Desert hedgehog protein is a member of the Hedgehog family. The hedgehog gene family encodes signaling molecules that play an important role in regulating morphogenesis. This protein is predicted to be made as a precursor that is autocatalytically cleaved; the N-terminal portion is soluble and contains the signalling activity while the C-terminal portion is involved in precursor processing. More importantly, the C-terminal product covalently attaches a cholesterol moiety to the N-terminal product, restricting the N-terminal product to the cell surface and preventing it from freely diffusing throughout the organism.[3]
Clinical significance
Defects in this protein have been associated with partial gonadal dysgenesis (PGD) accompanied by minifascicular polyneuropathy. This protein may be involved in both male gonadal differentiation and perineurial development.[3]
References
↑Tate G, Satoh H, Endo Y, Mitsuya T (Jun 2000). "Assignment of desert hedgehog (DHH) to human chromosome bands 12q12→q13.1 by in situ hybridization". Cytogenet Cell Genet. 88 (1–2): 93–4. doi:10.1159/000015495. PMID10773676.
↑Kamisago M, Kimura M, Furutani Y, Furutani M, Takao A, Momma K, Matsuoka R (May 2000). "Assignment of human desert hedgehog gene (DHH) to chromosome band 12q13.1 by in situ hybridization". Cytogenet Cell Genet. 87 (1–2): 117–8. doi:10.1159/000015376. PMID10640830.
Umehara F, Tate G, Itoh K, Osame M (2002). "Minifascicular neuropathy: a new concept of the human disease caused by desert hedgehog gene mutation". Cell. Mol. Biol. (Noisy-le-grand). 48 (2): 187–9. PMID11990454.
Echelard Y, Epstein DJ, St-Jacques B, et al. (1994). "Sonic hedgehog, a member of a family of putative signaling molecules, is implicated in the regulation of CNS polarity". Cell. 75 (7): 1417–30. doi:10.1016/0092-8674(93)90627-3. PMID7916661.
Bitgood MJ, Shen L, McMahon AP (1997). "Sertoli cell signaling by Desert hedgehog regulates the male germline". Curr. Biol. 6 (3): 298–304. doi:10.1016/S0960-9822(02)00480-3. PMID8805249.
Bak M, Hansen C, Friis Henriksen K, Tommerup N (2001). "The human hedgehog-interacting protein gene: structure and chromosome mapping to 4q31.21→q31.3". Cytogenet. Cell Genet. 92 (3–4): 300–3. doi:10.1159/000056918. PMID11435703.
