Syndrome Produced by Absence of the Germinal Epithelium Without Impairment of the Sertoli or Leydig Cells

Castillo-Rodríguez, Esmeralda; Trabucco, Armando E.; Balze, F. A. De La

doi:10.1210/jcem-7-7-493

Cited by 191 publications

(48 citation statements)

References 14 publications

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“…Anti-mouse Gas8 antibodies detected GAS8/GAS11 in the flagella of human sperm (data not shown) and in the testes of both fertile human males and males having obstructive azoospermia. However that GAS8/GAS11 protein is absent from the testes of infertile human males with Sertoli cell-only syndrome, which is associated with an absence of gametocytes in seminiferous tubules (30), is consistent with evidence that Gas8 expression in mouse testes occurs specifically in gametocytes. Given the localization of Gas8 in motile cellular appendages of both sperm and bronchial epithelial cells, it is of some interest that a clinical association between human male infertility due to reduced sperm motility and respiratory disease due to immotile cilia of bronchial epithelial cells has been observed (37).…”

Section: Discussionsupporting

confidence: 79%

Isolation and Properties of Gas8, a Growth Arrest-specific Gene Regulated during Male Gametogenesis to Produce a Protein Associated with the Sperm Motility Apparatus

Yeh¹,

Chen²,

Chang³

et al. 2002

Journal of Biological Chemistry

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Growth arrest-specific (Gas) genes are expressed during serum starvation or contact inhibition of cells grown in culture. Here we report the isolation and characterization of Gas8, a novel gene identified on the basis of its growth arrest-specific expression in murine fibroblasts. We show that production of Gas8 mRNA and protein occurs in adult mice predominantly in the testes, where expression is regulated during postmeiotic development of male gametocytes. Whereas a low level of Gas8 mRNA was detected by Northern blotting in testes of murine male neonates and young adolescents, Gas8 mRNA increased rapidly postmeiotically. In adult males, both Gas8 mRNA and protein reached steady state levels in testes that were 10-fold higher than in other tissues. Immunohistochemical analyses showed that Gas8 protein accumulates in gametocytes as they approach the lumen of seminiferous tubules and is localized to the cytoplasm of round spermatids, the tails of elongating spermatids, and mature spermatid tail bundles protruding into the lumen; in epididymal spermatozoa Gas8 protein was present in the flagella. However, premeiotic murine gametocytes lacked detectable Gas8 protein, as did seminiferous tubules in biopsy specimens from seven human males having cytological evidence of nonobstructive azoospermia secondary to Sertoli cell-only syndrome. Our findings, which associate Gas8 production developmentally with the later stages of spermatogenesis and spatially with the sperm motility apparatus, collectively suggest that this growth arrest-specific gene product may have a role in sperm motility. This postulated role for Gas8 is supported by our observation that highly localized production of Gas8 protein occurs also in the cilia of epithelial cells lining pulmonary bronchi and fallopian tubes and by the flagellar association of a Trypanosoma brucei ortholog of Gas8.

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Section: Discussionsupporting

confidence: 79%

Isolation and Properties of Gas8, a Growth Arrest-specific Gene Regulated during Male Gametogenesis to Produce a Protein Associated with the Sperm Motility Apparatus

Yeh¹,

Chen²,

Chang³

et al. 2002

Journal of Biological Chemistry

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“…The small size of the gonads is the result of a lack of germ cells, similar to the Del Castillo syndrome in humans [35]. We found that in all studied species the early genital ridges were normally formed.…”

Section: Bombina H Arborea B Viridis R Temporaria)supporting

confidence: 69%

Differential effects of busulfan on gonadal development in five divergent anuran species

Piprek

Pecio

Kubiak

et al. 2012

Reproductive Toxicology

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A c c e p t e d M a n u s c r i p t HighlightsThe effects of busulfan on the gonadal development were investigated in anuran amphibians.The tadpoles treated with busulfan did not display sex reversal signs. The complete germ cell loss was observed in X. laevis. Germ cells are not necessary for the testis formation but are crucial during ovarian development. *Research HighlightsPage 2 of 33 A c c e p t e d M a n u s c r i p t A c c e p t e d M a n u s c r i p t AbstractThe aim of this paper was to investigate the effects of germ cell depletion on the sexual differentiation of gonads in five anuran species. We used busulfan to eliminate the germ cells. Our results indicate that germ cells are not required for gonadal ridge formation or the development of the undifferentiated gonads. We observed a gradual degeneration of gonads in studied species and the transdifferentiation of the whole gonads into large fat bodies in Xenopus laevis. In the latter the sexual differentiation of gonads or seminiferous tubules were not impaired in the absence of germ cells. Thus, the X. laevis may serve as a model to study the human Del Castillo syndrome. Our study shows that in anuran amphibians the germ cells are not necessary for the formation of the testis, but they are crucial for development of the ovaries and are required for the maintenance of the gonadal structure.

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“…1) on our patient demonstrated absence of germ cells and normal Sertoli cells with their luminal apices resembling "wind-swept treetops" (Sniffen et al, 1951), a picture very similar to that found in adults with the Sertoli-cell-only (del Castillo) syndrome (Sniffen et al, 1951;del Castillo et al, 1947;Wong et al, 1973;Zarate et al, 1974). The absence of germ cells in our patient is unique when compared to previously reported testicular biopsies of children (Laurance, 1967;Zellweger and Schneider, 1968;Gabilan and Royer, 1968;Murken et al, 1966) and prepubertal males between the ages of 19 and 23 years with the Prader-Willi syndrome (Hamilton et al, 1972).…”

Section: Discussionsupporting

confidence: 78%

Absence of spermatogonia in the Prader-Willi syndrome

et al. 1977

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Syndrome Produced by Absence of the Germinal Epithelium Without Impairment of the Sertoli or Leydig Cells

Cited by 191 publications

References 14 publications

Isolation and Properties of Gas8, a Growth Arrest-specific Gene Regulated during Male Gametogenesis to Produce a Protein Associated with the Sperm Motility Apparatus

Isolation and Properties of Gas8, a Growth Arrest-specific Gene Regulated during Male Gametogenesis to Produce a Protein Associated with the Sperm Motility Apparatus

Differential effects of busulfan on gonadal development in five divergent anuran species

Absence of spermatogonia in the Prader-Willi syndrome

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