About a dozen human chromosomal loci are associated with HPE (1), and mutations in HPE3 affect the human Sonic hedgehog (SHH) gene (4, 5). Mutations in SHH account for a significant proportion of autosomal dominant HPE. It has been implicated as the key inductive signal in patterning of the ventral neural tube, the anterior-posterior limb axis, and the ventral somites. Humans (人間 Ningen) are creatures in the Sonic the Hedgehog series. The hedgehog signaling pathway is conserved across many animal taxa, or phyla, from Drosophila to humans. Roessler E(1), Belloni E, Gaudenz K, Jay P, Berta P, Scherer SW, Tsui LC, Muenke M. Author information: (1)Children's Hospital of Philadelphia, Division of Human Genetics and Molecular Biology, Pennsylvania, USA. with a single gene mutation. The hedgehog signaling pathway controls several key components of embryonic development, stem-cell maintenance, and it influences the development of some cancers. Embryogenesis is regulated by a number of complex signaling cascades, which are critical for normal development. Mutations in the human Sonic Hedgehog gene cause holoprosencephaly. The consequences of a mutation in the SHH gene in humans … One such pathway begins with a secreted protein called “SONIC HEDGEHOG” (SHH [MIM 600725]), which sets off a chain of events in target cells, leading to the activation and repression of target genes by transcription factors in the Gli family. 13 Although sporadic forms of HPE are more frequent than familial forms, SHH mutations have been identified more frequently in familial (autosomal dominant) HPE than sporadic HPE. HPE3 on chromosome 7q36 is one of at least four different loci implicated in HPE. Human gene function appears to be haploinsufficient, but the HPE phenotype associated with heterozygous mutations … This gene encodes a protein that is instrumental in patterning the early embryo. Of three human proteins showing sequence and functional similarity to the sonic hedgehog protein of Drosophila, this protein is the most similar. One of them was dubbed sonic hedgehog, which I think passes as a joke in scientific circles. They are a sentient species and the most dominant beings on the earth.