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Triple-color FISH analysis of 12p amplification in testicular germ-cell tumors using 12p band-specific painting probes.

Forty-nine surgical specimens and nine germ cell tumor lines were analyzed by triple-color FISH using microdissected probes for the cytogenetic bands of chromosome arm 12p (12p11.2, p12, and p13). FISH analysis demonstrated amplification of material from all three bands in all tumors. This amplification was in the form of increased copy number of 12p or i(12p) and/or 12p amplified regions (AMP12p). The number of copies of 12p was variable (4-11 copies) from case to case but tended to remain relatively constant in all clones of the same tumor, even when the amplification took the form of an amplified region composed of 12p material. In tumors with multiple clones, i(12p) and AMP12p were never found in the same cell. No correlation was found between 12p copy number and tumor type. We describe, for the first time, a relative overrepresentation of 12p13 or 12p12-p13 regions in six tumors (two surgical samples and four cell lines), either as "partial 12p" (five cases) or within a 12p amplified region (one case). The ubiquitous amplification of all three 12p bands in germ-cell tumors supports the hypothesis that 12p harbors more than one gene important for oncogenesis of adult male germ-cell tumors, and that these genes may be located in different areas of 12p.

Adult↗

Chromosome painting in Callicebus lugens, the species with the lowest diploid number (2n=16) known in primates.

Cytogenetic studies have shown that New World primates are karyologically diverse and highly derived. The genus Callicebus is the best example of this karyological diversity, with diploid numbers ranging from 2n=50 to 2n=16. We report on Callicebus lugens, which has the lowest diploid number (2n=16) yet found in the primate order and represents a striking example of extreme karyotypic shuffling. To better understand the genomic rearrangements that have resulted in this extremely low diploid number, we mapped chromosome homologies between C. lugens and humans by in situ hybridization. The total number of hybridization signals was 42, excluding the Y chromosome, with a total of 34 syntenic associations not found in humans. This species has one of the most derived karyotypes among the Platyrrhini. Fusion has been the predominant mode of karyological evolution, although fissions and inversions have also transformed the C. lugens karyotype. Remarkably in such a highly rearranged karyotype, the synteny of 11 human chromosomes (4, 5, 9, 12, 13, 14, 17, 18, 20, 21, and X) was maintained intact, even if most of these human-homologous gene clusters were translocated. Other human syntenies, such as homologues to human chromosomes 10 and 16, were highly fragmented. Comparisons of the C. lugens-human homology map with those of other New World primates have not yet helped establish a phylogenic arrangement between congeneric species or link Callicebus with any other genus.

Animals↗

The effect of the wheat Ph1 locus on chromatin organisation and meiotic chromosome pairing analysed by genome painting.

The Ph1 locus in wheat influences homo(eo)logous chromosome pairing. We have analysed its effect on the behaviour and morphology of two 5RL rye telosomes in a wheat background, by genomic in situ hybridisation (GISH), using rye genomic DNA as a probe. Our main objective was to study the effect of different alleles of the Ph1 locus on the morphology and behaviour of the rye telosomes in interphase nuclei of tapetal cells and in pollen mother cells at early stages of meiosis. The telosomes, easily detectable at all stages, showed a brightly fluorescing chromomere in the distal region and a constriction in the proximal part. These diagnostic markers enabled us to define the centromere and telomere regions of the rye telosomes. In the presence of functional copies of Ph1, the rye telosomes associated at pre-leptotene, disjoined and reorganised their shape at leptotene, and became fully homologously paired at zygotene - pachytene. In plants without functional alleles (ph1bph1b), the rye telosomes displayed an aberrant morphology, their premeiotic associations were clearly disturbed and their pairing during zygotene and pachytene was reduced and irregular. The Ph1 locus also influenced the behaviour of rye telosomes in the interphase nuclei of tapetal cells: in Ph1Ph1 plants, the rye telosomes occupied distinct, parallel-oriented domains, whereas in tapetal nuclei of ph1bph1b plants they were intermingled with wheat chromosomes and showed a heavily distorted morphology. The results shed new light on the effect of Ph1, and suggest that this locus is involved in chromosome condensation and/or scaffold organisation. Our explanation might account for various apparently contradictory and pleiotropic effects of this locus on both premeiotic associations of homologues, the regulation of meiotic homo(eo)logous chromosome pairing and synapsis, the resolution of bivalent interlockings and centromere behaviour.

Cell Nucleus↗

Paintings of an artist with Alzheimer's disease: visuoconstructural deficits during dementia.

Patients suffering from Alzheimer's Dementia (AD) have increasing difficulties to orient in space and often fail to recognize basic realities and even their closest relatives. These symptoms lead to severe deterioration of everyday life and finally to total dependence. In this report we present the case of Carolus Horn, a famous german artist, who contracted with AD. The qualitative and quantitative analysis of changes in his artwork during disease progression gives an impressive insight into the patient's visual world and how it becomes increasingly affected by delusional misperceptions, spatial errors and changes of colour-perception in the course of disease. Carolus Horn's artwork lets us see the world through the patient's eyes and by that it helps us to better understand the consequences of visuospatial and cognitive changes in AD.

Alzheimer Disease↗