Loss of α-actinin-3 during human evolution provides superior cold resilience and muscle heat generation
The protein α-actinin-3 expressed in fast-twitch skeletal muscle fiber is absent in 1.5 billion people worldwide due to homozygosity for a nonsense polymorphism in ACTN3 (R577X). The prevalence of the 577X allele increased as modern humans moved to colder climates, suggesting a link between α-actini...
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| Veröffentlicht in: | American journal of human genetics 2021-03, Vol.108 (3), p.446-457 |
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| creator | Wyckelsma, Victoria L. Venckunas, Tomas Houweling, Peter J. Schlittler, Maja Lauschke, Volker M. Tiong, Chrystal F. Wood, Harrison D. Ivarsson, Niklas Paulauskas, Henrikas Eimantas, Nerijus Andersson, Daniel C. North, Kathryn N. Brazaitis, Marius Westerblad, Håkan |
| description | The protein α-actinin-3 expressed in fast-twitch skeletal muscle fiber is absent in 1.5 billion people worldwide due to homozygosity for a nonsense polymorphism in ACTN3 (R577X). The prevalence of the 577X allele increased as modern humans moved to colder climates, suggesting a link between α-actinin-3 deficiency and improved cold tolerance. Here, we show that humans lacking α-actinin-3 (XX) are superior in maintaining core body temperature during cold-water immersion due to changes in skeletal muscle thermogenesis. Muscles of XX individuals displayed a shift toward more slow-twitch isoforms of myosin heavy chain (MyHC) and sarcoplasmic reticulum (SR) proteins, accompanied by altered neuronal muscle activation resulting in increased tone rather than overt shivering. Experiments on Actn3 knockout mice showed no alterations in brown adipose tissue (BAT) properties that could explain the improved cold tolerance in XX individuals. Thus, this study provides a mechanism for the positive selection of the ACTN3 X-allele in cold climates and supports a key thermogenic role of skeletal muscle during cold exposure in humans. |
| doi_str_mv | 10.1016/j.ajhg.2021.01.013 |
| format | Article |
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The prevalence of the 577X allele increased as modern humans moved to colder climates, suggesting a link between α-actinin-3 deficiency and improved cold tolerance. Here, we show that humans lacking α-actinin-3 (XX) are superior in maintaining core body temperature during cold-water immersion due to changes in skeletal muscle thermogenesis. Muscles of XX individuals displayed a shift toward more slow-twitch isoforms of myosin heavy chain (MyHC) and sarcoplasmic reticulum (SR) proteins, accompanied by altered neuronal muscle activation resulting in increased tone rather than overt shivering. Experiments on Actn3 knockout mice showed no alterations in brown adipose tissue (BAT) properties that could explain the improved cold tolerance in XX individuals. Thus, this study provides a mechanism for the positive selection of the ACTN3 X-allele in cold climates and supports a key thermogenic role of skeletal muscle during cold exposure in humans.</description><identifier>ISSN: 0002-9297</identifier><identifier>ISSN: 1537-6605</identifier><identifier>EISSN: 1537-6605</identifier><identifier>DOI: 10.1016/j.ajhg.2021.01.013</identifier><identifier>PMID: 33600773</identifier><language>eng</language><publisher>CAMBRIDGE: Elsevier Inc</publisher><subject>Actinin - genetics ; Adipose Tissue, Brown - metabolism ; alpha-actinin-3 deficincy ; Animals ; Body Temperature - genetics ; brown adipose tissue ; Codon, Nonsense - genetics ; energy efficient thermogenesis ; Evolution, Molecular ; evolutionary advantage ; Genetics & Heredity ; Humans ; improved cold tolerance ; Life Sciences & Biomedicine ; Male ; Medicin och hälsovetenskap ; Mice ; Mice, Knockout ; muscle fiber type ; Muscle, Skeletal - metabolism ; Science & Technology ; Selection, Genetic - genetics ; skeletal muscle ; Thermogenesis - genetics</subject><ispartof>American journal of human genetics, 2021-03, Vol.108 (3), p.446-457</ispartof><rights>2021 The Author(s)</rights><rights>Copyright © 2021 The Author(s). Published by Elsevier Inc. All rights reserved.</rights><rights>2021 The Author(s) 2021</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>true</woscitedreferencessubscribed><woscitedreferencescount>24</woscitedreferencescount><woscitedreferencesoriginalsourcerecordid>wos000629143200011</woscitedreferencesoriginalsourcerecordid><citedby>FETCH-LOGICAL-c543t-6800227290f0b124df73bc9d498c99f8db439acebd80ab829d97870b77d6b6983</citedby><cites>FETCH-LOGICAL-c543t-6800227290f0b124df73bc9d498c99f8db439acebd80ab829d97870b77d6b6983</cites><orcidid>0000-0001-6132-2554 ; 0000-0003-1369-7524 ; 0000-0003-0841-8009 ; 0000-0001-7183-617X ; 0000-0001-6921-4638 ; 0000-0002-3830-657X ; 0000-0003-4548-702X ; 0000-0002-3886-9612 ; 0000-0002-8180-3029 ; 0000-0002-1956-6616 ; 0000-0003-3374-6223 ; 0000-0002-1140-6204 ; 0000-0003-0955-2090</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC8008486/pdf/$$EPDF$$P50$$Gpubmedcentral$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://dx.doi.org/10.1016/j.ajhg.2021.01.013$$EHTML$$P50$$Gelsevier$$Hfree_for_read</linktohtml><link.rule.ids>230,315,553,728,781,785,886,3551,27929,27930,39263,46000,53796,53798</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/33600773$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink><backlink>$$Uhttp://kipublications.ki.se/Default.aspx?queryparsed=id:146322595$$DView record from Swedish Publication Index$$Hfree_for_read</backlink></links><search><creatorcontrib>Wyckelsma, Victoria L.</creatorcontrib><creatorcontrib>Venckunas, Tomas</creatorcontrib><creatorcontrib>Houweling, Peter J.</creatorcontrib><creatorcontrib>Schlittler, Maja</creatorcontrib><creatorcontrib>Lauschke, Volker M.</creatorcontrib><creatorcontrib>Tiong, Chrystal F.</creatorcontrib><creatorcontrib>Wood, Harrison D.</creatorcontrib><creatorcontrib>Ivarsson, Niklas</creatorcontrib><creatorcontrib>Paulauskas, Henrikas</creatorcontrib><creatorcontrib>Eimantas, Nerijus</creatorcontrib><creatorcontrib>Andersson, Daniel C.</creatorcontrib><creatorcontrib>North, Kathryn N.</creatorcontrib><creatorcontrib>Brazaitis, Marius</creatorcontrib><creatorcontrib>Westerblad, Håkan</creatorcontrib><title>Loss of α-actinin-3 during human evolution provides superior cold resilience and muscle heat generation</title><title>American journal of human genetics</title><addtitle>AM J HUM GENET</addtitle><addtitle>Am J Hum Genet</addtitle><description>The protein α-actinin-3 expressed in fast-twitch skeletal muscle fiber is absent in 1.5 billion people worldwide due to homozygosity for a nonsense polymorphism in ACTN3 (R577X). 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| subjects | Actinin - genetics Adipose Tissue, Brown - metabolism alpha-actinin-3 deficincy Animals Body Temperature - genetics brown adipose tissue Codon, Nonsense - genetics energy efficient thermogenesis Evolution, Molecular evolutionary advantage Genetics & Heredity Humans improved cold tolerance Life Sciences & Biomedicine Male Medicin och hälsovetenskap Mice Mice, Knockout muscle fiber type Muscle, Skeletal - metabolism Science & Technology Selection, Genetic - genetics skeletal muscle Thermogenesis - genetics |
| title | Loss of α-actinin-3 during human evolution provides superior cold resilience and muscle heat generation |
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