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Michael Heide, Christiane
Haffner, Ayako Murayama, Yoko Kurotaki, Haruka Shinohara, Hideyuki Okano, Erika Sasaki and Wieland B. Huttner. Human-specific ARHGAP11B increases size and folding of primate neocortex in the fetal marmoset, SCIENCE,18 Jun 2020, Vol 369, Issue 6503,pp. 546-550, DOI:
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904:(after lysine-220) constitute not only a unique sequence, resulting from a frameshifting deletion, but also are functionally distinct from their counterpart in
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944:
478:
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1079:
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comprises most of the GAP domain (until lysine-220), followed by a novel C-terminal sequence that lacks the 756 C-terminal amino acids of
960:
695:
838:
1066:
940:
1018:
underlies the specific properties of ARHGAP11B that likely contributed to the evolutionary expansion of the human neocortex".
943:. It does not affect the adenine nucleotide exchange activity of the translocator, but it does lead to delayed opening of the
1015:
816:
124:
99:
777:
occurred on the human lineage after the divergence from the chimpanzee lineage but before the divergence from
Neanderthals.
1062:
137:
947:, thus allowing for greater sequestration of calcium. Furthermore, the presence of ARHGAP11B in the mitochondria boosts
57:
130:
801:
1041:. This revealed that ARHGAP11B is the gene responsible for the development of the neocortex during human evolution.
769:
in development and evolutionary expansion of the human neocortex, a conclusion consistent with the finding that the
812:
820:
805:
1457:
1401:"Expression of human-specific ARHGAP11B in mice leads to neocortex expansion and increased memory flexibility"
1063:
ENSG00000286139, ENSG00000285077 GRCh38: Ensembl release 89: ENSG00000274734, ENSG00000286139, ENSG00000285077
928:
529:
525:
521:
927:
is involved in neocortex folding; however, its precise function remains unknown. Several genes involved in
1008:
genetic factors of recent brain evolution and difference of modern humans to (other) apes and
Neanderthals
1007:
1034:
113:
1157:
Schuster S, Rivalan M, Strauss U, Stoenica L, Trimbuch T, Rademacher N, et al. (September 2015).
1361:
1289:
1113:
952:
48:, B'-T, FAM7B1, Rho GTPase activating protein 11B, GAP (1-8), ArhGAP11B and human encephalisation
44:
1208:"Human-Specific ARHGAP11B Acts in Mitochondria to Expand Neocortical Progenitors by Glutaminolysis"
659:
614:
1188:
1139:
73:
1348:
Sudmant PH, Kitzman JO, Antonacci F, Alkan C, Malig M, Tsalenko A, et al. (October 2010).
1102:"Human-specific gene ARHGAP11B promotes basal progenitor amplification and neocortex expansion"
856:
69:
1430:
1399:
Xing L, Kubik-Zahorodna A, Namba T, Pinson A, Florio M, Prochazka J, et al. (July 2021).
1387:
1315:
1229:
1206:
Namba T, Dóczi J, Pinson A, Xing L, Kalebic N, Wilsch-Bräuninger M, et al. (March 2020).
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1026:
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37:
765:
folding. It is capable of causing neocortex folding in mice. This likely reflects a role for
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1219:
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935:
or other proteins in the Rho signalling pathway. It has been reported that it is located in
860:, which is found throughout the animal kingdom and encodes a Rho GTPase-activating-protein (
770:
217:
148:
1022:
951:, most likely due to the ability of mitochondria to sequester calcium, thereby activating
758:
192:
1159:"NOMA-GAP/ARHGAP33 regulates synapse development and autistic-like behavior in the mouse"
1365:
1293:
1248:"'Breakthrough' finding shows how modern humans grow more brain cells than Neanderthals"
1117:
1425:
1400:
1382:
1349:
1310:
1273:
1100:
Florio M, Albert M, Taverna E, Namba T, Brandl H, Lewitus E, et al. (March 2015).
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National Center for
Biotechnology Information, U.S. National Library of Medicine
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A 2020 study found that when ARHGAP11B was introduced into the primate
558:
507:
708:
464:
1272:
Florio M, Namba T, Pääbo S, Hiller M, Huttner WB (December 2016).
1030:
896:, did not exhibit RhoGAP activity in a RhoA/Rho-kinase–based cell
427:
423:
61:
761:, controls neural progenitor proliferation, and contributes to
1350:"Diversity of human copy number variation and multicopy genes"
970:
784:
900:
assay. This indicates that the C-terminal 47 amino-acids of
200:
987:
398:
regulation of small GTPase mediated signal transduction
322:
673:
652:
628:
607:
1058:
1056:
1054:
1274:"A single splice site mutation in human-specific
147:
16:Protein-coding gene in the species Homo sapiens
916:did not inhibit the latter's RhoGAP activity.
1037:structures), leading to the expansion of the
854:encodes 267 amino acids. A truncated copy of
8:
1006:Changes in ARHGAP11B are one of several key
1029:, upper layer neurons, and brain wrinkles (
819:. Unsourced material may be challenged and
945:mitochondrial permeability transition pore
438:
348:
188:
85:
1424:
1381:
1309:
1223:
1174:
1125:
839:Learn how and when to remove this message
1095:
1093:
757:is a human-specific gene that amplifies
1050:
1278:causes basal progenitor amplification"
413:positive regulation of GTPase activity
18:
152:
111:
106:
7:
817:adding citations to reliable sources
961:oxoglutarate dehydrogenase complex
908:. In this assay, co-expression of
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469:
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226:
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14:
974:
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136:
129:
123:
98:
941:adenine nucleotide translocator
1016:single nucleotide substitution
311:More reference expression data
1:
1010:. A 2016 study suggests, one
121:
1453:Genes on human chromosome 15
1225:10.1016/j.neuron.2019.11.027
880:In contrast to full-length
408:cerebral cortex development
258:stromal cell of endometrium
1474:
1080:"Human PubMed Reference:"
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42:
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30:
26:
21:
1417:10.15252/embj.2020107093
939:, where it binds to the
696:Chr 15: 30.62 – 30.65 Mb
1374:10.1126/science.1197005
1333:10.1126/science.abb2401
1127:10.1126/science.aaa1975
929:intellectual disability
1302:10.1126/sciadv.1601941
955:dehydrogenases in the
931:encode proteins with
114:Chromosome 15 (human)
78:ARHGAP11B - orthologs
1163:Molecular Psychiatry
953:mitochondrial matrix
813:improve this section
1366:2010Sci...330..641S
1294:2016SciA....2E1941F
1118:2015Sci...347.1465F
1112:(6229): 1465–1470.
959:, particularly the
403:signal transduction
254:ganglionic eminence
1176:10.1038/mp.2015.42
1027:radial glial cells
986:. You can help by
391:Biological process
375:Cellular component
359:Molecular function
1360:(6004): 641–646.
1218:(5): 867–881.e9.
1004:
1003:
957:citric acid cycle
849:
848:
841:
759:basal progenitors
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250:bone marrow cells
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1405:The EMBO Journal
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1288:(12): e1601941.
1282:Science Advances
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1169:(9): 1120–1131.
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771:gene duplication
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646:RefSeq (protein)
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262:ventricular zone
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1458:Human evolution
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1411:(13): e107093.
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1341:Further reading
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1025:, it increased
1023:common marmoset
1000:
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991:
984:needs expansion
969:
967:Human evolution
922:
886:ARHGAP11A 1-250
878:
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783:
739:View/Edit Human
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691:Location (UCSC)
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949:glutaminolysis
933:RhoGAP domains
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894:ARHGAP11A1-220
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193:RNA expression
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995:November 2022
989:
985:
982:This section
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862:RhoGAP domain
859:
858:
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798:This section
796:
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787:
786:
780:
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773:that created
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601:RefSeq (mRNA)
599:
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353:Gene ontology
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1255:. Retrieved
1251:
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1211:
1201:
1166:
1162:
1152:
1109:
1105:
1083:
1074:
1020:
1005:
992:
988:adding to it
983:
937:mitochondria
924:
923:
913:
909:
905:
901:
898:transfection
893:
889:
885:
881:
879:
869:
865:
855:
851:
850:
835:
829:January 2021
826:
811:Please help
799:
774:
766:
753:
752:
751:
678:
660:NP_001034930
657:
633:
615:NM_001039841
612:
590:
571:
547:
520:
496:
477:
457:
452:
216:
209:
53:External IDs
912:along with
246:bone marrow
175:30,649,529
162:30,624,494
31:Identifiers
1447:Categories
1257:19 October
1069:, May 2017
1045:References
270:lymph node
220:(ortholog)
1276:ARHGAP11B
1039:neocortex
925:ARHGAP11B
914:ARHGAP11A
910:ARHGAP11B
906:ARHGAP11A
902:ARHGAP11B
890:ARHGAP11B
882:ARHGAP11A
870:ARHGAP11A
866:ARHGAP11B
857:ARHGAP11A
852:ARHGAP11B
800:does not
781:Structure
775:ARHGAP11B
767:ARHGAP11B
763:neocortex
754:ARHGAP11B
443:Orthologs
70:ARHGAP11B
66:GeneCards
45:ARHGAP11B
22:ARHGAP11B
1435:33938018
1392:21030649
1320:27957544
1234:31883789
1193:21934291
1185:25869807
1144:34506325
1136:25721503
1065:–
1012:mutation
920:Function
876:Activity
728:Wikidata
422:Sources:
278:appendix
274:monocyte
242:testicle
1426:8246068
1383:3020103
1362:Bibcode
1354:Science
1311:5142801
1290:Bibcode
1252:Science
1114:Bibcode
1106:Science
1067:Ensembl
892:, like
821:removed
806:sources
559:UniProt
508:Ensembl
449:Species
428:QuickGO
382:cytosol
195:pattern
154:15q13.2
38:Aliases
1433:
1423:
1390:
1380:
1318:
1308:
1232:
1212:Neuron
1191:
1183:
1142:
1134:
1035:sulcus
711:search
709:PubMed
573:Q3KRB8
465:Entrez
323:BioGPS
62:616310
1189:S2CID
1140:S2CID
1031:gyral
1014:, a "
479:89839
458:Mouse
453:Human
424:Amigo
266:gonad
218:Mouse
211:Human
158:Start
91:Human
1431:PMID
1388:PMID
1316:PMID
1259:2022
1230:PMID
1181:PMID
1132:PMID
1033:and
884:and
804:any
802:cite
201:Bgee
149:Band
108:Chr.
58:OMIM
1421:PMC
1413:doi
1378:PMC
1370:doi
1358:330
1306:PMC
1298:doi
1220:doi
1216:105
1171:doi
1122:doi
1110:347
990:.
864:),
815:by
717:n/a
702:n/a
680:n/a
635:n/a
591:n/a
548:n/a
497:n/a
331:n/a
298:n/a
171:End
74:OMA
1449::
1429:.
1419:.
1409:40
1407:.
1403:.
1386:.
1376:.
1368:.
1356:.
1352:.
1314:.
1304:.
1296:.
1284:.
1280:.
1250:.
1228:.
1214:.
1210:.
1187:.
1179:.
1167:20
1165:.
1161:.
1138:.
1130:.
1120:.
1108:.
1104:.
1092:^
1082:.
1053:^
963:.
888:,
872:.
426:/
177:bp
164:bp
72:;
68::
64:;
60::
1437:.
1415::
1394:.
1372::
1364::
1322:.
1300::
1292::
1286:2
1261:.
1236:.
1222::
1195:.
1173::
1146:.
1124::
1116::
1086:.
997:)
993:(
842:)
836:(
831:)
827:(
823:.
809:.
93:)
76::
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