Deletion mapping of the testis determining locus with DNA probes in 46,XX males and in 46,XY and 46,X,dic(Y)females

Abstract

Eleven Y-specific DNA probes hybridizing with DNA from one or more 46,XX males were isolated from a recombinant phage DNA library constructed from flow sorted human Y chromosomes. Two probes hybridized with DNA from nine out of eleven, i.e. greater than 80% of these 46,XX males. The relative frequency of hybridization of the probes in the 46,XX males and in a 46,X,dic(Y) female, together with in situ hybridization data, allowed mapping of the probes on Yp in relation to a putative testis determining locus. Several of those probes were also absent in a 46,XY female, further refining a model for ordering the probes on Yp. The DNA of one XX male hybridized both with probes from Yp and probes from proximal Yq (excluding the pericentral region). This suggests that complex translocations may occur into the DNA of 46,XX males that involve not only parts of Yp but also parts of Yq.

The sex-determining region of the human Y chromosome encodes a finger protein

“…Second, increased expression of the X-chromosomal locus, perhaps due to a failure of X-inactivation (generalized or specific to this locus) could result in testicular differentiation in the absence of the Y-chromosomal locus, TDF. This might explain the presence of testicular tissue in XX hermaphrodites and the rare Y(-) XX males, who lack interval lA2 of the Y chromosome and, therefore, TDE As judged by Y-DNA analysis, some XY females lack the sex-determining region of the Y chromosome (Disteche et al, 1986;Mtiller et al, 1986;Magenis et al, 1987; D.C.P. and colleagues, unpublished results).…”

Investigation of the effects of experimental cryptorchidism formed in prepubertal rats during the postpubertal and adult periods

“…Unilateral cryptorchidism is more frequently (1.6-1.9 %) compared to bilateral cryptorchidism. (20). The descent of testes into scrotal pouch is usually completed in the second trimester.…”

“…The descent of testes into scrotal pouch is usually completed in the second trimester. However, a high cryptorchidism rate in prematures points out that the descent will be completed until delivery (20,21).…”

An Infertility SRY-Negative 46, XX Male Detected by Quantitative Fluorescent Polymerase Chain Reaction

“…These males are infertile [8,13] and most have ambiguous external genitalia [14][15][16]. In some cases, a normal male phenotype is seen [17]. Until now, the mechanism resulting in SRY-negative 46, XX males are unknown.…”