[Male XX syndrome: contribution of the caprine and porcine models].
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Animals↗
Biomedical subjects
E Pailhoux
Publications and source records attributed to E Pailhoux.
Sheep gene mapping: assignment of ALDOB, CYP19, WT and SOX2 by somatic cell hybrid analysis.
Twenty-four hamster-sheep hybrid cell lines representing eleven ovine synteny groups were used to make syntenic assignments for seven loci ALDOB (aldolase B, fructose biophosphate); AMH (anti-Müllerian hormone); CYP19 [cytochrome P450 aromatase, subfamily XIX (aromatization of androgens)]; WT (Wilms' tumour gene); SOX2 (SRY-related HMG-box gene 2); FSHB (follicle-stimulating hormone, beta polypeptide); and SRY (sex region of Y chromosome). These loci were assigned to synteny groups U11(chr2) (ALDOB); U19 (AMH); U3(chr7) (CYP19); and to chromosome 15 (WT) and 1 (SOX2). SRY defines the hybrids containing the Y chromosome.
Animals↗
Molecular analysis of an XY mare with gonadal dysgenesis.
In this study, cytogenetic analysis of an infertile mare revealed a 64, XY karyotype. The XY sex-reversed animal had a female phenotype with gonadal dysgenesis. Using Southern blot analysis, we tested for the presence of two Y-specific genes SRY and ZFY by using DNA isolated from peripheral blood leukocytes. The results showed that at least the DNA-binding domain of the SRY gene was deleted from the Y chromosome of the XY mare but that the ZFY gene was present on this chromosome.
Animals↗
Evolutionary conservation of a microsatellite in the Wilms tumour (WT) gene: mapping in sheep and cattle.
A microsatellite in the WT (Wilms tumour) gene is shown to be evolutionarily conserved in a range of mammals. The microsatellite was monomorphic in pig and two alleles have been found in goat. In cattle, a one-base size polymorphism has been discovered outside the microsatellite. WT was genetically mapped to bovine chromosome 15 and to sheep chromosome 15 by synteny mapping. Conservation of chromosome segments of HSA11 and BTA15 is discussed.
Animals↗
Identification of a functional androgen response element in the promoter of the gene for the androgen-regulated aldose reductase-like protein specific to the mouse vas deferens.
Mouse vas deferens protein (MVDP), a member of the aldo-keto reductase superfamily, is exclusively produced in the epithelial cells of the deferent duct under androgenic regulation. To better understand androgenregulated MVDP gene expression, the location and sequences of androgen response elements (AREs) in the 5'-flanking DNA were determined. Sequence analysis revealed two putative AREs as follows: one between positions -1186 and -1171 (distal ARE) and the other between -111 and -97 (proximal ARE). To study hormonal regulation, fragments of the MVDP promoter region, extending from residue -1804 to +41, were linked to the chloramphenicol acetyltransferase (CAT) reporter gene and cotransfected with a human androgen receptor expression vector into T47D cells in a transient expression assay. A minimal region (-121 to +41) was identified as being sufficient for androgen-regulated gene expression. A mutation in proximal ARE almost completely abolished androgen induction of CAT. One copy of the sequence TGAAGT tcc TGTTCT, cloned in the opposite orientation in front of the thymidine kinase promoter, confers androgen responsiveness to the CAT reporter gene. Androgen transcriptional activity was not detected with the distal ARE. The data provide strong evidence that transcriptional regulation of the MVDP gene occurs via the sequence TGAAGT tcc TGTTCT.
Aldehyde Reductase↗
Genetic analysis of 38XX males with genital ambiguities and true hermaphrodites in pigs.
In pig, the frequency of intersexuality ranges from 0.1 to 0.6%, depending on the breed. In a closed pig herd at INRA an intersex condition was observed in 0.75% of 'females'. The present study describes 11 animals with a 38XX karyotype and the presence of testicular tissue. Phenotypically, all presented with abnormal external or/and internal genitalia. Southern blot analysis with Y-specific probes (SRY and ZFY) revealed the absence of Y material in all animals tested. By polymerase chain reaction (PCR) amplification, 10 of 11 intersex pigs lacked the SRY gene in gonad DNA. These data are compatible with an autosomally (or pseudoautosomally) determined mechanism. Moreover, analysis of familial cases seemed to indicate that 38XX male pseudohermaphrodites and 38XX true hermaphrodites may represent alternative manifestations of the same genetic defect.
Animals↗
Molecular analysis of 60,XX pseudohermaphrodite polled goats for the presence of SRY and ZFY genes.
The polled mutation is characterized by a recessive, incompletely penetrant, hermaphroditic effect associated with the dominant genetic factor responsible for polledness in breeds of goat. The present study describes the external morphology, anatomy of the reproductive tract, histology, chromosomal constitution and Y chromosome screening of three intersex polled goats. The animals were tested for different Y-specific sequences, including SRY and ZFY. Using Southern blot and PCR amplification, no Y-derived sequences were detected in DNA from three 60,XX pseudohermaphrodite goats. This, therefore, excludes Y chromosome translocation and XX/XY chimaerism and mosaicism. This recessive mutation leading to sex reversal might be used to map and ultimately clone the autosomal genes implicated in the sex-determining pathway.
Animals↗
The genomic organization and DNA sequence of the mouse vas deferens androgen-regulated protein gene.
The gene for mouse vas deferens protein (MVDP) is expressed, under androgenic control, exclusively in the epithelial cells of the deferent duct. As a first step in correlating cell-specific and hormonal regulations with the structure of the gene, the complete sequence of the MVDP gene (11 kb) and 0.5 kb of the 5' flanking region have been determined. The size range for the 10 exons is 78 to 168 bp, whereas that of introns is 292 to 2833 bp. A major site of transcription is located on an A residue 46 nucleotides upstream from the A of the ATG initiation codon. A TATA (CATAA) box, a CAAT box, a GC-rich motif and a (5'-TGTTCT-3') element that closely resembles the consensus sequence of the androgen response elements are present in the 5' flanking region of the MVDP gene.
Aldehyde Reductase↗
Androgen dependence during development of the mouse vas deferens protein mRNA.
The mRNA encoding a major protein of the mouse vas deferens (MVDP) was first detected in 10-day-old males and its concentration increased sharply between 10 and 20 days, reaching adult levels at 40 days. This increase was not associated with an increase in tissular androgen concentrations. In 30-day-old mice castrated at birth or treated with cyproterone acetate over 29 days, MVDP mRNA levels were not abolished and were similar to those measured in 10- and 20-day-old controls. These results suggest that the neonatal expression of MVDP gene is independent of androgens. In addition, precocious accumulation of MVDP mRNA could be induced by injection of excess amounts of androgens in 20- but not in 10-day-old animals. The prepubertal increase in MVDP mRNA levels is androgen-dependent but other factors may be necessary for MVDP expression.
Aldehyde Reductase↗
Lack of expression of the mRNA encoding a major protein of the mouse vas deferens after neonatal exposure to oestrogens.
We have previously characterized an androgen-inducible secretory protein from the mouse vas deferens (MVDP), and a cDNA to its mRNA has been obtained. This report describes altered MVDP gene expression after neonatal exposure to oestrogens. As shown by immunohistochemistry and Western blot analysis, MVDP was missing in the vas deferens from adult mice neonatally exposed to oestrogens. Northern blot analysis showed that the expression of MVDP mRNA was also suppressed. Exogenous testosterone was unable to stimulate MVDP production (either message or protein) in neonatally oestrogenized males. The results suggest that the alterations in gene expression in the oestrogen-exposed vas deferens reflect changes in the programme of differentiation of the organ itself.
Aldehyde Reductase↗
[Characterization of cDNA and of the gene corresponding to androgen-dependent protein of the vas deferens in mice].
A 34.5 kDa abundant protein named MVDP (Mouse Vas Deferens Protein) is produced and secreted by vas deferens epithelial cells from adult mice. Steady-state levels of MVDP and its 1.4 kb mRNA are markedly decreased 30 days after castration. Testosterone treatment for 2 weeks is necessary to completely reverse the effect of castration. A cDNA encoding MVDP has been cloned and entirely sequenced. A protein of 316 amino acids encoded by an open reading frame of 948 nucleotides shows 82% homology with a human placental aldose reductase. A gene corresponding to MVDP cDNA has been recently isolated ans characterized. The gene extends over approximately 11 kb and consists of 10 exons. Its structure is very similar to that of the human aldose reductase gene. The promotor region of MVDP gene contains an androgen responsive element consensus located 97 nucleotides upstream the transcription initiation site.
Aldehyde Reductase↗
Androgen regulation of the mRNA encoding a major protein of the mouse vas deferens.
A cDNA encoding the major mouse vas deferens protein (MVDP) has been cloned and characterized. Using in situ hybridization we have identified the epithelial cells of the vas deferens as the site of synthesis of MVDP mRNA. Northern blot analysis suggests that a high level of an mRNA corresponding to the MVDP gene is present in the mouse vas deferens whereas the amount of MVDP mRNA in vas deferens of other species studied, or in other mouse tissues, even if present, is undetectable. Steady-state levels of MVDP mRNA are decreased by approximately 42% 3 days after castration but a significant hybridization signal is still observed even 50 days after castration. Testosterone treatment for 2 weeks is necessary to completely reverse the effect of castration. In vitro transcription assays on isolated nuclei showed that the hormonal induction of the MVDP gene is achieved mainly at transcriptional level.
Aldehyde Reductase↗