Neandertal Introgression Sheds Light on Modern Human Endocranial Globularity.
Neandertal
basal ganglia
brain shape
cerebellum
evolution
gene expression
genetic association
homo sapiens
magnetic resonance imaging
myelination
Journal
Current biology : CB
ISSN: 1879-0445
Titre abrégé: Curr Biol
Pays: England
ID NLM: 9107782
Informations de publication
Date de publication:
07 01 2019
07 01 2019
Historique:
received:
14
06
2018
revised:
21
09
2018
accepted:
31
10
2018
pubmed:
18
12
2018
medline:
24
1
2020
entrez:
18
12
2018
Statut:
ppublish
Résumé
One of the features that distinguishes modern humans from our extinct relatives and ancestors is a globular shape of the braincase [1-4]. As the endocranium closely mirrors the outer shape of the brain, these differences might reflect altered neural architecture [4, 5]. However, in the absence of fossil brain tissue, the underlying neuroanatomical changes as well as their genetic bases remain elusive. To better understand the biological foundations of modern human endocranial shape, we turn to our closest extinct relatives: the Neandertals. Interbreeding between modern humans and Neandertals has resulted in introgressed fragments of Neandertal DNA in the genomes of present-day non-Africans [6, 7]. Based on shape analyses of fossil skull endocasts, we derive a measure of endocranial globularity from structural MRI scans of thousands of modern humans and study the effects of introgressed fragments of Neandertal DNA on this phenotype. We find that Neandertal alleles on chromosomes 1 and 18 are associated with reduced endocranial globularity. These alleles influence expression of two nearby genes, UBR4 and PHLPP1, which are involved in neurogenesis and myelination, respectively. Our findings show how integration of fossil skull data with archaic genomics and neuroimaging can suggest developmental mechanisms that may contribute to the unique modern human endocranial shape.
Identifiants
pubmed: 30554901
pii: S0960-9822(18)31470-2
doi: 10.1016/j.cub.2018.10.065
pmc: PMC6380688
mid: NIHMS1516532
pii:
doi:
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
120-127.e5Subventions
Organisme : NCRR NIH HHS
ID : U24 RR021992
Pays : United States
Organisme : NCRR NIH HHS
ID : U24 RR025736
Pays : United States
Organisme : NIBIB NIH HHS
ID : U54 EB020403
Pays : United States
Organisme : NCATS NIH HHS
ID : UL1 TR001414
Pays : United States
Commentaires et corrections
Type : CommentIn
Type : ErratumIn
Type : CommentIn
Informations de copyright
Copyright © 2018 The Authors. Published by Elsevier Ltd.. All rights reserved.
Références
Int J Epidemiol. 2011 Apr;40(2):294-307
pubmed: 20167617
Mol Cell. 2005 Apr 1;18(1):13-24
pubmed: 15808505
Nature. 2014 Mar 20;507(7492):354-7
pubmed: 24476815
Neuroimage. 2002 Jan;15(1):273-89
pubmed: 11771995
Nature. 2014 Jan 2;505(7481):43-9
pubmed: 24352235
Philos Trans R Soc Lond B Biol Sci. 2012 Aug 5;367(1599):2097-107
pubmed: 22734053
Trends Ecol Evol. 2018 Aug;33(8):582-594
pubmed: 30007846
Nature. 2017 Oct 11;550(7675):204-213
pubmed: 29022597
Curr Opin Neurobiol. 2011 Jun;21(3):415-24
pubmed: 21592779
Nature. 2015 Oct 1;526(7571):68-74
pubmed: 26432245
Am J Hum Genet. 2007 Sep;81(3):559-75
pubmed: 17701901
Cerebellum. 2012 Jun;11(2):366-83
pubmed: 21671065
Science. 2014 Feb 28;343(6174):1017-21
pubmed: 24476670
Nat Neurosci. 2016 Mar;19(3):420-431
pubmed: 26854805
Hum Brain Mapp. 2014 Jul;35(7):3277-89
pubmed: 24827550
J Hum Evol. 2010 Nov;59(5):555-66
pubmed: 20727571
J Hum Evol. 2009 Jul;57(1):48-62
pubmed: 19482335
Nature. 2017 Jun 7;546(7657):289-292
pubmed: 28593953
Biomed Res Int. 2017;2017:7082696
pubmed: 29259984
Cell Mol Life Sci. 2015 Mar;72(6):1149-60
pubmed: 25424645
Science. 2018 Jun 15;360(6394):1222-1227
pubmed: 29853553
Science. 2016 Feb 12;351(6274):737-41
pubmed: 26912863
Proc Natl Acad Sci U S A. 2002 Feb 5;99(3):1134-9
pubmed: 11805284
Neuroimage. 2000 Jun;11(6 Pt 1):805-21
pubmed: 10860804
Proc Natl Acad Sci U S A. 2003 Dec 23;100(26):15335-40
pubmed: 14673084
Glia. 2018 Apr;66(4):693-707
pubmed: 29210103
Sci Rep. 2018 Apr 26;8(1):6296
pubmed: 29700382
Brain Res Brain Res Rev. 2000 Mar;31(2-3):236-50
pubmed: 10719151
Biol Open. 2014 May 08;3(6):475-85
pubmed: 24812355
Sci Rep. 2017 Jul 24;7(1):6308
pubmed: 28740249
Mol Cell. 2007 Mar 23;25(6):917-31
pubmed: 17386267
J Neurosci. 2008 Jul 9;28(28):7174-83
pubmed: 18614687
Curr Biol. 2014 Oct 20;24(20):2440-4
pubmed: 25283776
Am J Hum Genet. 2017 Oct 5;101(4):578-589
pubmed: 28985494
Nature. 2016 Aug 17;536(7616):285-91
pubmed: 27535533
PLoS Genet. 2009 Jun;5(6):e1000529
pubmed: 19543373
Hum Genet. 2012 May;131(5):747-56
pubmed: 22143225
Bioinformatics. 2015 Mar 1;31(5):782-4
pubmed: 25338720
Psychiatry Res. 2014 Apr 30;222(1-2):10-6
pubmed: 24650452
Nat Commun. 2017 Jan 18;8:13624
pubmed: 28098162
Science. 2016 Apr 8;352(6282):235-9
pubmed: 26989198
Cell. 2014 Mar 27;157(1):216-26
pubmed: 24679537
Bioinformatics. 2010 Sep 1;26(17):2190-1
pubmed: 20616382
Curr Biol. 2010 Nov 9;20(21):R921-2
pubmed: 21056830
Science. 2017 Nov 3;358(6363):655-658
pubmed: 28982794
Science. 2010 May 7;328(5979):710-722
pubmed: 20448178
Sci Adv. 2018 Jan 24;4(1):eaao5961
pubmed: 29376123
J Hum Evol. 2004 Nov;47(5):279-303
pubmed: 15530349
Psychon Bull Rev. 2017 Feb;24(1):34-40
pubmed: 27432000
Nature. 2015 Apr 9;520(7546):224-9
pubmed: 25607358
Nat Commun. 2017 Oct 20;8(1):1052
pubmed: 29051493
Genome Biol. 2017 Apr 3;18(1):61
pubmed: 28366169
Nature. 2016 Feb 25;530(7591):429-33
pubmed: 26886800
Curr Biol. 2016 Jul 25;26(14):R665-6
pubmed: 27458909