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Chapter 6 discusses the determination of sex and mating type, considering both chromosomal or genetic systems of sex determination and those dependent on environmental factors such as temperature or interactions with conspecific individuals, to end with cases of maternal determination of sex and so-called mixed sex-determination systems. We devote only brief notes to sexual differentiation, to conclude with the mating types of fungi and protists.
Human population cytogenetic studies have revealed that a majority of persons who are prone to developing malignant features possess chromatin bodies termed as marker dots (MDs) measuring nearly 2 to 3 microns. These MDs are seen emanating from certain specific chromosomes, which may be early indicators of neoplastic transformation within cells.
Chromosomes were counted for nine of the 24 taxa of Berberis (Berberidaceae) from Nepal, five of which were counted for the first time. The results show that all these species have somatic chromosome numbers of 2n = 28. The absence of polyploids suggests that polyploidy may not have been a major driver of speciation and diversification of Berberis in the Nepal Himalaya.
Members of the family Cimicidae (Heteroptera: Cimicomorpha) are temporary bloodsuckers on birds and bats as primary hosts and humans as secondary hosts. Acanthocrios furnarii (2n=12=10+XY, male) and Psitticimex uritui (2n=31=28+X1X2Y, male) are two monotypic genera of the subfamily Haematosiphoninae, which have achiasmatic male meiosis of collochore type. Here, we examined chromatin organization and constitution of cimicid holokinetic chromosomes by determining the amount, composition and distribution of constitutive heterochromatin, and number and location of nucleolus organizer regions (NORs) in both species. Results showed that these two bloodsucker bugs possess high heterochromatin content and have an achiasmatic male meiosis, in which three regions can be differentiated in each autosomal bivalent: (i) terminal heterochromatic regions in repulsion; (ii) a central region, where the homologous chromosomes are located parallel but without contact between them; and (iii) small areas within the central region, where collochores are detected. Acanthocrios furnarii presented a single NOR on an autosomal pair, whereas P. uritui presented two NORs, one on an autosomal pair and the other on a sex chromosome. All NORs were found to be associated with CMA3 bright bands, indicating that the whole rDNA repeating unit is rich in G+C base pairs. Based on the variations in the diploid autosomal number, the presence of simple and multiple sex chromosome systems, and the number and location of 18S rDNA loci in the two Cimicidae species studied, we might infer that rDNA clusters and genome are highly dynamic among the representatives of this family.
This paper explores evolving conceptions and depictions of the human genome among human and medical geneticists during the postwar period. Historians of science and medicine have shown significant interest in the use of informational approaches in postwar genetics, which treat the genome as an expansive digital data set composed of three billion DNA nucleotides. Since the 1950s, however, geneticists have largely interacted with the human genome at the microscopically visible level of chromosomes. Mindful of this, I examine the observational and representational approaches of postwar human and medical genetics. During the 1970s and 1980s, the genome increasingly came to be understood as, at once, a discrete part of the human anatomy and a standardised scientific object. This paper explores the role of influential medical geneticists in recasting the human genome as being a visible, tangible, and legible entity, which was highly relevant to traditional medical thinking and practice. I demonstrate how the human genome was established as an object amenable to laboratory and clinical research, and argue that the observational and representational approaches of postwar medical genetics reflect, more broadly, the interdisciplinary efforts underlying the development of contemporary biomedicine.
In this study, we present cytogenetic data regarding 66 Myzus persicae strains collected in different regions of Italy. Together with the most common 2n = 12 karyotype, the results showed different chromosomal rearrangements: 2n = 12 with A1–3 reciprocal translocation, 2n = 13 with A1–3 reciprocal translocation and A3 fission, 2n = 13 with A3 fission, 2n = 13 with A4 fission, 2n = 14 with X and A3 fissions. A 2n = 12–13 chromosomal mosaicism has also been observed. Chromosomal aberrations (and in particular all strains showing A1–3 reciprocal translocation) are especially frequent in strains collected on tobacco plants, and we suggest that a clastogenic effect of nicotine, further benefited by the holocentric nature of aphid chromosomes, could be at the basis of the observed phenomenon.
A dual cytogenetic and molecular analysis was performed in four species of Cyclocepala (Coleoptera: Scarabaeidae: Dynastinae) from Lesser Antilles (Martinique, Dominica and Guadeloupe). Two species/sub-species, C. mafaffa grandis and C. insulicola, are endemic to Guadeloupe. They have their own non-polymorphic karyotype and a fairly homogeneous haplotype of the COI gene. C. melanocephala rubiginosa has a distinct karyotype. Its COI haplotype is homogeneous in Guadeloupe and heterogeneous in Martinique. Finally, C. tridentata has highly different karyotypes and haplotypes in the three islands. In Martinique, its karyotype, composed of metacentrics, is monomorphic while its haplotype is fairly heterogeneous. Both are close to those of other Cyclocephala and Dynastinae species, thus fairly ancestral. In Guadeloupe, its karyotype is highly polymorphic, with many acrocentrics, and its haplotype fairly homogeneous. Both are highly derived. In Dominica, both the karyotype and the haplotype represent intermediate stages between those of Martinique and Guadeloupe. We conclude that several independent colonization episodes have occurred, which excludes that C. insulicola is a vicariant form of C. tridentata in Guadeloupe. Both chromosome and COI gene polymorphisms clearly indicate a recent colonization with a northward direction for C. tridentata.
Karyotype analysis and classification of buckwheat chromosomes were performed without chemical banding or staining using atomic force microscopy (AFM). Fagopyrum esculentum (common buckwheat) and Fagopyrum tartaricum (Tartarian buckwheat) chromosomes were isolated from root tissues using an enzymatic maceration technique and spread over a glass substrate. Air-dried chromosomes had a surface with ridges, and the height of common and tartary buckwheat were approximately 350 and 150 nm. Volumes of metaphase sets of buckwheat chromosomes were calculated using three-dimensional AFM measurements. Chromosomes were morphologically characterized by the size, volume, arm lengths, and ratios. The calculated volumes of the F. esculentum and F. tartaricum chromosomes were in the ranges of 1.08–2.09 μm3 and 0.49–0.78 μm3, respectively. The parameters such as the relative arm length, centromere position, and the chromosome volumes measured using AFM provide accurate karyomorphological classification by avoiding the subjective inconsistencies in banding patterns of conventional methods. The karyotype evolutionary trend indicates that F. esculentum is an ancient species compared to F. tartaricum. This is the first report of a cytological karyotype of buckwheat using AFM.
Inverted duplicated chromosome 15 (idic (15)) is the most common of the heterogeneous group of the supernumerary marker chromosomes (SMCs). The idic (15) distinct behavior disorder has been described as autistic or autistic-like. Epilepsy represents one of the main clinical challenges in idic (15) individuals. It occurs with a wide variety of seizures, with onset between ages 6 months and 9 years. Infantile spasms associated with an hypsarrhythmic electroencephalogram (EEG) have been reported in several patients. Standard cytogenetics must be associated with fluorescent in situ hybridization (FISH) analysis, using probes both from proximal chromosome 15 and from the Prader-Willi syndrome/Angelman syndrome (PWS/AS) critical region. Although brain neuroimaging (CT/MRI) is reportedly normal in most idic (15) individuals brain MRI should be performed in all those having seizures, since a malformation of the cerebral cortex may modify prognosis and management. Regular follow-up of the seizure status and pharmacotherapy is essential.
Deficits in executive function (EF) are reported to occur in individuals with Klinefelter syndrome (XXY). The degree of impairment, if any, is variable and the nature of these deficits has not been clearly elucidated in young males. In this report, we (a) examine EF skills using multiple tasks in a non-clinic referred group of youth with XXY, (b) describe the extent of EF weaknesses in XXY when this group is compared with typical males of a similar SES or typical males with similar verbal abilities, and (c) evaluate the contribution of comorbid attention-deficit/hyperactivity disorder (ADHD) to EF skills. The sample included 27 males with XXY (ages 9–25), 27 typically developing age- and vocabulary-matched males, and 22 age- and socioeconomic status-matched males. EF tasks included Verbal Fluency, the Trail Making Test, and the CANTAB Spatial Working Memory and Stockings of Cambridge tasks. Mixed model analysis of variance was used to compare the groups on EF tasks and revealed a main effect of group but no group by task interaction. Overall, the XXY group performed less well than both control groups, but performance did not differ significantly as a function of task. ADHD comorbidity in males with XXY was related to poorer EF skills. (JINS, 2011, 17, 522–530)
In cockchafers of the genus Melolontha, there is a marked intraspecific polymorphism for morphological characters, making some specimens of one species resemble another. A cytogenetic and molecular (mitochondrial COI gene sequence) study of typical and atypical forms of M. melolontha and M. hippocastani, captured at the same period and area, was performed. Karyotypes and haplotypes clearly characterize each taxon, placing atypical specimens in one or the other species unambiguously. This formally discards the role of hybridization in phenotypic resemblance, as usually proposed. Karyotypes and haplotypes were compared to those of M. pectoralis and Phyllophaga pleei, a more distantly related Melolonthinae, and some Dynastinae species, to reconstruct their ancestral karyotype. The karyotype of M. melolontha is the most derivative and that of P. pleei the most conserved among the Melolonthinae studied, which fits with the phylogeny established by COI gene analysis. Both karyotypes and COI haplotypes demonstrate the proximity of M. pectoralis and M. melolontha. The karyotype of M. melolontha is polymorphic, without relationship with morphological variations. Finally, the existence of similar morphological variations in different Melolontha species and chromosomal polymorphism in M. melolontha is discussed in relation with a network (reticulated) mode of speciation.
Antarctic plunderfishes (Notothenioidei, Artedidraconidae) are important components of the Southern Ocean fish fauna. As a contribution to the Victoria Land Transect Project, we performed a cytogenetic analysis of six species from three of the four artedidraconid genera, Artedidraco glareobarbatus, A. orianae, A. skottsbergi, A. shackletoni, Histiodraco velifer, and Pogonophryne sp. We investigated the species-specific cytogenetic features and highlighted patterns of chromosomal evolutionary change using a molecular phylogeny based on mitochondrial and nuclear genes. Despite a conserved diploid number, some important karyotypic traits account for major differences among artedidraconid species. Specific cytogenetic features, including the chromosomal organization of ribosomal genes and the occurrence of sex chromosomes, are characteristics of A. skottsbergi, making this species distinct among those studied. These chromosomal peculiarities are consistent with the phylogenetic hypothesis resolving A. skottsbergi as the sister lineage of all other Artedidraconidae. A karyological similarity was found between A. glareobarbatus and A. shackletoni consistent with their inferred sister species relationship in the phylogeny. The results indicate that artedidraconids are not conservative in their genomic organization at the chromosomal level and provide new evidence for the degree of biological diversity in this notothenioid group.
The X chromosome may be as important as the Y in determining male fertility potential. By refining the analysis of the particular recombination abnormalities in infertile men, this study confirmed that there may be decreased chromosomal pairing quality as well as recombination frequencies in men with non-obstructive azoospermia. Documentation of the normal variability in recombination is a prerequisite for the understanding of changes observed in abnormal situations, such as non-disjunction or a chromosome re-arrangement. It appears that G-group as well as sex chromosomes are most susceptible to having no recombination foci and thus are more susceptible to non-disjunction during spermatogenesis. The growing knowledge of the close relationship between germ cells and stem cells, and the successful manipulation of these cells in vitro, has tremendous implications not only for the treatment and cure of male infertility but also for a host of other medical diseases in the future.
Karyotypes for several East Pacific Rise hydrothermal vent invertebrates are described here for the first time: the vestimentiferans Riftia pachyptila and Oasisia alvinae, the alvinellid polychaetes Alvinella pompejana, A. caudata and Paralvinella grasslei, the polynoid polychaetes Branchinotogluma grasslei and Branchipolynoe symmytilida, the serpulid Laminatubus alvini and the mytilid bivalve Bathymodiolus thermophilus. For comparative purposes, the karyotype of the Atlantic vent mussel Bathymodiolus azoricus is also described here for the first time. Each species has its own unique chromosomal characteristics which can be interpreted both in terms of group characteristics and species divergence. From comparisons with published results on other vent species and closely-related coastal species, we identified a positive correlation between chromosome number variation and molecular divergence at two ribosomal ribonucleic acid gene loci (the 18S and 28S rRNA). Whilst the patterns of chromosome divergence we found were generally within the ranges previously reported for these taxonomic groupings, there was an apparent inconsistency in the case of Branchipolynoe symmytilida (EPR) and Branchipolynoe seepensis (MAR), which show a greater degree of divergence at the chromosome level compared with other members of the same genus. Moreover, polychaetes as a whole showed greater variation in the number and structural divergence of chromosomes compared to Mytilids (structural information only). Our findings highlight the great potential for chromosome analysis in future taxonomic and evolutionary studies of the deep-sea vent fauna.
Karyotypes of the hermaphroditic polychaete Hediste limnicola were examined using an air-drying method and genetic material prepared from regenerating tail and newborn juveniles. Materials were obtained from a lineage of cultured worms originating from Watsonville Slough (California, USA) and maintained for six years in the laboratory. Giemsa-stained preparations were analysed by a computer-assisted image-analysing system for the identification of each chromosome pair. A diploid chromosome number of 26 was obtained from well-spread metaphase chromosomes of mitotic cells, consisting of metacentric (N = 11), submetacentric (N = 1) and telocentric (N = 1) chromosomes. It is possible that hermaphroditism in this species evolved through loss of a pair of sex chromosomes, which are present in closely related congeneric species.
Introduction. Iran, with more than 10 species of Pyrus, is one of the important genetic resources for this genus in the world, and Fars province is one of the centers of origin. In our research, cytogenetical investigation of native wild pear species of Fars province, including P. glabra Boiss., P. syriaca Boiss. and, probably, a natural hybrid of them, (P. glabra × P syriaca), was carried out using a video analysis system. Materials and methods. Seed germination of different species was done on damp filter paper in petri dishes, and root tips were collected for karyotypical investigation. After pretreatment, fixation, hydrolysis and staining, samples were prepared for observation under the microscope and chromosome morphology was studied. Analysis of the species genome (length of each chromosome, length of long and short arm, ratio of long arm to short arm and ratio of short arm to long arm) was done and the chromosomal type of each species was determined using Levan et al.'s method. Then the karyotypic symmetry of species was studied by Stebbins' method. Results and discussion. The results revealed that all of the genotypes, with 2n = 2x = 34, were diploid. Based on Stebbins' table, genotypes 1 and 2 of P. glabra were classified into group 1A, P. glabra × P. syriaca into group 2A and P. syriaca into group 2B. Genotype plots, according to the A1 and A2 parameters and Stebbins' cross classes, revealed the same results. Similarity and differences of species in chromosomal aspects were investigated and the results shown in a dendrogram.
Observation of the internal ultrastructure of human chromosomes by transmission electron microscopy (TEM) has frequently been attempted in spite of the difficulties in detaching metaphase chromosome spreads from the glass slide for further processing. In this study we have used a method in which metaphase chromosome spreads were prepared on a flexible thermoplastic membrane (ACLAR) film. To assess chromosome identity, a diamidino-phenylindole staining and karyotying was first done using a conventional cytogenetic system. The chromosome spreads were then fixed with 1% osmium tetroxide, stained with freshly prepared 2% tannic acid, dehydrated, and flat-embedded in epoxy resin. The resin sheet was easily detachable and carried whole chromosome spreads. By this method, TEM observation of chromosomes from normal human lymphocytes allowed a thorough examination of the ultrastructure of centromeres, telomeres, fragile sites, and other chromosomal regions. Various ultrastructural patterns including thick electron dense boundaries, less dense internal regions, and extended chromatin loops at the periphery of the chromosomes were discernible. Application of the present method to chromosome research is expected to provide comprehensive information on the internal ultrastructure of different chromosomal regions in relation to function.
The aetiology of otosclerosis is complex, and probably involves an interaction between genes and environmental factors. Previous studies have revealed genetic linkage with a number of chromosome regions, including position 7q33–36.
To confirm whether linkage exists between otosclerosis and chromosome region 7q33–36.
Materials and methods:
Seven multiply affected families were ascertained. Deoxyribonucleic acid from members of these families was extracted, and six markers were genotyped to cover a 16 cM region at 7q33–36. Both parametric and non-parametric multipoint linkage analyses were performed.
Parametric multipoint linkage analysis excluded any linkage at 7q33–36 (logarithm of odds score <−4.0). Non-parametric linkage analysis also failed to confirm any linkage (non-parametric linkage < 1.66). When tested individually, pedigree four was the only one to show a significant non-parametric linkage score between D7s684 and D7s2513 (non-parametric linkage = 1.96).
No linkage was detected between otosclerosis and the 7q33–36 region. This could be explained by the study's lack of power, due to the limited number of families available.
Many avian species are considered sexually monomorphic. In monomorphic bird species, especially in young birds, sex is difficult to identify based on an analysis of their external morphology. For nestlings, sex identification is usually impossible by morphological examination. Sex identification in avian species is one of the key points of avian breeding and evolutionary studies. Through the knowledge of sex identification genes, poultry breeding programmes can be applied more successfully. Vent sexing, laparoscopy, steroid sexing and karyotyping are methods for sex identification used in monomorphic birds. However these methods are unreliable, time-consuming, and expensive while some of them could be painful and even lifethreatening for birds. The sex of an individual is established from the genes located on sex chromosomes. Female birds carry one copy of both Z and W, and male birds carry two copies of Z avian sex chromosomes. However, there are many DNA techniques, the most reliable one is amplifying sex specific CHD1 gene by P2 – P8 primer pairs.
Aims: To identify subgroups of patients with squamous cell carcinoma (SCC) of the larynx, characterized by the specific deregulation mechanism of the epidermal growth factor receptor (EGFR) gene, and to evaluate EGFR protein expression levels and correlate these with biological and clinicopathological parameters.
Materials and methods: Using tissue microarray technology, 50 formalin-fixed, paraffin-embedded primary laryngeal SCCs were cored and re-embedded into one block. Immunohistochemistry and chromogenic in situ hybridization were performed.
Results: Epidermal growth factor receptor protein over-expression was observed in 27/50 (54 per cent) cases and was statistically associated with tumour grade (p=0.028). Epidermal growth factor receptor gene alterations were identified in 5/50 (10 per cent) cases, which demonstrated amplification (n=4) and deletion (n=1). Chromosome 7 instability was detected in 8/50 (16 per cent) cases.
Conclusions: Epidermal growth factor receptor over-expression is a frequent event in SCCs, but it does not predict a specific molecular mechanism of gene deregulation for targeted therapeutic strategies via monoclonal antibodies.