Functional interactions between shox and hox genes during limb development

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Transcription factor proteins control gene expression during development in order to introduce pattern into the embryo. One such patterning process is the formation of the limbs (arms and legs) in the embryo. We now know that different transcription factors are necessary to develop specific segments of the limbs. For this reason, birth defects can result when the function of a transcription factor is missing. Because developmental pattering is similar in all mammals, we use limb development in the mouse as a model. For example, we have found that the mouse transcription factor Shox2 is necessary to form the proximal segment of the limbs (the humerus in the arms and the femur in the legs). Shox2 is closely related to the human SHOX protein, which is necessary for normal limb development in humans.