RGD Reference Report - A missense mutation of the Dhh gene is associated with male pseudohermaphroditic rats showing impaired Leydig cell development. - Rat Genome Database

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A missense mutation of the Dhh gene is associated with male pseudohermaphroditic rats showing impaired Leydig cell development.

Authors: Kawai, Yasuhiro  Noguchi, Junko  Akiyama, Kouyou  Takeno, Yuriko  Fujiwara, Yasuhiro  Kajita, Shimpei  Tsuji, Takehito  Kikuchi, Kazuhiro  Kaneko, Hiroyuki  Kunieda, Tetsuo 
Citation: Kawai Y, etal., Reproduction. 2011 Feb;141(2):217-25. doi: 10.1530/REP-10-0006. Epub 2010 Nov 9.
RGD ID: 38548923
Pubmed: (View Article at PubMed) PMID:21062903
DOI: Full-text: DOI:10.1530/REP-10-0006

Development of the male gonads is a complex process with interaction of various cells in the gonads including germ, Sertoli, Leydig, and myoid cells. TF is a mutant rat strain showing male pseudohermaphroditism, with agenesis of Leydig cells and androgen deficiency controlled by an autosomal single recessive gene (mp). The mp locus was mapped on the distal region of rat chromosome 7 by linkage analysis, but the gene responsible for the mp mutation has not been identified. In this study, we performed fine linkage mapping and sequence analysis to determine the causative gene of the mp mutation, and performed an immunohistochemical study using a Leydig cell-specific marker to investigate detailed phenotypes of the mutant rats during the testicular development. As a result, we found a missense mutation of the gene encoding Desert hedgehog (Dhh) in the mutant rat, which could result in loss of function of the DHH signaling pathway. Histochemical examination revealed remarkably reduced number of fetal Leydig cells and lack of typical spindle-shaped adult Leydig cell in the mp/mp rats. These phenotypes resembled those of the Dhh-null mice. Additionally, testosterone levels were significantly lower in the mp/mp fetus, indicating androgen deficiency during embryonic development. These results indicate that the mutation of the Dhh gene may be responsible for the pseudohermaphrodite phenotypes of the mutant rat, and that the Dhh gene is probably essential for the development of Leydig cells.



Phenotype Annotations    
Objects Annotated

Genes (Rattus norvegicus)
Dhh  (desert hedgehog signaling molecule)

Strains
TF  (NA)


Additional Information