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Sökning: WFRF:(Sabeti Pardis C.) > The functional and ...

LIBRIS Formathandbok  (Information om MARC21)
FältnamnIndikatorerMetadata
00005207naa a2200517 4500
001oai:DiVA.org:uu-505570
003SwePub
008230622s2023 | |||||||||||000 ||eng|
0247 a https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-5055702 URI
0247 a https://doi.org/10.1126/science.abn22532 DOI
040 a (SwePub)uu
041 a engb eng
042 9 SwePub
072 7a ref2 swepub-contenttype
072 7a art2 swepub-publicationtype
1001 a Xue, James R.u Broad Inst MIT & Harvard, Cambridge, MA 02142 USA.;Harvard Univ, Ctr Syst Biol, Dept Organism & Evolutionary Biol, Cambridge, MA 02138 USA.4 aut
2451 0a The functional and evolutionary impacts of human-specific deletions in conserved elements
264 1b American Association for the Advancement of Science (AAAS),c 2023
338 a print2 rdacarrier
520 a Conserved genomic sequences disrupted in humans may underlie uniquely human phenotypic traits. We identified and characterized 10,032 human-specific conserved deletions (hCONDELs). These short (average 2.56 base pairs) deletions are enriched for human brain functions across genetic, epigenomic, and transcriptomic datasets. Using massively parallel reporter assays in six cell types, we discovered 800 hCONDELs conferring significant differences in regulatory activity, half of which enhance rather than disrupt regulatory function. We highlight several hCONDELs with putative human-specific effects on brain development, including HDAC5, CPEB4, and PPP2CA. Reverting an hCONDEL to the ancestral sequence alters the expression of LOXL2 and developmental genes involved in myelination and synaptic function. Our data provide a rich resource to investigate the evolutionary mechanisms driving new traits in humans and other species.
650 7a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Medicinsk genetik0 (SwePub)301072 hsv//swe
650 7a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Medical Genetics0 (SwePub)301072 hsv//eng
650 7a NATURVETENSKAPx Biologix Genetik0 (SwePub)106092 hsv//swe
650 7a NATURAL SCIENCESx Biological Sciencesx Genetics0 (SwePub)106092 hsv//eng
650 7a NATURVETENSKAPx Biologix Utvecklingsbiologi0 (SwePub)106142 hsv//swe
650 7a NATURAL SCIENCESx Biological Sciencesx Developmental Biology0 (SwePub)106142 hsv//eng
7001 a Mackay-Smith, Avau Yale Sch Med, Dept Genet, New Haven, CT 06510 USA.4 aut
7001 a Mouri, Kousukeu Jackson Lab, Bar Harbor, ME USA.4 aut
7001 a Garcia, Meilin Fernandezu Yale Univ, Dept Psychiat, New Haven, CT USA.4 aut
7001 a Dong, Michael X.u Uppsala universitet,Institutionen för medicinsk biokemi och mikrobiologi,Science for Life Laboratory, SciLifeLab4 aut0 (Swepub:uu)micdo164
7001 a Akers, Jared F.u Yale Sch Med, Dept Genet, New Haven, CT 06510 USA.4 aut
7001 a Noble, Marku Yale Sch Med, Dept Genet, New Haven, CT 06510 USA.4 aut
7001 a Li, Xueu Broad Inst MIT & Harvard, Cambridge, MA 02142 USA.;UMass Chan Med Sch, Program Bioinformat & Integrat Biol, Worcester, MA USA.;UMass Chan Med Sch, Program Mol Med, Worcester, MA USA.4 aut
7001 a Lindblad-Toh, Kerstinu Uppsala universitet,Institutionen för medicinsk biokemi och mikrobiologi,Science for Life Laboratory, SciLifeLab,Broad Inst MIT & Harvard, Cambridge, MA 02142 USA.4 aut0 (Swepub:uu)kerli865
7001 a Karlsson, Elinor K.u Broad Inst MIT & Harvard, Cambridge, MA 02142 USA.;UMass Chan Med Sch, Program Bioinformat & Integrat Biol, Worcester, MA USA.;UMass Chan Med Sch, Program Mol Med, Worcester, MA USA.4 aut
7001 a Noonan, James P.u Yale Sch Med, Dept Genet, New Haven, CT 06510 USA.;Yale Sch Med, Dept Neurosci, New Haven, CT USA.;Yale Univ, Dept Ecol & Evolutionary Biol, New Haven, CT USA.4 aut
7001 a Capellini, Terence D.u Broad Inst MIT & Harvard, Cambridge, MA 02142 USA.;Harvard Univ, Human Evolutionary Biol, Cambridge, MA USA.4 aut
7001 a Brennand, Kristen J.u Yale Sch Med, Dept Genet, New Haven, CT 06510 USA.;Yale Univ, Dept Psychiat, New Haven, CT USA.4 aut
7001 a Tewhey, Ryanu Jackson Lab, Bar Harbor, ME USA.;Univ Maine, Grad Sch Biomed Sci & Engn, Orono, ME USA.;Tufts Univ, Grad Sch Biomed Sci, Sch Med, Boston, MA USA.4 aut
7001 a Sabeti, Pardis C.u Broad Inst MIT & Harvard, Cambridge, MA 02142 USA.;Harvard Univ, Ctr Syst Biol, Dept Organism & Evolutionary Biol, Cambridge, MA 02138 USA.;Howard Hughes Med Inst, Chevy Chase, MD USA.;Harvard TH Chan Sch Publ Hlth, Dept Immunol & Infect Dis, Boston, MA USA.4 aut
7001 a Reilly, Steven K.u Yale Sch Med, Dept Genet, New Haven, CT 06510 USA.4 aut
7001 a Consortium, Zoonomia4 aut
7102 a Broad Inst MIT & Harvard, Cambridge, MA 02142 USA.;Harvard Univ, Ctr Syst Biol, Dept Organism & Evolutionary Biol, Cambridge, MA 02138 USA.b Yale Sch Med, Dept Genet, New Haven, CT 06510 USA.4 org
7730 t Scienced : American Association for the Advancement of Science (AAAS)g 380:6643q 380:6643x 0036-8075x 1095-9203
8564 8u https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-505570
8564 8u https://doi.org/10.1126/science.abn2253

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