The Big Jaw - SJSU Computer Science Departmentkhuri/AUA_2016/AUA_2016_CASE_STUDY_Jaw.pdf · The Big...
Transcript of The Big Jaw - SJSU Computer Science Departmentkhuri/AUA_2016/AUA_2016_CASE_STUDY_Jaw.pdf · The Big...
1 ©2016 Sami Khuri
June 2016 American University of Armenia Introduction to Bioinformatics
©2016 Sami Khuri
The Big Jaw Case Study
Introduction to Bioinformatics Sami Khuri
Department of Computer Science San José State University San José, California, USA
[email protected] www.cs.sjsu.edu/faculty/khuri
Myosin gene mutation correlates with anatomical
changes in the human lineage by Hansell H. Stedman et al.
NATURE: VOL 428, 25 MARCH 2004
©2016 Sami Khuri
5 4 3 2 1 0 Millions of Years Ago
Ardipithecus ramidus
A. boisei
A. africanus
Australopithecus afarensis
A. robustus
Homo habilis
H. erectus
H. heidel- bergensis
H. neander- thalensis
Homo ergaster
H. sapiens A Possible Evolution Tree For Humans
Mutation lifted a constraint that inhibited brain growth
©2016 Sami Khuri
Powerful Masticatory Muscles • Powerful masticatory muscles are found in
most primates, including chimpanzees and gorillas, and also in Australopithecus.
• Masticatory muscles are considerably smaller in members of Homo.
• The gene encoding myosin heavy chain (MYH) expressed in these muscles was inactivated by a frameshifting mutation after the lineages leading to humans and chimpanzees diverged.
©2016 Sami Khuri
A decrease in jaw-muscle size, produced by inactivation of MYH16, removed a barrier to the remodelling of the hominid cranium which consequently allowed an increase in the size of the brain.
©2016 Sami Khuri ©2016 Sami Khuri
2 ©2016 Sami Khuri
June 2016 American University of Armenia Introduction to Bioinformatics
©2016 Sami Khuri
MYH16: Myosin Heavy Gene Accession Number: BK001410 at NCBI (exon 19)
©2016 Sami Khuri
©2016 Sami Khuri ©2016 Sami Khuri