Turtles, a speciose group consisting of more than 300 species, demonstrate karyotypes with diploid chromosome numbers ranging from 2n = 26 to 2n = 68. However, cytogenetic analyses have been conducted only to 1/3rd of the turtle species, often limited to conventional staining methods. In order to expand our knowledge of the karyotype evolution in turtles, we examined the topology of the (TTAGGG)n telomeric repeats and the rDNA loci by fluorescence in situ hybridization (FISH) on the karyotypes of two emydids: the Sicilian pond turtle, Emys trinacris, and the yellow-bellied slider, Trachemys scripta scripta (family Emydidae). Furthermore, AT-rich and GC-rich chromosome regions were detected by DAPI and CMA3 stains, respectively. The cytogenetic analysis revealed that telomeric sequences are restricted to the terminal ends of all chromosomes and the rDNA loci are localized in one pair of microchromosomes in both species. The karyotype of the Sicilian endemic E. trinacris with diploid number 2n = 50, consisting of 13 pairs of macrochromosomes and 12 pairs of microchromosomes, is presented here for first time. Our comparative examination revealed similar cytogenetic features in Emys trinacris and the closely related E. orbicularis, as well as to other previously studied emydid species, demonstrating a low rate of karyotype evolution, as chromosomal rearrangements are rather infrequent in this group of turtles.
- MeSH
- cytogenetika metody MeSH
- hybridizace in situ fluorescenční metody MeSH
- karyotyp * MeSH
- molekulární evoluce * MeSH
- ribozomální DNA genetika MeSH
- telomery genetika MeSH
- želvy genetika MeSH
- zvířata MeSH
- Check Tag
- ženské pohlaví MeSH
- zvířata MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
Chromozomové aberace hrají významnou roli v patogenezi a vývoji chronické lymfocytární leukemie (CLL), charakterizují průběh onemocnění a mají vliv na volbu léčebné strategie. Mezi změny se známým prognostickým významem patří delece oblastí 11q, 13q, 17p a trizomie chromozomu 12. V poslední době je velmi diskutován význam dalších rekurentních cytogenetických aberací, jako jsou např. zmnožení 2p, delece 6q21, duplikace 8q24, přestavby 14q32 a komplexní karyotyp. Chromozomové aberace detekujeme metodami klasického G-pruhování, fluorescenční in situ hybridizací (FISH) a v některých případech doplňující metodou array komparativní genomické hybridizace (arrayCGH). Zavedení metody sekvenování nové generace (NGS) vedlo v posledních letech k identifikaci genových mutací (zejména TP53, NOTCH1, SF3B1 a BIRC3), které zpřesnily stratifikaci pacientů a ovlivňují volbu léčebné strategie. Prognostické a prediktivní modely vzniklé kombinací všech uvedených metod by do budoucna měly lépe vypovídat o dynamice průběhu onemocnění a klonálním vývoji a měly by vést ke zpřesnění stanovení odpovědi na léčbu a přežití nemocných.
Chromosomal aberrations play an important role in the pathogenesis and development of chronic lymphocytic leukaemia (CLL). They characterize the course of the disease and influence decisions regarding treatment. Aberrations with well-known prognostic significance include deletions of regions 11q, 13q, 17p and trisomy of chromosome 12. The importance of other recurrent cytogenetic abnormalities, such as duplications of 2p or 8q24, deletion of 6q21, translocations of 14q32 and complex karyotype have recently come under closer scrutiny. Chromosome aberrations are detected by classical G-banding, fluorescent in situ hybridization (FISH) and in some cases by contemporary array comparative genomic hybridization (arrayCGH). The implementation of next generation sequencing (NGS) has helped identify new gene mutations (particularly TP53, NOTCH1, SF3B1 and BIRC3), which refine patient stratification and influence the choice of treatment strategy. In future, prognostic and predictive models resulting from the combination of all mentioned methods will better reflect disease dynamics and clonal evolution and lead to a more accurate assessment of treatment response and survival.
The bighead carps of the genus Hypophthalmichthys (H. molitrix and H. nobilis) are important aquaculture species. They were subjected to extensive multidisciplinary research, but with cytogenetics confined to conventional protocols only. Here, we employed Giemsa-/C-/CMA3- stainings and chromosomal mapping of multigene families and telomeric repeats. Both species shared (i) a diploid chromosome number 2n = 48 and the karyotype structure, (ii) low amount of constitutive heterochromatin, (iii) the absence of interstitial telomeric sites (ITSs), (iv) a single pair of 5S rDNA loci adjacent to one major rDNA cluster, and (v) a single pair of co-localized U1/U2 snDNA tandem repeats. Both species, on the other hand, differed in (i) the presence/absence of remarkable interstitial block of constitutive heterochromatin on the largest acrocentric pair 11 and (ii) the number of major (CMA3-positive) rDNA sites. Additionally, we applied here, for the first time, the conventional cytogenetics in H. harmandi, a species considered extinct in the wild and/or extensively cross-hybridized with H. molitrix. Its 2n and karyotype description match those found in the previous two species, while silver staining showed differences in distribution of major rDNA. The bighead carps thus represent another case of taxonomic diversity not associated with gross karyotype differentiation, where 2n and karyotype structure cannot help in distinguishing between genomes of closely related species. On the other hand, we demonstrated that two cytogenetic characters (distribution of constitutive heterochromatin and major rDNA) may be useful for diagnosis of pure species. The universality of these markers must be further verified by analyzing other pure populations of bighead carps.
- MeSH
- buněčná diferenciace genetika MeSH
- cytogenetika metody MeSH
- fylogeneze * MeSH
- genetická variace genetika MeSH
- heterochromatin genetika MeSH
- hybridizace in situ fluorescenční MeSH
- kapři genetika MeSH
- karyotyp * MeSH
- karyotypizace metody MeSH
- mapování chromozomů MeSH
- ribozomální DNA genetika MeSH
- tandemové repetitivní sekvence genetika MeSH
- zvířata MeSH
- Check Tag
- zvířata MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
Recent evidence suggests that complex karyotype (CK) defined by the presence of ≥3 chromosomal aberrations (structural and/or numerical) identified by using chromosome-banding analysis (CBA) may be relevant for treatment decision-making in chronic lymphocytic leukemia (CLL). However, many challenges toward the routine clinical application of CBA remain. In a retrospective study of 5290 patients with available CBA data, we explored both clinicobiological associations and the clinical impact of CK in CLL. We found that patients with ≥5 abnormalities, defined as high-CK, exhibit uniformly dismal clinical outcomes, independently of clinical stage, TP53 aberrations (deletion of chromosome 17p and/or TP53 mutations [TP53abs]), and the expression of somatically hypermutated (M-CLL) or unmutated immunoglobulin heavy variable genes. Thus, they contrasted with CK cases with 3 or 4 aberrations (low-CK and intermediate-CK, respectively) who followed aggressive disease courses only in the presence of TP53abs. At the other end of the spectrum, patients with CK and +12,+19 displayed an exceptionally indolent profile. Building upon CK, TP53abs, and immunoglobulin heavy variable gene somatic hypermutation status, we propose a novel hierarchical model in which patients with high-CK exhibit the worst prognosis, whereas those with mutated CLL lacking CK or TP53abs, as well as CK with +12,+19, show the longest overall survival. Thus, CK should not be axiomatically considered unfavorable in CLL, representing a heterogeneous group with variable clinical behavior. High-CK with ≥5 chromosomal aberrations emerges as prognostically adverse, independent of other biomarkers. Prospective clinical validation is warranted before ultimately incorporating high-CK in risk stratification of CLL.
- MeSH
- chromozomální aberace * MeSH
- chronická lymfatická leukemie genetika mortalita patologie MeSH
- cytogenetika metody MeSH
- lidé středního věku MeSH
- lidé MeSH
- míra přežití MeSH
- mutace * MeSH
- nádorové biomarkery genetika MeSH
- nádorový supresorový protein p53 genetika MeSH
- následné studie MeSH
- prognóza MeSH
- retrospektivní studie MeSH
- senioři MeSH
- somatická hypermutace imunoglobulinových genů genetika MeSH
- Check Tag
- lidé středního věku MeSH
- lidé MeSH
- mužské pohlaví MeSH
- senioři MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
The history and value of cytogenetic features for addressing questions of the evolution and systematics of tapeworms (Cestoda) are briefly reviewed along with instructions for collecting karyological data. As a supplement to worm morphology, chromosome number and morphology have been helpful in determining the systematic status of some genera in the Diphyllobothriidae and species in the Bothriocephallidea. In addition, many new techniques for chromosome analysis have been recently applied in morphological and molecular studies of invertebrates, including tapeworms. Methods of molecular karyology, fluorescence in situ hybridisation, and chromosomal location of satellite DNA, microsatellites or histone genes may also provide useful data to inference of taxonomic relationships and for revealing trends or general lines of chromosome evolution. However, as karyological data are available only for few tapeworms, they are seldom an integral part of evolutionary and taxonomic studies of cestodes. A primary reason for this lack of karyological data may lie in general difficulties in working with tapeworm chromosomes. To address these problems, herein we present a well-tested, step-by-step illustrated guide on the fixation of tapeworm material and preparation of their chromosomes for cytogenetic studies. The technique requires standard glassware, few reagents and simple equipment such as needles; it can also be used on other neodermatan flatworms.
- MeSH
- Cestoda klasifikace genetika MeSH
- chromozomy * MeSH
- cytogenetika metody MeSH
- parazitologie metody MeSH
- zvířata MeSH
- Check Tag
- zvířata MeSH
- Publikační typ
- časopisecké články MeSH
BACKGROUND: To obtain better insight into the biology of acute myeloid leukemia (AML) in various age groups, this study focused on the genetic changes occurring during a lifetime. METHODS: This study analyzed the relation between age and genetics from birth to 100 years in 5564 patients with de novo AML diagnosed from 1998 to 2012 (1192 patients from nationwide pediatric studies [AML Berlin-Frankfurt-Münster studies 98 and 2004] and 4372 adults registered with the Munich Leukemia Laboratory). RESULTS: The frequencies of cytogenetic subgroups were age-dependent. Favorable subtypes (t(8;21), inv(16)/t(16;16), and t(15;17)) decreased in general from the pediatric age group (2 to < 18 years; 33%) to the oldest groups (<5% for > 70 years; P < .0001). Unfavorable cytogenetics (-7/del(7), -5/del(5q) or 5p, inv(3)/t(3;3), t(6;9), complex karyotype, 12p, 17p, and 11q23/mixed-lineage leukemia aberrations, excluding t(9;11)) were frequent (42%) in infants (<2 years), had a low frequency in children and young adults (<22%), and increased in frequency up to 36% in patients older than 85 years (P = .01). This was even more significant for complex karyotypes (P ≤ .0001), which also showed a strong increase in the absolute age-specific incidence with age. Interestingly, the frequency of 11q23 abnormalities decreased from infants to older patients. The proportion of clinically relevant molecular aberrations of CCAAT/enhancer binding protein α, nucleophosmin (NPM1), and NPM1/fms-related tyrosine kinase 3-internal tandem duplication increased with age. CONCLUSIONS: Altogether, with the exclusion of infants, a significant decrease in the proportion of favorable cytogenetic subtypes and an increase in unfavorable cytogenetics were observed with increasing age. These findings indicate different mechanisms for the pathogenesis of AML; these different mechanisms also suggest directions for etiological research and contribute to the more unfavorable prognosis with increasing age. Cancer 2016;122:3821-3830. © 2016 American Cancer Society.
- MeSH
- akutní myeloidní leukemie genetika patologie MeSH
- chromozomální aberace MeSH
- cytogenetické vyšetření metody MeSH
- cytogenetika metody MeSH
- dítě MeSH
- dospělí MeSH
- karyotypizace MeSH
- kojenec MeSH
- lidé středního věku MeSH
- lidé MeSH
- mladiství MeSH
- mladý dospělý MeSH
- molekulární biologie metody MeSH
- novorozenec MeSH
- předškolní dítě MeSH
- prognóza MeSH
- senioři nad 80 let MeSH
- senioři MeSH
- Check Tag
- dítě MeSH
- dospělí MeSH
- kojenec MeSH
- lidé středního věku MeSH
- lidé MeSH
- mladiství MeSH
- mladý dospělý MeSH
- mužské pohlaví MeSH
- novorozenec MeSH
- předškolní dítě MeSH
- senioři nad 80 let MeSH
- senioři MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- MeSH
- chronická lymfatická leukemie terapie MeSH
- cytogenetika metody MeSH
- dospělí MeSH
- homologní transplantace MeSH
- lidé středního věku MeSH
- lidé MeSH
- nemoc štěpu proti hostiteli MeSH
- přežití bez známek nemoci MeSH
- příprava pacienta k transplantaci MeSH
- prognóza MeSH
- recidiva MeSH
- retrospektivní studie MeSH
- senioři MeSH
- transplantace hematopoetických kmenových buněk MeSH
- výsledek terapie MeSH
- Check Tag
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- mužské pohlaví MeSH
- senioři MeSH
- ženské pohlaví MeSH
