Variable transfer of Y-specific sequences in XX males

Abstract

A series of twelve XX males and their relatives have been examined by Southern blot analysis with fourteen different Y recombinants. The pattern of Y sequences present shows considerable variation between XX males. Furthermore, on the basis of the terminal transfer model, anomalous patterns of Y sequences are evident in certain XX males in that sequences located as proximal Yp by means of a Y deletion panel are found to be present in the absence of distal sequences. These anomalies can be resolved by proposing that the order of Yp sequences varies in the population in the form of inversion polymorphisms in the Y chromosomes of normal males. Alternatively, it is necessary to invoke multiple recombination events between the X and Y chromosomes to explain the patterns of Y sequences in these XX males. Southern analysis on DNA prepared from flow sorted X chromosomes of XX males indicates that the Y sequences in these patients are linked to X chromosomes.

XY sex reversal associated with a deletion 5' to the SRY "HMG box" in the testis-determining region.

“…Agarose gel electrophoresis, transfer to nylon membranes (Hybond N, Amersham), prehybridization, hybridization to 32P-labeled probes, and autoradiography were performed essentially as described elsewhere (12). Blots were hybridized with the probes pY53.3, pDP1225, p09, pDP1226, and pDP1007 (2,3,(13)(14)(15). Paternity was checked using minisatellite DNA probes (16).…”

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

“…Distances from the chromosomal breakpoint in XX male LGL203 are shown in kilobases. Arrows indicate the starting points of the primary walk, clone pDP307, and of the secondary walk, clone GMGY3 (Affara et al, 1986). In all, 49 recombinant lambda phages with overlapping human inserts were isolated from genomic libraries.…”

“…During the chromosomal walk of this region, we determined that an independently derived Y-chromosomal sequence, GMGY3 (Affara et al, 1986) maps in interval 1Al; it is present in both XX male LGL203 and X,t(Y;22) female WHT1013. Affara and colleagues had previously demonstrated that GMGY3 is present in most XX males.…”

A human Y-chromosomal DNA sequence expressed in testicular tissue

“…We distinguish: a) a "pseudoautosomal" homologous pairing region distal on Yp with highly homologous DNA sequences on the distal parts of Xp (49 5,6); b) a pericentric non-homologous pairing region, where DNA sequences of different degrees of sequence homology can be found, ranging +rom homology between Y and X or Y and autosomes to Y specificity (7,8,9,10,11); c) a meiotic non-pairing region including most of the long arm .…”

“…The DNA linkage map of the human Y chromosome and its correlation with defined cytogenetical regions is steadily improving due to accumulating data from DNA of patients with abnormal sex chromosomes hybridized with Y-specific DNA probes (10)(11)(12)(13). Nothing is known , however about the molecular structure and function of the operationally defined TDF, which plays an essential role in sex determination.…”