A Sonic hedgehog (Shh) response deficit in trisomic cells may be a common denominator for multiple features of Down syndrome.

摘要: The hedgehog (HH) family of growth factors is involved in many aspects and development, from the establishment left-right axes at gastrulation to patterning formation multiple structures essentially every tissue, maintenance regulation stem cell populations adults. Sonic (Shh) particular acts as a mitogen, regulating proliferation target cells, factor that triggers differentiation populations, morphogen causing cells respond differently based on their positions along spatial temporal concentration gradient. Given its very broad range effects it not surprising affected by disruption Shh signaling are also Down syndrome (DS). However, recent studies have shown trisomic cerebellar granule precursors deficit, compared euploid counterparts, response mitogenic Shh. This deficit substantially contributes hypocellular cerebellum mouse models parallels human DS phenotype can be corrected early development single exposure small-molecule agonist pathway. Here, we consider how an attenuated might affect several produce phenotypic outcomes observed DS.