-KNAW, University Medical Center Utrecht, Utrecht, Netherlands.
PMID: 36407105 DOI: 10.3389/fcell.2022.1046415

Abstract

Src homology region 2 (SH2)-containing protein tyrosine phosphatase 2 (SHP2) is a highly conserved protein tyrosine phosphatase (PTP), which is encoded by and is indispensable during embryonic development. Mutations in in human patients cause aberrant signaling of SHP2, resulting in multiple rare hereditary diseases, including Noonan Syndrome (NS), Noonan Syndrome with Multiple Lentigines (NSML), Juvenile Myelomonocytic Leukemia (JMML) and Metachondromatosis (MC). Somatic mutations in have been found to cause cancer. Here, we focus on the role of SHP2 variants in rare diseases and advances in the understanding of its pathogenesis using model systems.

Keywords

Noonan syndrome Noonan syndrome with multiple lentigenes SHP2 fruitfly metachondromatosis modeling mouse zebrafish

References

  1. PLoS Genet. 2017 Mar 27;13(3):e1006684 [PMID: 28346493]
  2. Sci Transl Med. 2021 Apr 7;13(588): [PMID: 33827975]
  3. Eur J Endocrinol. 2008 Sep;159(3):203-8 [PMID: 18562489]
  4. J Pediatr. 2004 Mar;144(3):368-74 [PMID: 15001945]
  5. J Bone Miner Res. 2014 Mar;29(3):761-9 [PMID: 23929766]
  6. J Clin Invest. 2011 Mar;121(3):1026-43 [PMID: 21339643]
  7. Hum Mol Genet. 2018 Jul 1;27(13):2276-2289 [PMID: 29659837]
  8. Orphanet J Rare Dis. 2007 Jan 14;2:4 [PMID: 17222357]
  9. Science. 1993 Mar 12;259(5101):1611-4 [PMID: 7681217]
  10. Nat Commun. 2018 Oct 30;9(1):4508 [PMID: 30375388]
  11. Nat Commun. 2013;4:2037 [PMID: 23792876]
  12. Blood. 2013 Jun 13;121(24):4925-9 [PMID: 23620576]
  13. Int J Mol Sci. 2020 Jan 10;21(2): [PMID: 31936901]
  14. Blood Adv. 2022 Jan 11;6(1):200-206 [PMID: 34555844]
  15. J Am Coll Cardiol. 2019 May 7;73(17):2237-2239 [PMID: 31047013]
  16. Blood. 2009 Apr 30;113(18):4414-24 [PMID: 19179468]
  17. Cell. 2020 Oct 15;183(2):490-502.e18 [PMID: 33002410]
  18. Pediatrics. 2020 Dec;146(6): [PMID: 33219052]
  19. PLoS One. 2014 Sep 03;9(9):e106682 [PMID: 25184253]
  20. RSC Med Chem. 2022 Jan 15;13(3):246-257 [PMID: 35434626]
  21. Cell Rep. 2015 Oct 20;13(3):504-515 [PMID: 26456833]
  22. J Biol Chem. 2005 Feb 18;280(7):5350-60 [PMID: 15574420]
  23. J Appl Physiol (1985). 2015 Jan 1;118(1):124-31 [PMID: 25359717]
  24. Prog Nucleic Acid Res Mol Biol. 2003;73:171-220 [PMID: 12882518]
  25. Br J Haematol. 2019 Oct;187(2):163-173 [PMID: 31222725]
  26. Nature. 2010 Jun 10;465(7299):808-12 [PMID: 20535210]
  27. Sci Transl Med. 2021 Apr 28;13(591): [PMID: 33910978]
  28. Horm Res Paediatr. 2015;83(3):167-76 [PMID: 25721697]
  29. Nat Genet. 2003 Jun;34(2):148-50 [PMID: 12717436]
  30. Hum Mutat. 2018 Nov;39(11):1485-1493 [PMID: 30311384]
  31. Horm Res Paediatr. 2015;83(3):157-66 [PMID: 25503994]
  32. J Clin Invest. 2007 Aug;117(8):2123-32 [PMID: 17641779]
  33. Structure. 1998 Mar 15;6(3):249-54 [PMID: 9551546]
  34. Genes (Basel). 2022 Aug 23;13(9): [PMID: 36140671]
  35. Am J Med Genet A. 2015 Apr;167A(4):744-51 [PMID: 25708222]
  36. Front Genet. 2020 May 07;11:364 [PMID: 32457793]
  37. Stem Cell Res. 2019 Jan;34:101374 [PMID: 30640061]
  38. Circulation. 2019 Jul 16;140(3):207-224 [PMID: 31163979]
  39. Proc Natl Acad Sci U S A. 1992 Dec 1;89(23):11239-43 [PMID: 1280823]
  40. Circ Genom Precis Med. 2021 Oct;14(5):e003327 [PMID: 34463117]
  41. Science. 1993 Mar 12;259(5101):1607-11 [PMID: 8096088]
  42. Mol Cell Biol. 2006 Jun;26(12):4664-74 [PMID: 16738330]
  43. Curr Opin Endocrinol Diabetes Obes. 2018 Feb;25(1):67-73 [PMID: 29120925]
  44. Cell Oncol (Dordr). 2022 Oct;45(5):729-753 [PMID: 36066752]
  45. Development. 1998 Jan;125(1):1-9 [PMID: 9389658]
  46. PLoS One. 2011;6(6):e21058 [PMID: 21701583]
  47. Development. 2012 Mar;139(5):948-57 [PMID: 22278918]
  48. Elife. 2022 May 10;11: [PMID: 35535491]
  49. Leukemia. 2022 Jan;36(1):279-282 [PMID: 34183765]
  50. Mol Cell Biol. 1994 Oct;14(10):6674-82 [PMID: 7935386]
  51. Am J Med Genet A. 2022 Feb;188(2):431-445 [PMID: 34643321]
  52. Arch Dis Child. 2022 Dec;107(12):1073-1078 [PMID: 35246453]
  53. Oncogene. 2002 Mar 14;21(12):1870-5 [PMID: 11896619]
  54. Curr Biol. 2005 Nov 8;15(21):1961-7 [PMID: 16271875]
  55. J Exp Med. 2011 Sep 26;208(10):1977-88 [PMID: 21930766]
  56. PLoS Genet. 2007 Dec;3(12):e225 [PMID: 18159945]
  57. Nature. 2013 Jul 25;499(7459):491-5 [PMID: 23863940]
  58. J Clin Endocrinol Metab. 2006 Jan;91(1):300-6 [PMID: 16263833]
  59. Am J Physiol Heart Circ Physiol. 2012 Jan 1;302(1):H231-43 [PMID: 22058153]
  60. Cell Rep. 2018 Mar 6;22(10):2784-2796 [PMID: 29514104]
  61. Cancer Cell. 2005 Feb;7(2):179-91 [PMID: 15710330]
  62. Proc Natl Acad Sci U S A. 2008 Dec 2;105(48):18930-5 [PMID: 19017799]
  63. Front Endocrinol (Lausanne). 2022 Aug 18;13:951331 [PMID: 36060964]
  64. Proc Natl Acad Sci U S A. 2009 Mar 24;106(12):4736-41 [PMID: 19251646]
  65. Int J Pediatr Adolesc Med. 2016 Dec;3(4):133-142 [PMID: 30805484]
  66. Endocr J. 2019 Nov 28;66(11):983-994 [PMID: 31292302]
  67. Mol Cell. 2004 Feb 13;13(3):341-55 [PMID: 14967142]
  68. In Vitro Cell Dev Biol Anim. 2020 Dec;56(10):888-895 [PMID: 33140329]
  69. Cell Rep. 2018 Aug 7;24(6):1523-1535 [PMID: 30089263]
  70. Nature. 2016 Jul 7;535(7610):148-52 [PMID: 27362227]
  71. Hum Mol Genet. 2009 Jan 1;18(1):193-201 [PMID: 18849586]
  72. J Clin Med. 2022 Apr 05;11(7): [PMID: 35407641]
  73. PLoS One. 2014 Apr 15;9(4):e94884 [PMID: 24736444]
  74. iScience. 2021 Dec 09;25(1):103596 [PMID: 34988410]
  75. J Clin Invest. 2016 Aug 1;126(8):2989-3005 [PMID: 27348588]
  76. Neuron. 2007 Apr 19;54(2):245-62 [PMID: 17442246]
  77. J Biol Chem. 2001 Jun 29;276(26):24380-7 [PMID: 11323411]
  78. Blood. 2019 Mar 7;133(10):1060-1070 [PMID: 30670449]
  79. J Clin Invest. 1988 Oct;82(4):1430-6 [PMID: 3262628]
  80. Proc Natl Acad Sci U S A. 1994 Jul 19;91(15):7335-9 [PMID: 8041791]
  81. J Med Genet. 2021 Jul;58(7):465-474 [PMID: 32737134]
  82. Nature. 2016 Nov 10;539(7628):304-308 [PMID: 27783593]
  83. PLoS Genet. 2011 Apr;7(4):e1002050 [PMID: 21533187]
  84. J Med Genet. 2014 Oct;51(10):689-97 [PMID: 25097206]
  85. J Med Chem. 2022 Feb 24;65(4):3066-3079 [PMID: 35157464]
  86. Am J Hum Genet. 2006 Feb;78(2):279-90 [PMID: 16358218]
  87. Nat Genet. 2001 Dec;29(4):465-8 [PMID: 11704759]
  88. Eur J Hum Genet. 2017 Apr;25(4):509-511 [PMID: 28098151]
  89. Mol Cell Biol. 1994 Jan;14(1):509-17 [PMID: 8264620]
  90. Cardiovasc Drugs Ther. 2022 Aug;36(4):589-604 [PMID: 33689087]
  91. J Neurochem. 2010 Apr;113(1):200-12 [PMID: 20132481]
  92. Neurosci Lett. 2017 May 10;649:41-47 [PMID: 28366775]
  93. Am J Hum Genet. 2002 Jun;70(6):1555-63 [PMID: 11992261]
  94. J Biol Chem. 2004 May 28;279(22):22992-5 [PMID: 15031289]
  95. J Biol Chem. 2000 Feb 25;275(8):5453-9 [PMID: 10681522]
  96. J Biol Chem. 2013 Apr 12;288(15):10472-82 [PMID: 23457302]
  97. Mol Cell Biol. 2012 May;32(10):1867-78 [PMID: 22431513]
  98. Endocr Rev. 2018 Oct 1;39(5):676-700 [PMID: 29924299]
  99. Cell. 2009 Oct 2;139(1):186-98 [PMID: 19804763]
  100. Orphanet J Rare Dis. 2008 May 27;3:13 [PMID: 18505544]
  101. J Biol Chem. 2021 Jan-Jun;296:100538 [PMID: 33722610]
  102. Blood. 2010 Nov 4;116(18):3611-21 [PMID: 20651068]
  103. Proc Natl Acad Sci U S A. 2009 Sep 8;106(36):15436-41 [PMID: 19706403]
  104. Dev Cell. 2006 Mar;10(3):317-27 [PMID: 16516835]
  105. Sci Transl Med. 2017 Jun 14;9(394): [PMID: 28615361]
  106. J Proteome Res. 2020 Jan 3;19(1):194-203 [PMID: 31657576]
  107. J Biol Chem. 2004 Feb 27;279(9):8497-505 [PMID: 14665621]
  108. Elife. 2021 Mar 23;10: [PMID: 33755016]
  109. Biochemistry. 2014 Jul 1;53(25):4136-51 [PMID: 24935154]
  110. Hematology Am Soc Hematol Educ Program. 2018 Nov 30;2018(1):307-312 [PMID: 30504325]
  111. Cell. 1998 Feb 20;92(4):441-50 [PMID: 9491886]
  112. Br J Haematol. 1992 Jan;80(1):40-8 [PMID: 1311195]
  113. Nat Commun. 2015 Nov 30;6:8859 [PMID: 26617336]
  114. Comput Struct Biotechnol J. 2021 Apr 20;19:2398-2415 [PMID: 34025932]
  115. Wiley Interdiscip Rev Dev Biol. 2018 May;7(3):e312 [PMID: 29436122]
  116. J Med Chem. 2021 Nov 11;64(21):15973-15990 [PMID: 34714648]
  117. J Cell Mol Med. 2015 Sep;19(9):2075-83 [PMID: 26088100]
  118. iScience. 2021 Mar 13;24(4):102306 [PMID: 33855281]
  119. Dev Cell. 2010 May 18;18(5):750-62 [PMID: 20493809]
  120. Am J Med Genet C Semin Med Genet. 2011 May 15;157C(2):83-9 [PMID: 21500339]
  121. J Neurosci. 2014 Mar 5;34(10):3767-78 [PMID: 24599474]
  122. Rare Dis. 2013 Oct 02;1:e26657 [PMID: 25003010]
  123. Stem Cell Res Ther. 2020 Jun 3;11(1):209 [PMID: 32493428]
  124. Lancet. 2013 Jan 26;381(9863):333-42 [PMID: 23312968]
  125. Spine (Phila Pa 1976). 2013 Oct 1;38(21):E1307-12 [PMID: 23873233]
  126. Hum Mol Genet. 2006 Feb 15;15(4):543-53 [PMID: 16399795]
  127. Nat Neurosci. 2014 Dec;17(12):1736-43 [PMID: 25383899]
  128. Eur J Med Genet. 2015 Oct;58(10):509-25 [PMID: 26341048]
  129. Am J Med Genet C Semin Med Genet. 2020 Mar;184(1):73-80 [PMID: 32022400]
  130. BMC Struct Biol. 2014 Mar 14;14:10 [PMID: 24628801]
  131. J Biol Chem. 2006 Mar 10;281(10):6785-92 [PMID: 16377799]
  132. Am J Dis Child. 1968 Oct;116(4):373-80 [PMID: 4386970]
  133. J Biol Chem. 2005 Sep 2;280(35):30984-93 [PMID: 15987685]
  134. Development. 2014 May;141(9):1961-70 [PMID: 24718990]
  135. Proc Natl Acad Sci U S A. 2014 Oct 21;111(42):E4494-503 [PMID: 25288766]
  136. J Pharmacol Sci. 2020 Nov;144(3):139-146 [PMID: 32921395]
  137. Mol Cell Biol. 2003 Nov;23(21):7875-86 [PMID: 14560030]
  138. Blood. 1991 Mar 1;77(5):925-9 [PMID: 1704804]
  139. Blood. 2019 Dec 19;134(25):2304-2317 [PMID: 31562133]
  140. Mol Syndromol. 2022 Feb;13(1):1-11 [PMID: 35221870]
  141. Development. 2006 Mar;133(6):1133-42 [PMID: 16481357]
  142. Expert Opin Ther Targets. 2022 Apr;26(4):319-332 [PMID: 35503226]
  143. Sci Signal. 2019 Mar 05;12(571): [PMID: 30837304]
  144. JCI Insight. 2016 Dec 8;1(20):e90220 [PMID: 27942593]
  145. JCI Insight. 2020 Aug 6;5(15): [PMID: 32584792]
  146. eNeuro. 2020 Mar 6;7(2): [PMID: 32071072]
  147. Proc Natl Acad Sci U S A. 2012 Mar 13;109(11):4257-62 [PMID: 22371576]
  148. Blood. 2005 Sep 15;106(6):2183-5 [PMID: 15928039]
  149. Adv Cancer Res. 2010;106:53-89 [PMID: 20399956]
  150. Mol Cell Biol. 2014 Aug;34(15):2874-89 [PMID: 24865967]
  151. Pediatrics. 2010 Oct;126(4):746-59 [PMID: 20876176]
  152. Nat Med. 2004 Aug;10(8):849-57 [PMID: 15273746]
  153. J Clin Endocrinol Metab. 2005 Sep;90(9):5377-81 [PMID: 15985475]
  154. Sci Signal. 2018 Mar 20;11(522): [PMID: 29559584]
  155. PLoS One. 2017 Jun 5;12(6):e0178905 [PMID: 28582432]
  156. Mol Syndromol. 2012 Apr;2(6):251-253 [PMID: 22822385]
Journal Article Review
Article has an altmetric score of 1

Word Cloud

Created with Highcharts 10.0.0SHP2Noonanphosphataserare2proteintyrosinecausemultiplediseasesSyndromemutationssyndromeSrchomologyregionSH2-containinghighlyconservedPTPencodedindispensableembryonicdevelopmentMutationshumanpatientsaberrantsignalingresultinghereditaryincludingNSMultipleLentiginesNSMLJuvenileMyelomonocyticLeukemiaJMMLMetachondromatosisMCSomaticfoundcancerfocusrolevariantsadvancesunderstandingpathogenesisusingmodelsystemsModelingdevelopmentaldisordersassociatedprotein-tyrosinelentigenesfruitflymetachondromatosismodelingmousezebrafish

Similar Articles

Cited By