Health Dictionary
Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
Desert hedgehog protein
Introduction
Desert hedgehog protein is a protein that in humans is encoded by the DHH gene.[1][2][3]
Function
Function
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
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
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. PMID 10773676.
- ↑ 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. PMID 10640830.
- ↑ 3.0 3.1 3.2 “Entrez Gene: DHH desert hedgehog homolog (Drosophila)”.
Further reading
Further reading
- Matsui Y (1998). “Regulation of germ cell death in mammalian gonads”. APMIS. 106 (1): 142–7, discussion 147–8. doi:10.1111/j.1699-0463.1998.tb01329.x. PMID 9524572.
- 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. PMID 11990454.
- 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. PMID 7916661.
- 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. PMID 8805249.
- Carpenter D, Stone DM, Brush J, et al. (1998). “Characterization of two patched receptors for the vertebrate hedgehog protein family”. Proc. Natl. Acad. Sci. U.S.A. 95 (23): 13630–4. doi:10.1073/pnas.95.23.13630. PMC 24870. PMID 9811851.
- Chuang PT, McMahon AP (1999). “Vertebrate Hedgehog signalling modulated by induction of a Hedgehog-binding protein”. Nature. 397 (6720): 617–21. doi:10.1038/17611. PMID 10050855.
- Umehara F, Tate G, Itoh K, et al. (2000). “A novel mutation of desert hedgehog in a patient with 46,XY partial gonadal dysgenesis accompanied by minifascicular neuropathy”. Am. J. Hum. Genet. 67 (5): 1302–5. doi:10.1016/S0002-9297(07)62958-9. PMC 1288570. PMID 11017805.
- 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. PMID 11435703.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2003). “Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences”. Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
- Gerhard DS, Wagner L, Feingold EA, et al. (2004). “The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)”. Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
- Hori Y, Gu X, Xie X, Kim SK (2006). “Differentiation of insulin-producing cells from human neural progenitor cells”. PLoS Med. 2 (4): e103. doi:10.1371/journal.pmed.0020103. PMC 1087208. PMID 15839736.
- Canto P, Vilchis F, Söderlund D, et al. (2006). “A heterozygous mutation in the desert hedgehog gene in patients with mixed gonadal dysgenesis”. Mol. Hum. Reprod. 11 (11): 833–6. doi:10.1093/molehr/gah216. PMID 16390857.