Human Y variants

Figure 1

Diagrammatic comparison of RGB-banded normal Y and inv(Y) chromosomes showing the localization of DAZ (red) and RBM (green) gene clusters. Breakpoints are indicated by arrows.

Literature: Pasantes JJ, Rottger S, Schempp W. 1997 Part of the RBM gene cluster is located distally to the DAZ gene cluster in human Yq11.23. Chromosome Res 5:537-40 ( > Abstract )

Figure 2

In a the SYBL1 cosmid (green) as a marker for PAR2 can be detected only at the tip of Xq, whereas no signals can be detected at the tip of Yq. The ANT3 cosmid (red) as a marker for PAR1 gives signals on both distal ends of Xp and Yp. In b the all-human-telomere probe (TTAGGG)n clearly detects the targets for the telomere sequences in Yp and Yq. The Y centromeres are marked by small bars.

Literature: Rottger S, Pasantes J, Baldermann C, Reichl E, Yen P, Hansmann I, Schempp W. (2000) Familial mosaicism of del(Y) and inv del(Y) Cytogenet Cell Genet 91:208-11 ( > Abstract )

Figure 3

Two-color FISH with 18S+28S rDNA (green) and DYZ1 probe (red) reveals the rDNA sites in all 10 short arms of acrocentric autosomes and in addition in the telomeric long arm of the Yqs chromosome (enlarged in the inset lower left). The DYZ1 probe specific for Yqh hybridizes to the DAPI-positive segment directly proximal to the rDNA-site of Yqs. Y centromeres are marked by small bars.

Literature: Loss of the Y chromosomal PAR2-region in four familial cases of satellited Y chromosomes (Yqs). Kuhl H, Rottger S, Heilbronner H, Enders H, Schempp W. (2001) Chromosome Res 9:215-22 ( > Publication in full text )

Figure 4

Inv(Y)-type III. Arrows point to inversion breakpoints in the short arm in Yp11.2 and in the long arm in Yq11.223. The inversion breakpoint in Yq11.223 resulted in split signals for DAZ (red) and CDY (green).

Literature: Heterogeneity of pericentric inversions of the human Y chromosome. Knebel S, Pasantes JJ, Thi DAD, Schaller F, Schempp W (2011) Cytogenet Genome Res 132: 219-226 ( > Publication in full text )