Connections between sister and non-sister telomeres of segregating chromatids maintain euploidy

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Inducible resistance to zinc ions in Bacillus subtilis 168

Abstract Chromosomally determined resistance to Zn²⁺ ions is a property of Bacillus subtilis 168. Resistance is inducible and is not connected with Cd²⁺ resistance, characteristics of plasmid determined resistance in bacteria. A few proteins were shown to respond to inducible levels of the cation.     

A case‐control study of brain structure and behavioral characteristics in 47,XXX syndrome

Trisomy X, the presence of an extra X chromosome in females (47,XXX), is a relatively common but under‐recognized chromosomal disorder associated with characteristic cognitive and behavioral features of varying severity. The objective of this study was to determine whether there were neuroanatomical differences in girls with Trisomy X that could relate to cognitive and behavioral differences characteristic of the disorder during childhood and adolescence. MRI scans were obtained on 35 girls with Trisomy X (mean age 11.4, SD 5.5) and 70 age‐ and sex‐matched healthy controls. Cognitive and behavioral testing was also performed. Trisomy X girls underwent a semi‐structured psychiatric interview. Regional brain volumes and cortical thickness were compared between the two groups. Total brain volume was significantly decreased in subjects with Trisomy X, as were all regional volumes with the exception of parietal gray matter. Differences in cortical thickness had a mixed pattern. The subjects with Trisomy X had thicker cortex in bilateral medial prefrontal cortex and right medial temporal lobe, but decreased cortical thickness in both lateral temporal lobes. The most common psychiatric disorders present in this sample of Trisomy X girls included anxiety disorders (40%), attention‐deficit disorder (17%) and depressive disorders (11%). The most strongly affected brain regions are consistent with phenotypic characteristics such as language delay, poor executive function and heightened anxiety previously described in population‐based studies of Trisomy X and also found in our sample.     

Phylogeny, taxonomy, and evolution of the endothelin receptor gene family

A gene phylogeny provides the natural historical order to classify genes and to understand their functional, structural, and genomic diversity. The gene family of endothelin receptors (EDNR) is responsible for many key physiological and developmental processes of tetrapods and teleosts. This study provides a well-defined gene phylogeny for the EDNR family, which is used to classify its members and to assess their evolution. The EDNR phylogeny supports the recognition of the EDNRA, EDNRB, and EDNRC subfamilies, as well as more lineage-specific duplicates of teleosts and the African clawed frog. The duplications for these nominal genes are related to the various whole-genome amplifications of vertebrates, jawed vertebrates, fishes, and frog. The EDNR phylogeny also identifies several gene losses, including that of EDNRC from placental and marsupial (therian) mammals. When coupled with structural and biochemical information, site-specific analyses of evolutionary rate shifts reveal two distinct patterns of potential functional changes at the sequence level between therian versus non-therian EDNRA and EDNRB (i.e., between groups without and with EDNRC). An analysis of linkage maps and tetrapod synteny further suggests that the loss of therian EDNRC may be related to a chromosomal deletion in its common ancestor.     

Micronuclei from misaligned chromosomes that satisfy the spindle assembly checkpoint in cancer cells

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Aneuploidy in metaphases II of spermatocytes of wild house mice from a hybrid zone between a Robertsonian population (CD: 2n = 22) and a population with the standard karyotype (2n = 40)

Meiotic metaphases II from archival slides were studied of male house mice caught in a hybrid zone between a population monomorphic for nine centric fusions (2n = 22) and a population with the standard karyotype (2n = 40), near Rome. The frequency of aneuploidy increases, up to 50%, with increasing number of heterozygous centric fusions (1–4). This revised version was published online in July 2006 with corrections to the Cover Date.     

Aneuploid spermatozoa in infertile men: teratozoospermia.

We and others have demonstrated that infertile men who are candidates for intracytoplasmic sperm injection (ICSI) have an increased frequency of chromosomal abnormalities in their sperm. Reports based on prenatal diagnosis of ICSI pregnancies have confirmed the increased frequency of chromosomal abnormalities in offspring. Most studies to date have lumped various types of infertility together. However, it is quite likely that some subsets of infertility have an increased risk of sperm chromosomal abnormalities whereas others do not. We have studied nine men with severe teratozoospermia (WHO, 1992 criteria, 0-13% morphologically normal forms) by multicolour fluorescence in situ hybridisation (FISH) analysis to determine if they have an increased frequency of disomy for chromosomes 13, 21, XX, YY, and XY, as well as diploidy. All of the men also had aesthenozoospermia (< 50% forward progression) but none of the men had oligozoospermia (<20 x 10(6) sperm/ml). The patients ranged in age from 20 to 49 years (mean 33.2 years) in comparison to 18 normal control donors who were 23 to 58 years (mean 35.6 years). The control donors had normal semen parameters and no history of infertility. A total of 180,566 sperm were scored in the teratozoospermic men with a minimum of 10,000 sperm analyzed/donor/chromosome probe. There was a significant increase in the frequency of disomy in teratozoospermic men compared to controls for chromosomes 13 (.23 vs.13%), XX (.13 vs.05%), and XY (.50 vs.30%) (P <.0001, 2-tailed Z statistic). This study indicates that men with teratozoospermia and aesthenozoospermia but with normal concentrations of sperm have a significantly increased frequency of sperm chromosomal abnormalities.     

Nonisotopic in situ hybridization as a method for nondisjunction studies in human spermatozoa

Human spermatozoa were studied with a nonradioactive in situ hybridization method. Using a chemically modified DNA probe and immunocytochemical reactions for visualization, it was possible to obtain hybridization signals in 31 of 32 semen samples. Positive hybridization reactions, depending on cell accessibility, varied from 40% to over 90% for the different samples. Using a chromosome 1-specific DNA probe, disomy for this chromosome was found in 0.67% of all accessible sperm cells.