Neural crest origins of the neck and shoulder

Toshiyuki Matsuoka, Per E. Ahlberg, Nicoletta Kessaris, Palma Iannarelli, Ulla Dennehy, William D. Richardson, Andrew P. McMahon and Georgy Koentges ()
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Toshiyuki Matsuoka: Wolfson Institute for Biomedical Research
Per E. Ahlberg: Uppsala University
Nicoletta Kessaris: Wolfson Institute for Biomedical Research
Palma Iannarelli: Wolfson Institute for Biomedical Research
Ulla Dennehy: Wolfson Institute for Biomedical Research
William D. Richardson: Wolfson Institute for Biomedical Research
Andrew P. McMahon: Harvard University
Georgy Koentges: Wolfson Institute for Biomedical Research

Nature, 2005, vol. 436, issue 7049, 347-355

Abstract: Abstract The neck and shoulder region of vertebrates has undergone a complex evolutionary history. To identify its underlying mechanisms we map the destinations of embryonic neural crest and mesodermal stem cells using Cre-recombinase-mediated transgenesis. The single-cell resolution of this genetic labelling reveals cryptic cell boundaries traversing the seemingly homogeneous skeleton of the neck and shoulders. Within this assembly of bones and muscles we discern a precise code of connectivity that mesenchymal stem cells of both neural crest and mesodermal origin obey as they form muscle scaffolds. The neural crest anchors the head onto the anterior lining of the shoulder girdle, while a Hox-gene-controlled mesoderm links trunk muscles to the posterior neck and shoulder skeleton. The skeleton that we identify as neural crest-derived is specifically affected in human Klippel–Feil syndrome, Sprengel's deformity and Arnold–Chiari I/II malformation, providing insights into their likely aetiology. We identify genes involved in the cellular modularity of the neck and shoulder skeleton and propose a new method for determining skeletal homologies that is based on muscle attachments. This has allowed us to trace the whereabouts of the cleithrum, the major shoulder bone of extinct land vertebrate ancestors, which seems to survive as the scapular spine in living mammals.

Date: 2005
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DOI: 10.1038/nature03837

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