Myosin gene mutation correlates with anatomical changes in the human lineage
Powerful masticatory muscles are found in most primates, including chimpanzees and gorillas, and were part of a prominent adaptation of Australopithecus and Paranthropus , extinct genera of the family Hominidae 1 , 2 . In contrast, masticatory muscles are considerably smaller in both modern and foss...
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| Veröffentlicht in: | Nature 2004-03, Vol.428 (6981), p.415-418 |
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| creator | Stedman, Hansell H. Kozyak, Benjamin W. Nelson, Anthony Thesier, Danielle M. Su, Leonard T. Low, David W. Bridges, Charles R. Shrager, Joseph B. Minugh-Purvis, Nancy Mitchell, Marilyn A. |
| description | Powerful masticatory muscles are found in most primates, including chimpanzees and gorillas, and were part of a prominent adaptation of
Australopithecus
and
Paranthropus
, extinct genera of the family Hominidae
1
,
2
. In contrast, masticatory muscles are considerably smaller in both modern and fossil members of
Homo
. The evolving hominid masticatory apparatus—traceable to a Late Miocene, chimpanzee-like morphology
3
—shifted towards a pattern of gracilization nearly simultaneously with accelerated encephalization in early
Homo
4
. Here, we show that the gene encoding the predominant myosin heavy chain (
MYH
) expressed in these muscles was inactivated by a frameshifting mutation after the lineages leading to humans and chimpanzees diverged. Loss of this protein isoform is associated with marked size reductions in individual muscle fibres and entire masticatory muscles. Using the coding sequence for the myosin rod domains as a molecular clock, we estimate that this mutation appeared approximately 2.4 million years ago, predating the appearance of modern human body size
5
and emigration of
Homo
from Africa
6
. This represents the first proteomic distinction between humans and chimpanzees that can be correlated with a traceable anatomic imprint in the fossil record. |
| doi_str_mv | 10.1038/nature02358 |
| format | Article |
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Australopithecus
and
Paranthropus
, extinct genera of the family Hominidae
1
,
2
. In contrast, masticatory muscles are considerably smaller in both modern and fossil members of
Homo
. The evolving hominid masticatory apparatus—traceable to a Late Miocene, chimpanzee-like morphology
3
—shifted towards a pattern of gracilization nearly simultaneously with accelerated encephalization in early
Homo
4
. Here, we show that the gene encoding the predominant myosin heavy chain (
MYH
) expressed in these muscles was inactivated by a frameshifting mutation after the lineages leading to humans and chimpanzees diverged. Loss of this protein isoform is associated with marked size reductions in individual muscle fibres and entire masticatory muscles. Using the coding sequence for the myosin rod domains as a molecular clock, we estimate that this mutation appeared approximately 2.4 million years ago, predating the appearance of modern human body size
5
and emigration of
Homo
from Africa
6
. This represents the first proteomic distinction between humans and chimpanzees that can be correlated with a traceable anatomic imprint in the fossil record.</description><identifier>ISSN: 0028-0836</identifier><identifier>EISSN: 1476-4687</identifier><identifier>DOI: 10.1038/nature02358</identifier><identifier>PMID: 15042088</identifier><identifier>CODEN: NATUAS</identifier><language>eng</language><publisher>London: Nature Publishing Group UK</publisher><subject><![CDATA[Amino Acid Sequence ; Animals ; Base Sequence ; Computational Biology ; Dogs ; Earth sciences ; Earth, ocean, space ; Evolution, Molecular ; Exact sciences and technology ; Exons - genetics ; Fossils ; Frameshift Mutation - genetics ; History, Ancient ; Hominidae - anatomy & histology ; Hominidae - genetics ; Humanities and Social Sciences ; Humans ; letter ; Macaca - anatomy & histology ; Macaca - genetics ; Masticatory Muscles - anatomy & histology ; Molecular Sequence Data ; multidisciplinary ; MYH gene ; Myosin Heavy Chains - chemistry ; Myosin Heavy Chains - genetics ; Myosins - chemistry ; Myosins - genetics ; Paleontology ; Pan troglodytes - anatomy & histology ; Pan troglodytes - genetics ; Phylogeny ; Pongo pygmaeus - anatomy & histology ; Pongo pygmaeus - genetics ; Science ; Science (multidisciplinary) ; Skull - anatomy & histology ; Time Factors ; Vertebrate paleontology]]></subject><ispartof>Nature, 2004-03, Vol.428 (6981), p.415-418</ispartof><rights>Macmillan Magazines Ltd. 2004</rights><rights>2004 INIST-CNRS</rights><rights>COPYRIGHT 2004 Nature Publishing Group</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c559t-765b4688a029ce9bf7c4fc2275d9472c8bd9710cd240785943c82394ec977b513</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://link.springer.com/content/pdf/10.1038/nature02358$$EPDF$$P50$$Gspringer$$H</linktopdf><linktohtml>$$Uhttps://link.springer.com/10.1038/nature02358$$EHTML$$P50$$Gspringer$$H</linktohtml><link.rule.ids>314,776,780,27901,27902,41464,42533,51294</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=15637274$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/15042088$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Stedman, Hansell H.</creatorcontrib><creatorcontrib>Kozyak, Benjamin W.</creatorcontrib><creatorcontrib>Nelson, Anthony</creatorcontrib><creatorcontrib>Thesier, Danielle M.</creatorcontrib><creatorcontrib>Su, Leonard T.</creatorcontrib><creatorcontrib>Low, David W.</creatorcontrib><creatorcontrib>Bridges, Charles R.</creatorcontrib><creatorcontrib>Shrager, Joseph B.</creatorcontrib><creatorcontrib>Minugh-Purvis, Nancy</creatorcontrib><creatorcontrib>Mitchell, Marilyn A.</creatorcontrib><title>Myosin gene mutation correlates with anatomical changes in the human lineage</title><title>Nature</title><addtitle>Nature</addtitle><addtitle>Nature</addtitle><description>Powerful masticatory muscles are found in most primates, including chimpanzees and gorillas, and were part of a prominent adaptation of
Australopithecus
and
Paranthropus
, extinct genera of the family Hominidae
1
,
2
. In contrast, masticatory muscles are considerably smaller in both modern and fossil members of
Homo
. The evolving hominid masticatory apparatus—traceable to a Late Miocene, chimpanzee-like morphology
3
—shifted towards a pattern of gracilization nearly simultaneously with accelerated encephalization in early
Homo
4
. Here, we show that the gene encoding the predominant myosin heavy chain (
MYH
) expressed in these muscles was inactivated by a frameshifting mutation after the lineages leading to humans and chimpanzees diverged. Loss of this protein isoform is associated with marked size reductions in individual muscle fibres and entire masticatory muscles. Using the coding sequence for the myosin rod domains as a molecular clock, we estimate that this mutation appeared approximately 2.4 million years ago, predating the appearance of modern human body size
5
and emigration of
Homo
from Africa
6
. This represents the first proteomic distinction between humans and chimpanzees that can be correlated with a traceable anatomic imprint in the fossil record.</description><subject>Amino Acid Sequence</subject><subject>Animals</subject><subject>Base Sequence</subject><subject>Computational Biology</subject><subject>Dogs</subject><subject>Earth sciences</subject><subject>Earth, ocean, space</subject><subject>Evolution, Molecular</subject><subject>Exact sciences and technology</subject><subject>Exons - genetics</subject><subject>Fossils</subject><subject>Frameshift Mutation - genetics</subject><subject>History, Ancient</subject><subject>Hominidae - anatomy & histology</subject><subject>Hominidae - genetics</subject><subject>Humanities and Social Sciences</subject><subject>Humans</subject><subject>letter</subject><subject>Macaca - anatomy & histology</subject><subject>Macaca - genetics</subject><subject>Masticatory Muscles - anatomy & histology</subject><subject>Molecular Sequence Data</subject><subject>multidisciplinary</subject><subject>MYH gene</subject><subject>Myosin Heavy Chains - chemistry</subject><subject>Myosin Heavy Chains - genetics</subject><subject>Myosins - chemistry</subject><subject>Myosins - genetics</subject><subject>Paleontology</subject><subject>Pan troglodytes - anatomy & histology</subject><subject>Pan troglodytes - genetics</subject><subject>Phylogeny</subject><subject>Pongo pygmaeus - anatomy & histology</subject><subject>Pongo pygmaeus - genetics</subject><subject>Science</subject><subject>Science (multidisciplinary)</subject><subject>Skull - anatomy & histology</subject><subject>Time Factors</subject><subject>Vertebrate paleontology</subject><issn>0028-0836</issn><issn>1476-4687</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2004</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqF0s-L1DAUB_AgijuunrxLERREuyZp0iTHYfDHwqigKx5Lmr7OZGmT2SRF97834ww4CxXJIZB88l54fBF6SvAFwZV863SaAmBacXkPLQgTdclqKe6jBcZUllhW9Rl6FOM1xpgTwR6iM8Ixo1jKBVp_uvXRumIDDopxSjpZ7wrjQ4BBJ4jFT5u2hc49_GiNHgqz1W6Tz_ObtIViO43aFYN1oDfwGD3o9RDhyXE_R9_fv7tafSzXXz5crpbr0nCuUilq3uYfSo2pMqDaXhjWG0oF7xQT1Mi2U4Jg01GGheSKVUbSSjEwSoiWk-ocvTzU3QV_M0FMzWijgWHQDvwUG0FETXhd_RcSIZWSZA_LA9zoARrrep-CNvuhBD14B73Nx0si60oQ8qfw8xlvdvamOUUXMyivDvIsZ6u-uvMgmwS_0kZPMTaX377eta__bZdXP1afZ7UJPsYAfbMLdtThtiG42aeoOUlR1s-OY5vaEbq_9hibDF4cgY45FH3Qzth44nJfKlh2bw4u5qscm9Bc-ym4nI3Zvr8B0Fnasw</recordid><startdate>20040325</startdate><enddate>20040325</enddate><creator>Stedman, Hansell H.</creator><creator>Kozyak, Benjamin W.</creator><creator>Nelson, Anthony</creator><creator>Thesier, Danielle M.</creator><creator>Su, Leonard T.</creator><creator>Low, David W.</creator><creator>Bridges, Charles R.</creator><creator>Shrager, Joseph B.</creator><creator>Minugh-Purvis, Nancy</creator><creator>Mitchell, Marilyn A.</creator><general>Nature Publishing Group UK</general><general>Nature Publishing</general><general>Nature Publishing Group</general><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>ATWCN</scope><scope>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope></search><sort><creationdate>20040325</creationdate><title>Myosin gene mutation correlates with anatomical changes in the human lineage</title><author>Stedman, Hansell H. ; 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Australopithecus
and
Paranthropus
, extinct genera of the family Hominidae
1
,
2
. In contrast, masticatory muscles are considerably smaller in both modern and fossil members of
Homo
. The evolving hominid masticatory apparatus—traceable to a Late Miocene, chimpanzee-like morphology
3
—shifted towards a pattern of gracilization nearly simultaneously with accelerated encephalization in early
Homo
4
. Here, we show that the gene encoding the predominant myosin heavy chain (
MYH
) expressed in these muscles was inactivated by a frameshifting mutation after the lineages leading to humans and chimpanzees diverged. Loss of this protein isoform is associated with marked size reductions in individual muscle fibres and entire masticatory muscles. Using the coding sequence for the myosin rod domains as a molecular clock, we estimate that this mutation appeared approximately 2.4 million years ago, predating the appearance of modern human body size
5
and emigration of
Homo
from Africa
6
. This represents the first proteomic distinction between humans and chimpanzees that can be correlated with a traceable anatomic imprint in the fossil record.</abstract><cop>London</cop><pub>Nature Publishing Group UK</pub><pmid>15042088</pmid><doi>10.1038/nature02358</doi><tpages>4</tpages></addata></record> |
| fulltext | fulltext |
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| ispartof | Nature, 2004-03, Vol.428 (6981), p.415-418 |
| issn | 0028-0836 1476-4687 |
| language | eng |
| recordid | cdi_proquest_miscellaneous_71761563 |
| source | MEDLINE; SpringerLink Journals; Nature |
| subjects | Amino Acid Sequence Animals Base Sequence Computational Biology Dogs Earth sciences Earth, ocean, space Evolution, Molecular Exact sciences and technology Exons - genetics Fossils Frameshift Mutation - genetics History, Ancient Hominidae - anatomy & histology Hominidae - genetics Humanities and Social Sciences Humans letter Macaca - anatomy & histology Macaca - genetics Masticatory Muscles - anatomy & histology Molecular Sequence Data multidisciplinary MYH gene Myosin Heavy Chains - chemistry Myosin Heavy Chains - genetics Myosins - chemistry Myosins - genetics Paleontology Pan troglodytes - anatomy & histology Pan troglodytes - genetics Phylogeny Pongo pygmaeus - anatomy & histology Pongo pygmaeus - genetics Science Science (multidisciplinary) Skull - anatomy & histology Time Factors Vertebrate paleontology |
| title | Myosin gene mutation correlates with anatomical changes in the human lineage |
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