Comparative cytogenetic mapping reveals chromosome rearrangements between the X chromosomes of two closely related mammalian species (cattle and goats)

1998 ◽  
Vol 81 (1) ◽  
pp. 36-41 ◽  
Author(s):  
F. Piumi ◽  
L. Schibler ◽  
D. Vaiman ◽  
A. Oustry ◽  
E.P. Cribiu
Keyword(s):  
Mammalian Species ◽  
Chromosome Rearrangements ◽  
Cytogenetic Mapping ◽  
X Chromosomes

scholarly journals SITE-SPECIFIC INSTABILITY IN DROSOPHILA MELANOGASTER: EVIDENCE FOR TRANSPOSITION OF DESTABILIZING ELEMENT

Genetics ◽  
1982 ◽  
Vol 101 (3-4) ◽  
pp. 461-476
Author(s):  
Todd R Laverty ◽  
J K Lim
Keyword(s):  
Drosophila Melanogaster ◽  
X Chromosome ◽  
Lethal Mutation ◽  
Chromosome Rearrangements ◽  
Chromosome Break ◽  
Secondary Mutation ◽  
X Chromosomes ◽  
Site Specific ◽  
Normal Sequence ◽  
Lethal Mutations

ABSTRACT In this study, we show that at least one lethal mutation at the 3F-4A region of the X chromosome can generate an array of chromosome rearrangements, all with one chromosome break in the 3F-4A region. The mutation at 3F-4A (secondary mutation) was detected in an X chromosome carrying a reverse mutation of an unstable lethal mutation, which was mapped in the 6F1-2 doublet (primary mutation). The primary lethal mutation at 6F1-2 had occurred in an unstable chromosome (Uc) described previously (Lim 1979). Prior to reversion, the 6F1-2 mutation had generated an array of chromosome rearrangements, all having one break in the 6F1-2 doublet (Lim 1979, 1980). In the X chromosomes carrying the 3F-4A secondary lethal mutation the 6F1-2 doublet was normal and stable, as was the 3F-4A region in the X chromosome carrying the primary lethal mutation. The disappearance of the instability having a set of genetic properties at one region (6F1-2) accompanied by its appearance elsewhere in the chromosome (3F-4A) implies that a transposition of the destabilizing element took place. The mutant at 3F-4A and other secondary mutants exhibited all but one (reinversion of an inversion to the normal sequence) of the eight properties of the primary lethal mutations. These observations support the view that a transposable destabilizing element is responsible for the hypermutability observed in the unstable chromosome and its derivaties.

Assignment of chromosome rearrangements between X chromosomes of human and cattle by laser microdissection and Zoo-FISH

2005 ◽  
Vol 13 (6) ◽  
pp. 569-574 ◽  
Author(s):  
Jiri Rubes ◽  
Svatava Kubickova ◽  
Petra Musilova ◽  
M. Elisabete Amaral ◽  
Ronald M. Brunner ◽  
...  
Keyword(s):  
Laser Microdissection ◽  
Chromosome Rearrangements ◽  
X Chromosomes

scholarly journals Investigation of intersexual polled goats

2015 ◽  
pp. 11-15
Author(s):  
Judit Bordán ◽  
András Kovács ◽  
Szilárd Bodó
Keyword(s):  
Sex Ratio ◽  
Mammalian Species ◽  
Sex Reversal ◽  
Ovary Development ◽  
X Chromosomes ◽  
Ovary Cells ◽  
Male Sex ◽  
Sox9 Gene ◽  
Foxl2 Gene

The sex reversal may occur in all mammalian species, but is connected to a favourable trait – the polledness – only in the goat. Later abnormal sex ratio was noticed in these goat populations, in which a part of the phenotypically male individuals was sterile. These males have two X chromosomes. In goats the PIS (Polled Intersex Syndrome) mutation is responsible for the absence of horns in homozygous and heterozygous individuals. This same mutation causes a female-to-male sex reversal, but only in the homozygous polled genetic female goats. The PIS mutation inhibits the expression of the FOXL2 gene which is responsible for ovary development, and a protein encoded by this gene inhibits the activity of the Sox9 gene. The Sox9 gene stimulates the development of the cells of the testis. When the FOXL2 gene is inhibited, the Sox9 gene is activated and transforms the ovary cells into testis cells. In our article we briefly introduce the morphological and chromosome investigations of three intersex individuals we found.

Methylation of the mouse hprt gene differs on the active and inactive X chromosomes

1986 ◽  
Vol 6 (3) ◽  
pp. 914-924
Author(s):  
L F Lock ◽  
D W Melton ◽  
C T Caskey ◽  
G R Martin
Keyword(s):  
Mammalian Species ◽  
Differential Methylation ◽  
X Inactivation ◽  
Hprt Gene ◽  
Regulation Of Expression ◽  
Female Embryo ◽  
X Chromosomes ◽  
Mus Caroli ◽  
Clonal Cell Lines ◽  
Exon 9

It has been proposed that DNA methylation is involved in the mechanism of X inactivation, the process by which equivalence of levels of X-linked gene products is achieved in female (XX) and male (XY) mammals. In this study, Southern blots of female and male DNA digested with methylation-sensitive restriction endonucleases and hybridized to various portions of the cloned mouse hprt gene were compared, and sites within the mouse hprt gene were identified that are differentially methylated in female and male cells. The extent to which these sites are methylated when carried on the active and inactive X chromosomes was directly determined in a similar analysis of DNA from clonal cell lines established from a female embryo derived from a mating of two species of mouse, Mus musculus and Mus caroli. The results revealed two regions of differential methylation in the mouse hprt gene. One region, in the first intron of the gene, includes four sites that are completely unmethylated when carried on the active X and extensively methylated when carried on the inactive X. These same sites are extensively demethylated in hprt genes reactivated either spontaneously or after 5-azacytidine treatment. The second region includes several sites in the 3' 20kilobases of the gene extending from exon 3 to exon 9 that show the converse pattern; i.e., they are completely methylated when carried on the active X and completely unmethylated when carried on the inactive X. At least one of these sites does not become methylated after reactivation of the gene. The results of this study, together with the results of previous studies by others of the human hprt gene, indicate that these regions of differential methylation on the active and inactive X are conserved between mammalian species. Furthermore, the data described here are consistent with the idea that at least the sites in the 5' region of the gene play a role in the X inactivation phenomenon and regulation of expression of the mouse hprt gene.

scholarly journals Comparative Cytogenetic Mapping and Telomere Analysis Provide Evolutionary Predictions for Devil Facial Tumour 2

Genes ◽  
2020 ◽  
Vol 11 (5) ◽  
pp. 480
Author(s):  
Emory D. Ingles ◽  
Janine E. Deakin
Keyword(s):  
Telomere Length ◽  
Bimodal Distribution ◽  
Chromosome Rearrangements ◽  
Chromosome 1 ◽  
Dicentric Chromosome ◽  
Tasmanian Devil ◽  
Cytogenetic Mapping ◽  
Evolutionary Trajectory ◽  
Origin And Evolution ◽  
Dicentric Chromosomes

The emergence of a second transmissible tumour in the Tasmanian devil population, devil facial tumour 2 (DFT2), has prompted questions on the origin and evolution of these transmissible tumours. We used a combination of cytogenetic mapping and telomere length measurements to predict the evolutionary trajectory of chromosome rearrangements in DFT2. Gene mapping by fluorescence in situ hybridization (FISH) provided insight into the chromosome rearrangements in DFT2 and identified the evolution of two distinct DFT2 lineages. A comparison of devil facial tumour 1 (DFT1) and DFT2 chromosome rearrangements indicated that both started with the fusion of a chromosome, with potentially critically short telomeres, to chromosome 1 to form dicentric chromosomes. In DFT1, the dicentric chromosome resulted in breakage–fusion–bridge cycles leading to highly rearranged chromosomes. In contrast, the silencing of a centromere on the dicentric chromosome in DFT2 stabilized the chromosome, resulting in a less rearranged karyotype than DFT1. DFT2 retains a bimodal distribution of telomere length dimorphism observed on Tasmanian devil chromosomes, a feature lost in DFT1. Using long term cell culture, we observed homogenization of telomere length over time. We predict a similar homogenization of telomere lengths occurred in DFT1, and that DFT2 is unlikely to undergo further substantial rearrangements due to maintained telomere length.

scholarly journals THE X CHROMOSOMES OF MAMMALS: KARYOLOGICAL HOMOLOGY AS REVEALED BY BANDING TECHNIQUES

Genetics ◽  
1974 ◽  
Vol 78 (2) ◽  
pp. 703-714
Author(s):  
Sen Pathak ◽  
A Dean Stock
Keyword(s):  
X Chromosome ◽  
Constitutive Heterochromatin ◽  
Mammalian Species ◽  
Chromosome Segment ◽  
Haploid Genome ◽  
Giemsa Banding ◽  
Standard Type ◽  
Banding Patterns ◽  
X Chromosomes ◽  
Autosome Translocation

ABSTRACT A comparison of the Giemsa-banding patterns of the X chromosomes in various mammalian species including man indicates that two major bands (A and B), which are resistant to trypsin and urea-treatments, are always present irrespective of the gross morphology of the X chromosomes. This is true in all mammalian species with the "original or standard type" X chromosomes (5-6% of the haploid genome) thus far analyzed. In the unusually large-sized X chromosomes the extra chromosomal material may be due either to the addition of genetically inert constitutive heterochromatin or to an X-autosome translocation. In these X chromosomes two major bands are present in the actual X-chromosome segment. Our data on C and G band patterns also support Ohno's hypothesis that the mammalian X chromosome is extremely conservative in its genetic content, in spite of its cytogenetic variability.

scholarly journals Methylation of the mouse hprt gene differs on the active and inactive X chromosomes.

1986 ◽  
Vol 6 (3) ◽  
pp. 914-924 ◽  
Author(s):  
L F Lock ◽  
D W Melton ◽  
C T Caskey ◽  
G R Martin
Keyword(s):  
Mammalian Species ◽  
Differential Methylation ◽  
X Inactivation ◽  
Hprt Gene ◽  
Regulation Of Expression ◽  
Female Embryo ◽  
X Chromosomes ◽  
Mus Caroli ◽  
Clonal Cell Lines ◽  
Exon 9

It has been proposed that DNA methylation is involved in the mechanism of X inactivation, the process by which equivalence of levels of X-linked gene products is achieved in female (XX) and male (XY) mammals. In this study, Southern blots of female and male DNA digested with methylation-sensitive restriction endonucleases and hybridized to various portions of the cloned mouse hprt gene were compared, and sites within the mouse hprt gene were identified that are differentially methylated in female and male cells. The extent to which these sites are methylated when carried on the active and inactive X chromosomes was directly determined in a similar analysis of DNA from clonal cell lines established from a female embryo derived from a mating of two species of mouse, Mus musculus and Mus caroli. The results revealed two regions of differential methylation in the mouse hprt gene. One region, in the first intron of the gene, includes four sites that are completely unmethylated when carried on the active X and extensively methylated when carried on the inactive X. These same sites are extensively demethylated in hprt genes reactivated either spontaneously or after 5-azacytidine treatment. The second region includes several sites in the 3' 20kilobases of the gene extending from exon 3 to exon 9 that show the converse pattern; i.e., they are completely methylated when carried on the active X and completely unmethylated when carried on the inactive X. At least one of these sites does not become methylated after reactivation of the gene. The results of this study, together with the results of previous studies by others of the human hprt gene, indicate that these regions of differential methylation on the active and inactive X are conserved between mammalian species. Furthermore, the data described here are consistent with the idea that at least the sites in the 5' region of the gene play a role in the X inactivation phenomenon and regulation of expression of the mouse hprt gene.

The parent-offspring microbiome and neurobehavioral development

2019 ◽  
Vol 42 ◽  
Author(s):  
Jeffrey R. Alberts ◽  
Christopher Harshaw ◽  
Gregory E. Demas ◽  
Cara L. Wellman ◽  
Ardythe L. Morrow
Keyword(s):  
Mammalian Species ◽  
Social Emotional ◽  
Behavioral Measures ◽  
Neurobehavioral Development ◽  
Emotional Function ◽  
Neurobehavioral Outcomes ◽  
Methodological Approaches ◽  
And Behavior

Abstract We identify the significance and typical requirements of developmental analyses of the microbiome-gut-brain (MGB) in parents, offspring, and parent-offspring relations, which have particular importance for neurobehavioral outcomes in mammalian species, including humans. We call for a focus on behavioral measures of social-emotional function. Methodological approaches to interpreting relations between the microbiota and behavior are discussed.

High-voltage EM description of the types and distribution of sensory endings in the inner conical body of the rat vibrissal follicle-sinus complex

1990 ◽  
Vol 48 (3) ◽  
pp. 410-411
Author(s):  
Tony M. Mosconi ◽  
Min J. Song ◽  
Frank L. Rice
Keyword(s):  
Mammalian Species ◽  
Dorsal Side ◽  
Hair Shaft ◽  
Sensory Innervation ◽  
Conical Body ◽  
Adult Rats ◽  
Perpendicular Plane ◽  
Ultrastructural Studies ◽  
Unmyelinated Axons ◽  
Sensory Endings

Whiskers or vibrissal follicle-sinus complexes (F-SCs) on the snouts of many mammalian species are structures that have complex, dense sensory innervation. The innervation of F-SCs is remarkably similar in all species with the exception of one site - the inner conical body (ICB). The ICB is an elongated cylindrical structure that encircles the hair shaft near the neck of the follicle. This site has received only cursory attention in ultrastructural studies of the F-SCAdult rats were perfused after the method of Renehan and Munger2. F-SCs were quartered longitudinally and embedded separately in Epon-Araldite. Serial 0.25 μm sections were cut in either the longitudinal or perpendicular plane through the ICB and examined with an AEI EM7 1.2 MV HVEM (Albany, NY) at 1000 KV. Sensory endings were reconstructed from serial micrographs through at least 20 μm in the longitudinal plane and through 10 μm in the perpendicular plane.From two to six small superficial vibrissal nerves converge upon the neck of the F-SC and descend into the ICB. The nerves branch into smaller bundles of myelinated and unmyelinated axons along the dorsal side of the hair shaft.

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