Myosin gene mutation correlates with anatomical changes in the human lineage

Nature

Volumn 428, Issue 6981, 2004, Pages 415-418

  Stedman, Hansell H ^a,b   Kozyak, Benjamin W ^a   Nelson, Anthony ^a   Thesier, Danielle M ^a   Su, Leonard T ^a   Low, David W ^a,c   Bridges, Charles R ^a   Shrager, Joseph B ^a,b   Minugh Purvis, Nancy ^a,c   Mitchell, Marilyn A ^a  

^a UNIVERSITY OF PENNSYLVANIA   (United States)

^b UNIVERSITY OF PENNSYLVANIA   (United States)

^c CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BIODIVERSITY; CORRELATION METHODS; MORPHOLOGY; MUSCLE; PROTEINS;

GENE MUTATIONS; MYOSIN;

GENES;

MYOSIN HEAVY CHAIN;

EVOLUTIONARY BIOLOGY; MUSCLE; PRIMATE;

ANATOMY; ANIMAL TISSUE; ARTICLE; CONTROLLED STUDY; CORRELATION ANALYSIS; DNA SEQUENCE; FOSSIL; FRAMESHIFT MUTATION; GENE EXPRESSION; GENE INACTIVATION; GENE MUTATION; GENETIC CODE; GENETIC LINKAGE; HUMAN; HUMAN TISSUE; MASTICATORY MUSCLE; MOLECULAR CLOCK; MUSCLE FIBER MEMBRANE CONDUCTANCE; NONHUMAN; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEOMICS; SPECIES COMPARISON;

AMINO ACID SEQUENCE; ANIMALS; BASE SEQUENCE; COMPUTATIONAL BIOLOGY; DOGS; EVOLUTION, MOLECULAR; EXONS; FOSSILS; FRAMESHIFT MUTATION; HISTORY, ANCIENT; HOMINIDAE; HUMANS; MACACA; MASTICATORY MUSCLES; MOLECULAR SEQUENCE DATA; MYOSIN HEAVY CHAINS; MYOSINS; PAN TROGLODYTES; PHYLOGENY; PONGO PYGMAEUS; SKULL; TIME FACTORS;

ANIMALIA; AUSTRALOPITHECUS; HOMINIDAE; HOMO; PAN (APE); PAN TROGLODYTES; PARANTHROPUS; PRIMATES; VERTEBRATA;

EID: 12144288568     PISSN: 00280836     EISSN: None     Source Type: Journal    
DOI: 10.1038/nature02358     Document Type: Article

References (30)

1. Rak, Y. The Australopithecine Face (Academic, New York, 1983).
2. Aiello, L. & Dean, C. An Introduction to Human Evolutionary Anatomy (Academic, New York, 1998).
3. White, T. D., Suwa, G., Simpson, S. & Asfaw, B. Jaws and teeth of Australopithecus afarensis from Maka, Middle Awash, Ethiopia. Am. J. Phys. Anthropol. 111, 45-68 (2000).
4. Tobias, P. V. The Skulls, Endocasts, and Teeth of Homo habilis (University Press, Cambridge, 1991).
5. Walker, A. & Leakey, R. (eds) The Nariokotome Homo erectus skeleton (Harvard Univ. Press, Cambridge, Massachusetts, 1993).
6. Vekua, A. et al. A new skull of early Homo from Dmanisi, Georgia. Science 297, 85-89 (2002).
7. Acakpo-Satchivi, L. et al. Growth and muscle defects in mice lacking adult myosin heavy chain genes. J. Cell Biol. 139, 1219-1229 (1997).
8. Allen, D. L., Harrison, B. C., Sartorius, C., Byrnes, W. C. & Leinwand, L. A. Mutation of the IIB myosin heavy chain gene results in muscle fiber loss and compensatory hypertrophy. Am. J. Physiol. Cell Physiol. 280, C637-C645 (2001).
9. Martinsson, T. et al. Autosomal dominant myopathy: missense mutation (Glu-706 → Lys) in the myosin heavy chain IIa gene. Proc. Natl Acad. Sci. USA 97, 14614-14619 (2000).
10. Korfage, J. A. & Van Eijden, T. M. Myosin heavy chain composition in human masticatory muscles by immunohistochemistry and gel electrophoresis. J. Histochem. Cytochem. 51, 113-119 (2003).
11. McPherron, A. C., Lawler, A. M. & Lee, S. J. Regulation of skeletal muscle mass in mice by a new TGF-β superfamily member. Nature 387, 83-90 (1997).
12. Hamrick, M. W., McPherron, A. C., Lovejoy, C. O. & Hudson, J. Femoral morphology and cross-sectional geometry of adult myostatin-deficient mice. Bone 27, 343-349 (2000).
13. Hohl, T. H. Masticatory muscle transposition in primates: effects on craniofacial growth. J. Maxillofac. Surg. 11, 149-156 (1983).
14. Brennan, M. & Antonyshyn, O. The effects of temporalis muscle manipulation on skull growth: an experimental study. Plast. Reconstr. Surg. 97, 13-24 (1996).
15. Warren, S. M., Brunet, L. J., Harland, R. M., Economides, A. N. & Longaker, M. T. The BMP antagonist noggin regulates cranial suture fusion. Nature 422, 625-629 (2003).
16. Messier, W. & Stewart, C. B. Episodic adaptive evolution of primate lysozymes. Nature 385, 151-154 (1997).
17. Chou, H. H. et al. Inactivation of CMP-N-acetylneuraminic acid hydroxylase occurred prior to brain expansion during human evolution. Proc. Natl Acad. Sci. USA 99, 11736-11741 (2002).
18. Brunet, M. et al. A new hominid from the Upper Miocene of Chad, Central Africa. Nature 418, 145-151 (2002).
19. Haile-Selassie, Y. Late Miocene hominids from the Middle Awash, Ethiopia. Nature 412, 178-181 (2001).
20. Leakey, M. G., Feibel, C. S., McDougall, I., Ward, C. & Walker, A. New specimens and confirmation of an early age for Australopithecus anamensis. Nature 393, 62-66 (1998).
21. Lockwood, C. A., Kimbel, W. H. & Johanson, D. C. Temporal trends and metric variation in the mandibles and dentition of Australopithecus afarensis. J. Hum. Evol. 39, 23-55 (2000).
22. Asfaw, B. et al. Australopithecus garhi: a new species of early hominid from Ethiopia. Science 284, 629-635 (1999).
23. Uyeda, T. Q. P., Ruppel, K. M. & Spudich, J. A. Enzymatic activities correlate with chimaeric substitutions at the actin-binding face of myosin. Nature 368, 567-569 (1994).
24. Desjardins, P., Burkman, J., Shrager, J., Allmond, L. & Stedman, H. Evolutionary implications of three novel members of the human sarcomeric myosin heavy chain gene family. Mol. Biol. Evol. 19, 375-393 (2002).
25. Swofford, D. PAUP*. Phylogenetic Analysis Using Parsimony (*and Other Methods) (Sinauer Associates, Sunderland, Massachusetts, 1998).
26. Yang, Z. PAML: a program package for phylogenetic analysis by maximum likelihood. CABIOS 13, 555-556 (1997).
27. Kumar, S., Tamura, K., Jakobsen, I. B. & Nei, M. MEGA2: molecular evolutionary genetics analysis software. Bioinformatics 17, 1244-1245 (2001).
28. Bamman, M. M., Clarke, M. S., Talmadge, R. J. & Feeback, D. L. Enhanced protein electrophoresis technique for separating human skeletal muscle myosin heavy chain isoforms. Electrophoresis 20, 466-468 (1999).
29. Levine, S., Kaiser, L., Leferovich, J. & Tikunov, B. Cellular adaptations in the diaphragm in chronic obstructive pulmonary disease. N. Engl. J. Med. 337, 1799-1806 (1997).
30. MacCoss, M. J., Wu, C. C. & Yates, J. R. Probability-based validation of protein identifications using a modified SEQUEST algorithm. Anal. Chem. 74, 5593-5599 (2002).