Assignment1 of Desert Hedgehog (DHH) to human chromosome bands 12q12→q13.1 by in situ hybridization

  title={Assignment1 of Desert Hedgehog (DHH) to human chromosome bands 12q12→q13.1 by in situ hybridization},
  author={Genshu Tate and Hajime Satoh and Yuichi Endo and Toshiyuki Mitsuya},
  journal={Cytogenetic and Genome Research},
  pages={93 - 94}
Hedgehog was originally identified as a segment polarity gene in the fruit fly Drosophila melanogaster (Nusslein-Volhard and Wieschaus, 1980). Since then, several hedgehog homologs have been isolated from invertebrates as well as vertebrates (Echelard et al., 1993; Marigo et al., 1995). The Hedgehog multigene family consists of Sonic, Indian and Desert in humans and mice. In humans, Sonic hedgehog (SHH) was localized to chromosome band 7q36 and identified as a candidate gene responsible for… Expand
Desert hedgehog is a mammal-specific gene expressed during testicular and ovarian development in a marsupial
Examination of the expression and protein distribution of DHH, PTCH1 and PTCH2 in the developing testes of a marsupial mammal (the tammar wallaby) suggests that there is a highly conserved role for DHH signalling in the differentiation and function of the mammalian testis and that DHH may be necessary for mars upial ovarian development. Expand
In vitro and molecular modeling analysis of two mutant desert hedgehog proteins associated with 46,XY gonadal dysgenesis.
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A heterozygous mutation in the desert hedgehog gene in patients with mixed gonadal dysgenesis.
It is affirm that the phenotypic spectrum of patients with gonadal dysgenesis due to mutations in DHH is variable, providing extended evidence that DHH constitutes a key gene in gonadal differentiation. Expand
Mutations in the desert hedgehog (DHH) gene in the disorders of sexual differentiation and male infertility
Four novel mutations in the DHH gene are observed in the cases with different reproductive anomalies, including gonadal dysgenesis cases, and these mutations were completely absent in control samples. Expand
Novel homozygous mutations in Desert hedgehog gene in patients with 46,XY complete gonadal dysgenesis and prediction of its structural and functional implications by computational methods.
This is the first report from India wherein, two cases of 46,XY complete gonadal dysgenesis that could be attributable to mutations in the Desert hedgehog (DHH) gene are described. Expand
Mutations in the desert hedgehog (DHH) gene in patients with 46,XY complete pure gonadal dysgenesis.
The first report in which three cases of 46,XY complete PGD are attributed to mutations of the Desert hedgehog (DHH) gene, demonstrating that the genetic origin of this entity is heterogeneous and that disorders in other genes involved in the testis-determining pathway are implicated in abnormal testicular differentiation in humans. Expand
Novel Familial Variant of the Desert Hedgehog Gene: Clinical Findings in Two Sisters with 46,XY Gonadal Dysgenesis or 46,XX Karyotype and Literature Review
A 46,XY European woman with 46, XY GD and a novel homozygous DHH pathogenic variant is reported, confirming that this gene plays a key role in male gonadal development and not in the ovarian development pathway or its postpubertal function. Expand
Functional analysis of novel desert hedgehog gene variants improves the clinical interpretation of genomic data and provides a more accurate diagnosis for patients with 46, XY differences of sex development
Functional characterisation of novel DHH variants improves variant interpretation, leading to greater confidence in patient reporting and clinical management, and reaffirming that DHH is an autosomal recessive cause of 46,XY gonadal dysgenesis. Expand
In vitro functional characterization of the novel DHH mutations p.(Asn337Lysfs*24) and p.(Glu212Lys) associated with gonadal dysgenesis
A model that may explain the differences between Schwann and Leydig cell development by autocrine versus paracrine DHh signaling is proposed, which suggests differences in the processing mechanism between the two species. Expand
A novel mutation of desert hedgehog in a patient with 46,XY partial gonadal dysgenesis accompanied by minifascicular neuropathy.
The findings demonstrate that mutation of the D HH gene may cause 46, XY PGD associated with minifascicular neuropathy, and the first report of a human DHH gene mutation is reported. Expand


Cloning, expression, and chromosomal location of SHH and IHH: two human homologues of the Drosophila segment polarity gene hedgehog.
The hedgehog genes encode signaling molecules that play a role in regulating embryonic morphogenesis and have cloned and sequenced human cDNA copies of two of these genes, SHH and IHH, which are expressed in adult kidney and liver. Expand
Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly
The sonic hedgehog (SHH) gene is identified as the prime candidate for HPE, suggesting that a ‘position effect’ has an important role in the aetiology of HPE. Expand
Sonic hedgehog, a member of a family of putative signaling molecules, is implicated in the regulation of CNS polarity
Three members of a mouse gene family related to the Drosophila segment polarity gene, hedgehog (hh), are identified and it is suggested that Shh may play a role in the normal inductive interactions that pattern the ventral CNS. Expand
Mutations affecting segment number and polarity in Drosophila
The phenotypes of the mutant embryos indicate that the process of segmentation involves at least three levels of spatial organization: the entire egg as developmental unit, a repeat unit with the length of two segments, and the individual segment. Expand
Regional assignment of rat androsterone UDP-glucuronosyltransferase gene (UGT2B2) to chromosome 14p21.2-p22.
The present mapping is the first report on the precise localization of the rat UGT2B2 on high resolution banded metaphase chromosomes. Expand