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A human autosomal XY sex reversal locus, SRA1, associated with the skeletal malformation syndrome campomelic dysplasia (CMPD1), has been placed at distal 17q. The SOX9 gene, a positional candidate from the chromosomal location and expression pattern reported for mouse Sox9, was isolated and characterized. SOX9 encodes a putative transcription factor(More)
Silver staining is reported to be reduced in chromatin substituted by BUDR. This quenching effect allows for the demonstration of replication patterns and differential chromatid staining. Though the differentiation, as compared to other staining techniques, is of inferior quality, it is of theoretical importance concerning the effect of BUDR incorporation(More)
Early replication of prometaphasic human sex chromosomes was studied with the bromodeoxyuridine (BrdU)-replication technique. The studies reveal that two distal segments of Xp, including bands Xp 22.13 and Xp 22.3, replicate early in S-phase and therefore may not be subject to random inactivation. Furthermore, the replication of these distal segments of Xp(More)
A modified BrdU-Hoechst-Giemsa technique permitted the demonstration of easily reproducible replication patterns in the somatic chromosomes of Amphibia. These banding patterns allow for the first time a precise identification of all chromosomes and the analysis of the patterns of replication in the various stages of S-phase in Amphibia. Several(More)
A 19-year-old male with azoospermia was found to have a 45,X karyotype with additional euchromatic material on 15p. The parents' karyotypes are normal. The cytogenetic data, the positive H-Y-typing, and the presence of Yp-specific restriction fragments detected in the proband's genome by molecular DNA probes suggest that the short arm of the Y chromosome,(More)
There are two main classes of natural killer (NK) cell receptors in mammals, the killer cell immunoglobulin-like receptors (KIR) and the structurally unrelated killer cell lectin-like receptors (KLR). While KIR represent the most diverse group of NK receptors in all primates studied to date, including humans, apes, and Old and New World monkeys, KLR(More)
In situ hybridization using a repeated element specific for the human pseudoautosomal region, DXYZ2, revealed the presence of this repeat in the early replicating portion of the sex chromosomes of the great apes. This segment, as well as the DXYZ2 repeats, are located in band Xp22.3 and in a telomeric or subtelomeric region of the Y chromosome. These(More)
The male-specific regions of the Y chromosome (MSY) of the human and the chimpanzee (Pan troglodytes) are fully sequenced. The most striking difference is the dramatic rearrangement of large parts of their respective MSYs. These non-recombining regions include ampliconic gene families that are known to be important for male reproduction,and are consequently(More)
The human DAZ (deleted in azoospermia) gene family on the Y chromosome and an autosomal DAZ-like gene, DAZL1, encode RNA-binding proteins that are expressed exclusively in germ cells. Their role in spermatogenesis is supported by their homology with a Drosophila male infertility gene boule and sterility of Daz11 knock-out mice. While all mammals contain a(More)
Several genes located within or proximal to the human PAR in Xp22 have homologues on the Y chromosome and escape, or partly escape, inactivation. To study the evolution of Xp22 genes and their Y homologues, we applied multicolour fluorescence in situ hybridization (FISH) to comparatively map DNA probes for the genes ANT3, XG, ARSD, ARSE (CDPX), PRK, STS,(More)