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Gene Review

DHH  -  desert hedgehog

Homo sapiens

Synonyms: Desert hedgehog protein, GDXYM, HHG-3, MGC35145, SRXY7
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Disease relevance of DHH

  • Comparing previously described mutations in DHH to the one observed in this study, we can affirm that the phenotypic spectrum of patients with gonadal dysgenesis due to mutations in DHH is variable [1].
  • Mutated individuals displayed 46,XY complete PGD, differentiating from the only previously described patient with a homozygous DHH mutation, who exhibited a partial form of PGD with polyneuropathy, suggesting that localization of mutations influence phenotypic expression [2].

High impact information on DHH

  • We found, in the patient, a homozygous missense mutation (ATG-->ACG) at the initiating codon in exon 1 of the desert hedgehog (DHH) gene, which predicts a failure of translation of the gene [3].
  • We show that at the highest level the HAD superfamily is unified with several other superfamilies, namely the DHH, receiver (CheY-like), von Willebrand A, TOPRIM, classical histone deacetylases and PIN/FLAP nuclease domains, all of which contain a specific form of the Rossmannoid fold [4].
  • Mutations in the desert hedgehog (DHH) gene in patients with 46,XY complete pure gonadal dysgenesis [2].
  • This constitutes the first report where mutations of DHH are associated with the presence of 46,XY complete PGD, demonstrating that the genetic origin of this entity is heterogeneous and that disorders in other genes, different from SRY, involved in the testis-determining pathway are implicated in abnormal testicular differentiation in humans [2].
  • SHH, DHH, and GLI1 expression was also analyzed in ten snap-frozen specimens by Western blot [5].

Biological context of DHH

  • Coding sequence abnormalities in DHH were assessed by exon-specific PCR, single-stranded conformation polymorphism (SSCP) and direct sequencing [1].
  • Desert hedgehog's (DHH) importance regarding male sex differentiation has been demonstrated in various studies we describe here, for the first time, two cases of MGD in which a monoallelic single base deletion in DHH is associated with the disorder [1].
  • Assignment of desert hedgehog (DHH) to human chromosome bands 12q12-->q13.1 by in situ hybridization [6].
  • Assignment of human desert hedgehog gene (DHH) to chromosome band 12q13.1 by in situ hybridization [7].

Anatomical context of DHH

  • These data demonstrate that DHH is a key molecule in both male gonadal differentiation and perineurial formation in peripheral nerves [8].

Other interactions of DHH

  • The family of HH proteins consists of at least three different members, i.e., sonic HH (SHH), Indian HH (IHH), and desert HH (DHH) [9].


  1. A heterozygous mutation in the desert hedgehog gene in patients with mixed gonadal dysgenesis. Canto, P., Vilchis, F., Söderlund, D., Reyes, E., Méndez, J.P. Mol. Hum. Reprod. (2005) [Pubmed]
  2. Mutations in the desert hedgehog (DHH) gene in patients with 46,XY complete pure gonadal dysgenesis. Canto, P., Söderlund, D., Reyes, E., Méndez, J.P. J. Clin. Endocrinol. Metab. (2004) [Pubmed]
  3. A novel mutation of desert hedgehog in a patient with 46,XY partial gonadal dysgenesis accompanied by minifascicular neuropathy. Umehara, F., Tate, G., Itoh, K., Yamaguchi, N., Douchi, T., Mitsuya, T., Osame, M. Am. J. Hum. Genet. (2000) [Pubmed]
  4. Evolutionary Genomics of the HAD Superfamily: Understanding the Structural Adaptations and Catalytic Diversity in a Superfamily of Phosphoesterases and Allied Enzymes. Burroughs, A.M., Allen, K.N., Dunaway-Mariano, D., Aravind, L. J. Mol. Biol. (2006) [Pubmed]
  5. Sonic and desert hedgehog signaling in human fetal prostate development. Zhu, G., Zhau, H.E., He, H., Zhang, L., Shehata, B., Wang, X., Cerwinka, W.H., Elmore, J., He, D. Prostate (2007) [Pubmed]
  6. Assignment of desert hedgehog (DHH) to human chromosome bands 12q12-->q13.1 by in situ hybridization. Tate, G., Satoh, H., Endo, Y., Mitsuya, T. Cytogenet. Cell Genet. (2000) [Pubmed]
  7. Assignment of human desert hedgehog gene (DHH) to chromosome band 12q13.1 by in situ hybridization. Kamisago, M., Kimura, M., Furutani, Y., Furutani, M., Takao, A., Momma, K., Matsuoka, R. Cytogenet. Cell Genet. (1999) [Pubmed]
  8. Minifascicular neuropathy: a new concept of the human disease caused by desert hedgehog gene mutation. Umehara, F., Tate, G., Itoh, K., Osame, M. Cell. Mol. Biol. (Noisy-le-grand) (2002) [Pubmed]
  9. Clinical aspects of disrupted Hedgehog signaling (Review). Oldak, M., Grzela, T., Lazarczyk, M., Malejczyk, J., Skopinski, P. Int. J. Mol. Med. (2001) [Pubmed]
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