{"id":11122,"date":"2018-12-13T18:00:02","date_gmt":"2018-12-13T17:00:02","guid":{"rendered":"http:\/\/www.wjst.de\/blog\/?p=11122"},"modified":"2019-06-16T11:12:39","modified_gmt":"2019-06-16T10:12:39","slug":"phenotype-of-the-crisp-cas-babies","status":"publish","type":"post","link":"https:\/\/www.wjst.de\/blog\/sciencesurf\/2018\/12\/phenotype-of-the-crisp-cas-babies\/","title":{"rendered":"Phenotype of the CRISPR CAS babies"},"content":{"rendered":"
\"\"<\/a>
CCR5 annotation, including the known delta32 Mutation and the three mutations introduced by He Jiankui. PAM=Protospacer adjacent motif, DSB=putative double strand break.<\/figcaption><\/figure>\n

From the CCR5<\/a>\u00a0sequence\u00a0we get the following amino acid sequences<\/p>\n

\r\n>sp|WT.P51681|CCR5_HUMANC-Cchemokinereceptortype5OS=HomosapiensOX=9606GN=CCR5PE=1SV=1\r\nMDYQVSSPIYDINYYTSEPCQKINVKQIAARLLPPLYSLVFIFGFVGNMLVILILINCKR\r\nLKSMTDIYLLNLAISDLFFLLTVPFWAHYAAAQWDFGNTMCQLLTGLYFIGFFSGIFFII\r\nLLTIDRYLAVVHAVFALKARTVTFGVVTSVITWVVAVFASLPGIIFTRSQKEGLHYTCSS\r\nHFPYSQYQFWKNFQTLKIVILGLVLPLLVMVICYSGILKTLLRCRNEKKRHRAVRLIFTI\r\nMIVYFLFWAPYNIVLLLNTFQEFFGLNNCSSSNRLDQAMQVTETLGMTHCCINPIIYAFV\r\nGEKFRNYLLVFFQKHIAKRFCKCCSIFQQEAPERASSVYTRSTGEQEISVGL\r\n\r\n>sp|-32.P51681|CCR5_HUMANC-Cchemokinereceptortype5OS=HomosapiensOX=9606GN=CCR5PE=1SV=1\r\nMDYQVSSPIYDINYYTSEPCQKINVKQIAARLLPPLYSLVFIFGFVGNMLVILILINCKR\r\nLKSMTDIYLLNLAISDLFFLLTVPFWAHYAAAQWDFGNTMCQLLTGLYFIGFFSGIFFII\r\nLLTIDRYLAVVHAVFALKARTVTFGVVTSVITWVVAVFASLPGIIFTRSQKEGLHYTCSS\r\nHFPY\r\nIKDSHLGAGPAAACHGHLLLGNPKNSASVSK\r\n\r\n>sp|-15.P51681|CCR5_HUMANC-Cchemokinereceptortype5OS=HomosapiensOX=9606GN=CCR5PE=1SV=1\r\nMDYQVSSPIYDINYYTSEPCQKINVKQIAARLLPPLYSLVFIFGFVGNMLVILILINCKR\r\nLKSMTDIYLLNLAISDLFFLLTVPFWAHYAAAQWDFGNTMCQLLTGLYFIGFFSGIFFII\r\nLLTIDRYLAVVHAVFALKARTVTFGVVTSVITWVVAVFASLPGIIFTRSQKEGLHYTCS\r\nSQYQFWKNFQTLKIVILGLVLPLLVMVICYSGILKTLLRCRNEKKRHRAVRLIFTI\r\nMIVYFLFWAPYNIVLLLNTFQEFFGLNNCSSSNRLDQAMQVTETLGMTHCCINPIIYAFV\r\nGEKFRNYLLVFFQKHIAKRFCKCCSIFQQEAPERASSVYTRSTGEQEISVGL\r\n\r\n>sp|-4.P51681|CCR5_HUMANC-Cchemokinereceptortype5OS=HomosapiensOX=9606GN=CCR5PE=1SV=1\r\nMDYQVSSPIYDINYYTSEPCQKINVKQIAARLLPPLYSLVFIFGFVGNMLVILILINCKR\r\nLKSMTDIYLLNLAISDLFFLLTVPFWAHYAAAQWDFGNTMCQLLTGLYFIGFFSGIFFII\r\nLLTIDRYLAVVHAVFALKARTVTFGVVTSVITWVVAVFASLPGIIFTRSQKEGLHYTCSS\r\nHFP\r\nYSINSGRISRH\r\n\r\n>sp|+1.P51681|CCR5_HUMANC-Cchemokinereceptortype5OS=HomosapiensOX=9606GN=CCR5PE=1SV=1\r\nMDYQVSSPIYDINYYTSEPCQKINVKQIAARLLPPLYSLVFIFGFVGNMLVILILINCKR\r\nLKSMTDIYLLNLAISDLFFLLTVPFWAHYAAAQWDFGNTMCQLLTGLYFIGFFSGIFFII\r\nLLTIDRYLAVVHAVFALKARTVTFGVVTSVITWVVAVFASLPGIIFTRSQKEGLHYTCSS\r\nHFPY\r\nKSVSILEEFPDIKDSHLGAGPAAACHGHLLLGNPKNSASVSK\r\n<\/pre>\n
The -15\/WT genotype will have both, a normal and a slightly shortened CCR5 giving no HIV protection at all.\u00a0The -4\/+1 genotype may suffer the fate of non-sense mediated decay<\/a>.\u00a0Here are the amino acid predictions for each genotype (I reverted to Topcocns<\/a> as Protter had some problems in generating correct plots).<\/p>\n
\"\"<\/a><\/p>\n
\"\"<\/a>
Wildtype: There are 7 transmembrane alpha helices I to VII,\u00a0connected by three extracellular loops (ECL1\u20133) and three intracellular loops (ICL1\u20133).\u00a0ECL2, forms a \u03b2-hairpin structure (Tan 2013<\/a>).<\/figcaption><\/figure>\n
\"\"<\/a>
Known delta 32<\/figcaption><\/figure>\n
\"\"<\/a>
Nana -4 genotype has a much shorter predicted amino acid sequence with missing G protein coupling. Resembles delta 32.<\/figcaption><\/figure>\n
\"\"<\/a>
Nana +1 genotype is somewhat longer but missing helices VI and VII. No analogue known.<\/figcaption><\/figure>\n
\"\"<\/a>
Lulu -15: resembles wild type, however, will be sensitive\u00a0to allosteric changes by small-molecule CCR5 inhibitors .<\/figcaption><\/figure>\n
From the original AJHG paper<\/a>, however, also delta 32 carriers may be HIV infected. As there exists also non-CCR5 dependent virus replication, also Nana is at risk of HIV infection when being virus exposed.<\/p>\n
\"\"<\/a><\/p>\n\n
 <\/p>\n
\n  CC-BY-NC Science Surf , accessed 05.04.2026<\/span>\n <\/div>","protected":false},"excerpt":{"rendered":"
From the CCR5\u00a0sequence\u00a0we get the following amino acid sequences >sp|WT.P51681|CCR5_HUMANC-Cchemokinereceptortype5OS=HomosapiensOX=9606GN=CCR5PE=1SV=1 MDYQVSSPIYDINYYTSEPCQKINVKQIAARLLPPLYSLVFIFGFVGNMLVILILINCKR LKSMTDIYLLNLAISDLFFLLTVPFWAHYAAAQWDFGNTMCQLLTGLYFIGFFSGIFFII LLTIDRYLAVVHAVFALKARTVTFGVVTSVITWVVAVFASLPGIIFTRSQKEGLHYTCSS HFPYSQYQFWKNFQTLKIVILGLVLPLLVMVICYSGILKTLLRCRNEKKRHRAVRLIFTI MIVYFLFWAPYNIVLLLNTFQEFFGLNNCSSSNRLDQAMQVTETLGMTHCCINPIIYAFV GEKFRNYLLVFFQKHIAKRFCKCCSIFQQEAPERASSVYTRSTGEQEISVGL >sp|-32.P51681|CCR5_HUMANC-Cchemokinereceptortype5OS=HomosapiensOX=9606GN=CCR5PE=1SV=1 MDYQVSSPIYDINYYTSEPCQKINVKQIAARLLPPLYSLVFIFGFVGNMLVILILINCKR LKSMTDIYLLNLAISDLFFLLTVPFWAHYAAAQWDFGNTMCQLLTGLYFIGFFSGIFFII LLTIDRYLAVVHAVFALKARTVTFGVVTSVITWVVAVFASLPGIIFTRSQKEGLHYTCSS HFPY IKDSHLGAGPAAACHGHLLLGNPKNSASVSK >sp|-15.P51681|CCR5_HUMANC-Cchemokinereceptortype5OS=HomosapiensOX=9606GN=CCR5PE=1SV=1 MDYQVSSPIYDINYYTSEPCQKINVKQIAARLLPPLYSLVFIFGFVGNMLVILILINCKR LKSMTDIYLLNLAISDLFFLLTVPFWAHYAAAQWDFGNTMCQLLTGLYFIGFFSGIFFII LLTIDRYLAVVHAVFALKARTVTFGVVTSVITWVVAVFASLPGIIFTRSQKEGLHYTCS SQYQFWKNFQTLKIVILGLVLPLLVMVICYSGILKTLLRCRNEKKRHRAVRLIFTI MIVYFLFWAPYNIVLLLNTFQEFFGLNNCSSSNRLDQAMQVTETLGMTHCCINPIIYAFV GEKFRNYLLVFFQKHIAKRFCKCCSIFQQEAPERASSVYTRSTGEQEISVGL >sp|-4.P51681|CCR5_HUMANC-Cchemokinereceptortype5OS=HomosapiensOX=9606GN=CCR5PE=1SV=1 MDYQVSSPIYDINYYTSEPCQKINVKQIAARLLPPLYSLVFIFGFVGNMLVILILINCKR LKSMTDIYLLNLAISDLFFLLTVPFWAHYAAAQWDFGNTMCQLLTGLYFIGFFSGIFFII LLTIDRYLAVVHAVFALKARTVTFGVVTSVITWVVAVFASLPGIIFTRSQKEGLHYTCSS HFP YSINSGRISRH >sp|+1.P51681|CCR5_HUMANC-Cchemokinereceptortype5OS=HomosapiensOX=9606GN=CCR5PE=1SV=1 MDYQVSSPIYDINYYTSEPCQKINVKQIAARLLPPLYSLVFIFGFVGNMLVILILINCKR LKSMTDIYLLNLAISDLFFLLTVPFWAHYAAAQWDFGNTMCQLLTGLYFIGFFSGIFFII LLTIDRYLAVVHAVFALKARTVTFGVVTSVITWVVAVFASLPGIIFTRSQKEGLHYTCSS HFPY KSVSILEEFPDIKDSHLGAGPAAACHGHLLLGNPKNSASVSK The -15\/WT genotype will have both, a normal and a slightly shortened CCR5 giving … Continue reading Phenotype of the CRISPR CAS babies<\/span> →<\/span><\/a><\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"closed","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[2],"tags":[3079,3080,3081,3083],"class_list":["post-11122","post","type-post","status-publish","format-standard","hentry","category-genetics-biology","tag-genome-editing","tag-lulu","tag-nana","tag-crisprbabies"],"_links":{"self":[{"href":"https:\/\/www.wjst.de\/blog\/wp-json\/wp\/v2\/posts\/11122","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.wjst.de\/blog\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.wjst.de\/blog\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.wjst.de\/blog\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/www.wjst.de\/blog\/wp-json\/wp\/v2\/comments?post=11122"}],"version-history":[{"count":28,"href":"https:\/\/www.wjst.de\/blog\/wp-json\/wp\/v2\/posts\/11122\/revisions"}],"predecessor-version":[{"id":11374,"href":"https:\/\/www.wjst.de\/blog\/wp-json\/wp\/v2\/posts\/11122\/revisions\/11374"}],"wp:attachment":[{"href":"https:\/\/www.wjst.de\/blog\/wp-json\/wp\/v2\/media?parent=11122"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.wjst.de\/blog\/wp-json\/wp\/v2\/categories?post=11122"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.wjst.de\/blog\/wp-json\/wp\/v2\/tags?post=11122"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}