High-resolution fluorescence in situ hybridization of human Y-linked genes on released chromatin

  title={High-resolution fluorescence in situ hybridization of human Y-linked genes on released chromatin},
  author={Birgitta Gla¨ser and Thomas Hierl and Kay E Taylor and Katrin Schiebel and Sylvia Zeitler and Katia Papadopoullos and Gudrun A. Rappold and Werner Schempp},
  journal={Chromosome Research},
Genes within the differential region of the human Y chromosome do not recombine, and therefore the determination of their location depends on physical mapping. Yeast artificial chromosome (YAC) contigs spanning the euchromatic region of the human Y have become a powerful tool for the generation of an overlapping clone map. With this approach,however, complete physical mapping is difficult in Y euchromatic regions that are rich in repetitive sequences. We have, therefore, made use of the… 
Evolution of the Y Chromosome in Primates
The human Y chromosome is one of the smallest human chromosomes with an estimated average size of 50–60 Mb (Morton, 1991; Tilford et al., 2001). Size variability is mostly caused by polymorphism in
Comparative mapping of Xp22 genes in hominoids – evolutionary linear instability of their Y homologues
It is demonstrated that the genes residing proximal to the PAR have a highly conserved order on the higher primate X chromosomes but show considerable rearrangements on the Y chromosomes of hominoids.
Reproductive fitness of the human Y chromosome
It is reported that the MSYY is a mosaic of heterochromatic sequences and three classes of euchromatics:: X-transposed, X-degenerate, and ampliconic, which contain all 156 known transcription units.
Simian Y Chromosomes: species-specific rearrangements of DAZ, RBM, and TSPY versus contiguity of PAR and SRY
The three human male specific expressed gene families DAZ, RBM, and TSPY are known to be repetitively clustered in the Y-specific region of the human Y Chromosome (Chr), and the proximity of SRY to the pseudoautosomal region (PAR) is highly conserved and thus most effectively stabilizes the pseudoAUTosomal boundary on the Y (PABY) in simians.
The use of spermHALO-FISH to determine DAZ gene copy number.
This study shows that with the use of highly decondensed sperm nuclei with large DNA domains (spermHALO) it is possible to determine the number of Deleted in AZoospermia (DAZ) genes accurately and indicates that spermHalO-FISH allows an accurate determination of DAZ gene copy number, while PCR digest assays do not.
Evolution of chromosome Y in primates
The results showed that this peculiar chromosome has undergone rapid and unconstrained evolution both in sequence content and organization.
AZFc somatic microdeletions and copy number polymorphism of the DAZ genes in human males exposed to natural background radiation
All germline samples studied were found to be free from AZFc microdeletions and CNP of the DAZ genes, suggesting an innate mechanism may be operative to protect the germline from the effects of NBR.
Fibre-fluorescence In Situ Hybridization Unravels Apparently Seven DAZ Genes or Pseudogenes Clustered Within a Y-chromosome Region Frequently Deleted in Azoospermic Males
Using the technique of 'fibre-FISH' (fluorescence in situ hybridization), we describe the direct visualization of seven longer DAZ signal stretches and in addition a maximum of four isolated single
Genetic Aspects of Male Sterility
The complex cell differentiation process of the male germ cell, spermatogen-esis, is a typical example of a regulative biological network based on the interaction of multiple genes, respectively, the


The human Y chromosome: overlapping DNA clones spanning the euchromatic region.
The human Y chromosome was physically mapped by assembling 196 recombinant DNA clones, each containing a segment of the chromosome, into a single overlapping array, revealing that Y-chromosomal genes are scattered among a patchwork of X-homologous, Y-specific repetitive, and single-copy DNA sequences.
High-resolution fluorescencein situ hybridization ofRBM- andTSPY-related cosmids on released Y chromatin in humans and pygmy chimpanzees
The results unequivocally lend support to the view that theRBM andTSPY families have an interspersed organization on the Y chromosomes of man and higher apes.
Localization of DNA sequences required for human centromere function through an analysis of rearranged Y chromosomes
Alphoid DNA is a functional part of the Y chromosome centromere and two suppressed Y centromeres on translocation chromosomes and dicentric isochromosomes that were also analysed two showed deletions one of which only removed alphoidDNA.
The pseudoautosomal regions of the human sex chromosomes
Gene pairs that are active on the X and Y chromosomes are suggested as candidates for the phenotypes seen in numerical X chromosome disorders, such as Klinefelter's (47,XXY) and Turner's syndrome (45,X).
Characterization of a YAC contig spanning the pseudoautosomal region.
This YAC contig anchored on the physical map of PAR1 represents one of the best characterized large regions of the human genome with a map completion greater than 90% at 100-kb resolution and has permitted the accurate localization of all known genes within this region.
Chromosomal bar codes produced by multicolor fluorescence in situ hybridization with multiple YAC clones and whole chromosome painting probes.
The potential to construct analytical chromosomal bar codes adapted to particular needs of cytogenetic investigations and automated image analysis is discussed.
Structure of the sequences adjacent to the centromeric alphoid satellite DNA array on the human Y chromosome.
Eighteen yeast artificial chromosome (YAC) clones containing alphoid satellite DNA and adjacent sequences from the human Y chromosome have been identified from three different YAC libraries.
TSPY-related sequences represent a microheterogeneous gene family organized as constitutive elements in DYZ5 tandem repeat units on the human Y chromosome.
TSPY (testis-specific protein, Y-encoded) is encoded by members of a Y-chromosome-specific sequence family. We show here that TSPY elements are part of the DYZ5 repeat unit. We have established a
A synaptobrevin–like gene in the Xq28 pseudoautosomal region undergoes X inactivation
Unlike all Xp PAR genes studied so far, a synaptobrevin-like gene, tentatively named SYBL1, undergoes X inactivation and is also inactive on the Y chromosome, thereby maintaining dosage compensation in an unprecedented way.
Identification of a second pseudoautosomal region near the Xq and Yq telomeres.
Data support the existence of genetic exchange at Xq-Yq, which defines a second pseudoautosomal region between the sex chromosomes.