
Rijli FM, Mark M, Lakkaraju S, Dierich A, Dolle P, Chambon P:
A homeotic transformation is generated in the rostral branchial
region of the head by disruption of Hoxa-2, which acts as a selector
gene.
Cell 1993 Dec 31;75(7):1333-49
ABSTRACT
The Hoxa-2 gene was disrupted by homologous recombination.
Homozygous mutant mice died at birth. Defects were found in the
branchial region of the head, which corresponds to the Hoxa-2
rostral expression domain. While rhombomeric and neural crest cell
(NCC) segmentation was not affected, mesenchymal NCC derivatives of
the second arch were lacking, and second arch mesenchymal NCC
identity was changed to first arch identity, resulting in homeotic
transformation of second to first arch skeletal elements. These
results reveal the existence of a skeletogenic ground pattern
program common to at least the mesenchymal NCC that originated from
rhombomeres 2 and 4. The appearance of an atavistic reptilian
pterygoquadrate element in Hoxa-2 mutants suggests that this ground
pattern is intermediate between reptiles and mammals. The ground
pattern program appears to be modified in the mouse first arch by a
Hox-independent process, whereas Hoxa-2 acts as a selector gene in
the second arch.