Premium
Comparative anatomy of mammalian and primate facial muscles and evolutionary genetics of atavistic muscles in humans with trisomy
Author(s) -
Ziermann Janine,
Diogo Rui,
Bhatia Naina
Publication year - 2013
Publication title -
the faseb journal
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.709
H-Index - 277
eISSN - 1530-6860
pISSN - 0892-6638
DOI - 10.1096/fasebj.27.1_supplement.192.1
Subject(s) - context (archaeology) , biology , trisomy , comparative anatomy , primate , anatomy , facial muscles , evolutionary biology , genetics , neuroscience , paleontology
Previous studies have suggested that modern humans with genetic disorders such as trisomy (e.g., 13, 18 and 21) have several muscular abnormalities and ‘atavisms’. We have explored the comparative and ontogenetic context of these abnormalities by examining a wide range of primates and other mammals, and our comparative studies suggest that actually only a few of the reported muscular abnormalities represent true evolutionary ‘atavisms’, e.g., the presence of contrahentes in the hand, and of the facial muscle platysma cervicale. Interestingly, in karyotypically ‘normal’ modern humans these muscles are also present early in ontogeny but then usually disappear before birth. This suggests that at least some of the muscular ‘atavisms’ in trisomic individuals are the result of delayed/arrested development. Our contribution investigates the evolutionary and phylogenetic context of these muscular abnormalities and includes new data about anatomical and genetic studies of mice models for Down Syndrome (trisomy 21) that provide crucial information for a better understanding of human medicine, anomalies, variations, and evolutionary history.