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E Seboun

Publications and source records attributed to E Seboun.

24 records · Page 2Linked to original sources

Testis-specific transcripts detected by a human Y-DNA-derived probe.

A genomic sequence (12f3), derived from the long arm of the human Y chromosome, detects a 1.6 kb mRNA, expressed in human and mouse testis, but not in other tissues tested by Northern blot analysis. Using 12f3 as a probe, a mouse cDNA, designated PL5, was isolated from an adult mouse testis cDNA library. The profile obtained by Southern blot analysis using PL5 as probe under high-stringency conditions, reveals that 12f3 probably represents a Y-located pseudogene which was derived from an autosomally located gene. Southern blot analysis of different vertebrate species, using probe PL5, shows that this gene has been highly conserved during evolution. Preliminary in situ hybridizations on testis tissue sections indicate that PL5 is expressed during the postmeiotic stages of male germ cell differentiation and thus may play a role during spermatogenesis. A second cDNA, also obtained from the testis cDNA library, weakly cross-reacts with 12f3. This cDNA, designated PL10, detects a mRNA of approximately 4 kb which is highly expressed in mouse testis, but not in male or female mouse liver. The gene corresponding to this cDNA is also well conserved among vertebrates.

Chromosome Mapping↗

[An XX male newborn infant. A genetic and endocrinologic study].

The second child of a non consanguineous couple had a male phenotype with two intrascrotal testes of normal size however a scrotum bifidum was noted. The karyotype of the child was 46 XX and the parents one's was normal. No Y specific sequence was detected by using four Y specific probes (47 B, 12 F3, 52 D and 118). During the first semester of life, hormonal investigations showed a normal testicular function.

Androgens↗

[XX male syndrome: a study model of the genetic determination of the male sex].

Using Y-specific probes, issued from a library of the human Y chromosome, DNA from about 30 XX men has been studied by the Southern technique. Two groups of patients could be distinguished: one with Y genetic material, the second, without Y DNA. Among XX males with Y sequences there was a genetic heterogeneity with a variable amount of Y DNA sequences. These Y DNA sequences come from the short arm of the Y chromosome and are probably translocated to the paternal X. Concerning the other group, in which no Y sequence could be detected, either Y DNA was present but was not detected, or the mechanism of maleness was Y-independent.

Base Sequence↗

[Normal male phenotype or hypospadias and female karyotype. XX male syndrome in children and adolescents].

A morphologically normal 46 XX karyotype has been found in 8 patients with male phenotype, either normal (3 cases) or hypospadiac (5 cases) studied at age 1 month to 15 years. Five had cryptorchidism. Pubertal follow-up was obtained in 6 patients and showed that they had hypogonadism with small testes, and a mean adult height of 163 cm. The hormonal investigations gave normal results before puberty, then after the onset of puberty a hypergonadotropic hypogonadism. Testicular biopsy showed alterations from age 8 years. Studies using Y-specific probes in 3 patients have shown the presence of Y genetic material in 2 and absence in 1, thus demonstrating genetic heterogeneity of the XX males.

Adolescent↗

Prenatal identification of a Y-chromosome deletion by Y-specific single copy DNA probes.

A sex chromosome deletion was identified in the course of prenatal diagnosis for maternal age. Ultrasound pictures revealed male fetal sex and a comparison with the father's Y chromosome suggested that the altered chromosome might be a de novo deletion of the Y chromosome. DNA hybridization with five human Y-specific probes shows that, among the Y-specific sequences recognized by the probes, only two of them are absent. The normal infant, at birth, was mosaic 46, XYq-/46,XY.

Adult↗