InversionsChromosomal aberrationsGenesIntracytoplasmic Sperm InjAbnormalityWhole chromosomeGeneAbnormalitiesGenomeDuplicationsBreakpointsCytogeneticallyGeneticMorphologyCapacitationStructuralDeletionZygoteAcrosomeReproductiveOrganismMethodologyVitroArrowsMalesConsistsInfertilityMolecularAffectsNuclearClinicalHumanCellProteinTestPossibilitySmallTranscriptionWhite bloodSingleChangeLevelLengthRegionFormationCompleteEffectsDamageFISH
Inversions2
- This is because balanced chromosomal abnormalities such as reciprocal translocations, inversions or ring chromosomes do not affect copy number, which is what is detected by CGH technologies. (wikipedia.org)
- The transcription units are shown above the genomic DNA, while chromosomal aberrations are shown below (solid triangles indicate insertions of transposable elements and upward arrows indicate breakpoints of translocations and inversions). (nih.gov)
Chromosomal aberrations9
- Down syndrome), or smaller, sub-chromosomal aberrations (e.g. (identifai-genetics.com)
- We used a large number of existing chromosomal aberrations in the Scr homeotic gene to investigate the functions of the cis -acting elements within the endogenous gene. (nih.gov)
- The chromosomal aberrations identified an imaginal leg enhancer about 35 kb upstream of the Scr promoter. (nih.gov)
- Chromosomal aberrations ( red ) interfere with silencing in the adult second and third legs. (nih.gov)
- Thousands of chromosomal aberrations have been discovered in different types of cancer. (schleiden-eifel.de)
- Changes in the structure or quantity of chromosomes , which are strands of condensed genetic material, are known as chromosomal aberrations or abnormalities. (schleiden-eifel.de)
- Chromosomal aberrations . (schleiden-eifel.de)
- Chromosomal aberrations and their mechanisms have been studied for many years in livestock. (schleiden-eifel.de)
- The frequency of ICF cells with chromosomal aberrations seems to increase with passage number, 3,4,40 although this is not a consistent finding. (schleiden-eifel.de)
Genes7
- CGH does, however, allow for the exploration of all 46 human chromosomes in single test and the discovery of deletions and duplications, even on the microscopic scale which may lead to the identification of candidate genes to be further explored by other cytological techniques. (wikipedia.org)
- Deletions can be very large, encompassing many genes and megabases of DNA, to the point of producing a visible cytological abnormality in a chromosome. (findmice.org)
- Duplications can lead to an increase in the number of genes carried on a chromosome and may or may not be cytologically visible. (findmice.org)
- A comparison of human and chimpanzee genes in the region of this inversion indicates that two genes-ROCK1 and USP14-that are adjacent on chimpanzee chromosome 17 (which corresponds to human chromosome 18) are more distantly positioned on human chromosome 18. (schleiden-eifel.de)
- Because even small segments of chromosomes can span many genes, chromosomal disorders are characteristically dramatic and often fatal. (schleiden-eifel.de)
- For example, embryos produced in serum-containing conditions had a lower expression of genes related to metabolism while embryos produced in serum-free conditions showed aberrations in genes involved in lipid metabolism. (biomedcentral.com)
- For different DNases, separate DNASE genes are located on different chromosomes. (geneticeducation.co.in)
Intracytoplasmic Sperm Inj1
- This study was conducted to evaluate in vivo and in vitro development of in vitro-matured equine oocytes fertilized by intracytoplasmic sperm injection. (bioone.org)
Abnormality2
- In an organism, any visible abnormality in chromosome number or structure from the diploid set is known as chromosomal aberration . (schleiden-eifel.de)
- Chromosome abnormality. (ps3magic.de)
Whole chromosome2
- The aim of this technique is to quickly and efficiently compare two genomic DNA samples arising from two sources, which are most often closely related, because it is suspected that they contain differences in terms of either gains or losses of either whole chromosomes or subchromosomal regions (a portion of a whole chromosome). (wikipedia.org)
- Consomic (or Chromosome Substitution Strains) are derived by backcrossing to a parental inbred strain for at least ten generations while selecting for retention of a specific whole chromosome from the donor strain. (findmice.org)
Gene7
- He suggested to introduce the term chromosomics being equal to cytogenomics to bring the three-dimensional morphologically of chromosomes into the focus of research, as this is essential for gene regulation. (frontiersin.org)
- When not physically linked, the elements interact with elements on the homologous chromosome and cause derepression of its wild-type Scr gene. (nih.gov)
- Using a transgenic assay, we identified at least five DNA fragments from the Scr gene that silence transcription from a reporter gene. (nih.gov)
- Interestingly, a sporadic carrier of the latter aberration presented the SHFM1 phenotype with additional features overlapping with Baker-Gordon syndrome (BAGOS), which resulted from the translocation breakpoint at chromosome 12 within the SYT1 gene. (bvsalud.org)
- Types of genetic mutations include Germline mutation A change in a gene that occurs in a parents reproductive cells (egg or sperm) that affects the genetic makeup of their child. (ps3magic.de)
- The enzyme is encoded by a gene DNASE I which is located on chromosome 16 at 16p13.3. (geneticeducation.co.in)
- chimeric gene product and caused H 89 dihydrochloride irreversible inhibition by a reciprocal well balanced translocation between your long hands of chromosomes 9 and 22, t(9;22), cytogenetically detected seeing that the Philadelphia chromosome (Ph). (cancercurehere.com)
Abnormalities2
- The genetic controversy about LSD started in 1967 when Cohen, Marinello and Back (22) published a paper suggesting that LSD should be added to the list of substances capable of causing abnormalities in the chromosomes. (druglibrary.net)
- However, within populations there can be found abnormalities involving the structure or number of chromosomes . (schleiden-eifel.de)
Genome4
- A kind of mutation in which there is a change to the normal arrangement of the genome into chromosomes. (findmice.org)
- The most notable example is NIPT for trisomy 21 (where the genome of the fetus contains an extra copy of chromosome 21), which causes Down syndrome, a test that has shown high sensitivity and specificity not only in high-risk populations like advanced maternal age pregnancies, but also in the general population [7]. (identifai-genetics.com)
- Methods: We applied GTG banding, array-based comparative genomic hybridization (aCGH), and whole-genome sequencing (WGS) in order to identify the causative aberrations in all affected patients. (bvsalud.org)
- May 21, 2021 All mutations that change the total number of chromosomes are considered to be genome mutations. (ps3magic.de)
Duplications1
- examples include aneuploidy (atypical chromosome number), deletion (loss of part of a chromosome), duplications (extra copies of a region of a chromosome), inversion (when part of a chromosome breaks off and reattaches in reverse. (schleiden-eifel.de)
Breakpoints1
- In addition, we present the first case of SHFM1 and BAGOS-like phenotype that resulted from translocation breakpoints at chromosomes 7 and 12, both of which were pathogenic, and consequently, we show the first evidence that BAGOS can also result from the regulatory loss-of-function SYT1 mutations. (bvsalud.org)
Cytogenetically1
- These are some of the most common cytogenetically visible rearrangements in humans - for example , the pericentric inversion of chromosome 9 is found in over. (schleiden-eifel.de)
Genetic4
- A number of scientific papers have been published indicating that LSD might cause structural changes in the chromosomes, genetic mutations, disturbances of embryonic development, and malignant degeneration of cells. (druglibrary.net)
- Aberration of asymmetric segregation of centrosomes by genetic manipulation of the centrosomal, microtubule-associated protein Ninein alters fate decisions of NPCs and their maintenance in the VZ of human cortical organoids. (elifesciences.org)
- The y-axis values indicate the mean genetic distance sums for each xrs2 mutant relative to the wild type (for chromosomes III or VII). (ps3magic.de)
- The interaction and linkage between Cyn_Z_6676874 and Cyn_Z_8564889 and the absence of W sperm from pseudomales unravel the genetic architecture of sex reversal in C. semilaevis. (docslib.org)
Morphology1
- As a result, numerous authors have suggested an introduction of sperm DNA damage testing into the andrological laboratory workup as an independent tool as DNA fragmentation apart from normal sperm morphology appears to be a reliable and more robust parameter than conventional semen analysis due to its low biological variability and thus is a useful biomarker that should be implemented in any andrological diagnostic workup [ 19 - 21 ]. (hindawi.com)
Capacitation1
- In mammalian spermatozoa, actin represents the most abundant cytoskeletal protein localized in sperm head which actively participates in several structural and biochemical functions such as: i) head shaping occurring during spermiogenesis, ii) sperm capacitation and iii) acrosome reaction (AR) [ 1 - 4 ]. (ijbs.com)
Structural4
- 22) * After my arrival in the United States, I participated in a major study concentrating on structural changes of the chromosomes in the white blood cells following LSD administration. (druglibrary.net)
- The first group includes papers describing structural changes of the chromosomes produced by LSD in vitro , ** in these experiments various concentrations of LSD are added to cultures of cells from human, animal, or plant tissues in a test-tube. (druglibrary.net)
- The possibility of inducing structural changes in the chromosomes by exogenous agents such as radiation, viruses, and a variety of chemicals, has been a subject of great scientific interest for a long time. (druglibrary.net)
- Structural mutations can be at the level of a complete chromosome (e.g. (identifai-genetics.com)
Deletion1
- Possible types of mutations in chromosomes include Deletion When a segment of DNA is lost, so there is a missing segment in the chromosome. (ps3magic.de)
Zygote1
- Besides affecting fertilization and the outcome of pregnancy, sperm DNA damage has a negative impact on the health of the offspring as uncorrected sperm DNA damage following zygote formation has the potential to create mutations/epimutations in the offspring [ 7 ]. (hindawi.com)
Acrosome2
- Interestingly, F-actin depolymerization was also associated with a correct acrosome repositioning, thus to favor a proper acrosome reaction onset, with changes in sperm nuclear size parameters and histone acetylation rate reaching high-quality conditions. (ijbs.com)
- In particular, sperm head shaping, that coincides with acrosome biogenesis process, is supported by the acroplaxome, a nucleo-skeletal structure which not only anchors the acrosome to the nuclear envelope, ensuring its correct positioning, but also provides a mechanical scaffold plate during the nuclear shaping of the spermatid. (ijbs.com)
Reproductive1
- In addition, other corrective measures include sperm separation for assisted reproductive techniques. (hindawi.com)
Organism1
- what do you call an organism with four sets of chromosomes . (schleiden-eifel.de)
Methodology1
- We used the Crisper/Cas9 methodology to generate chromosomes lacking one, two, or three of the silencing elements. (nih.gov)
Vitro2
- Oocytes were collected from slaughterhouse-derived ovaries, matured in vitro, and injected with frozen-thawed stallion sperm. (bioone.org)
- In vitro method for producing large amounts of specific DNA or RNA fragments of defined length and sequence from small amounts of short oligonucleotide flanking sequences (primers). (lookformedical.com)
Arrows1
- Derivative chromosomes are indicated with arrows. (schleiden-eifel.de)
Males2
- B. This chromosomal aberration tends to manifest in males in the form of absent or delayed puberty, sterility, development of breast, etc. (schleiden-eifel.de)
- envision physician services leadership ' Sex chromosomes determine an individual's sex females have two X chromosomes (XX), and males have an X and a Y chromosome (XY). (ps3magic.de)
Consists1
- A chromosome consists of a long, continuous strand of DNA and associated proteins. (findmice.org)
Infertility4
- At the level of human exposure, ATZ reduces sperm count and contribute to infertility in men. (frontiersin.org)
- Infertility in men can result from deficiencies in sperm formation, concentration, or transportation. (medscape.com)
- Indications for performing a postcoital test include semen hyperviscosity, increased or decreased semen volume with good sperm density, or unexplained infertility. (medscape.com)
- Testicular biopsy is indicated in azoospermic men with a normal-sized testis and normal findings on hormonal studies to evaluate for ductal obstruction, to further evaluate idiopathic infertility, and to retrieve sperm. (medscape.com)
Molecular2
- Here especially highlighted variations of FISH are molecular combing, chromosome orientation-FISH (CO-FISH), telomere-FISH, parental origin determination FISH (POD-FISH), FISH to resolve the nuclear architecture, multicolor-FISH (mFISH) approaches, among other applied in chromoanagenesis studies, Comet-FISH, and CRISPR-mediated FISH-applications. (frontiersin.org)
- Telomeres are protective molecular caps at the ends of chromosomes. (ps3magic.de)
Affects1
- Chromosomal This type affects the structures that hold your genesDNA within each cell (chromosomes). (ps3magic.de)
Nuclear2
- Nuclear F-actin is also involved in sperm head shaping and chromosome compartmentalization. (ijbs.com)
- Chromosome mutations are alterations occurring in chromosomes that typically result from errors during nuclear division or from mutagens. (ps3magic.de)
Clinical1
- Another chromosome-related clinical application is fetal sex determination, which also enables to rule out X-linked recessive disorders in case of a female fetus. (identifai-genetics.com)
Human4
- The authors painted a series of individual human chromosomes from a DNA library with two different fluorophores in different proportions to test the technique, and also applied CGH to genomic DNA from patients affected with either Downs syndrome or T-cell prolymphocytic leukemia as well as cells of a renal papillary carcinoma cell line. (wikipedia.org)
- In our work, we characterized subcellular organization of F-actin in human high- and low-quality spermatozoa (A- and B-SPZ), respectively, showing that F-actin over-expression in sperm head of B-SPZ affected IZUMO1 localization. (ijbs.com)
- ZOO-FISH and R-banding reveal extensive conservation of human chromosome regions in euchromatic regions of river buffalo chromosomes. (cnr.it)
- Comparison of the human with the sheep genomes by use of human chromosome-specific painting probes. (cnr.it)
Cell4
- NIPT is based on the presence of DNA fragments that circulate in our blood plasma, outside of blood cells, named cell-free DNA (cfDNA). (identifai-genetics.com)
- If a normal diploid cell is 2n, the chromosome content of a double tetrasomic cell is designated. (schleiden-eifel.de)
- The chromosome number of this cell is 2n-1 = 45. (schleiden-eifel.de)
- During spermiogenesis, sperm cell undergoes a massive morphological modification needful for fertility ability acquisition. (ijbs.com)
Protein1
- among them, the glycoprotein IZUMO1 is the major protein involved in sperm-oocyte fusion. (ijbs.com)
Test2
- A higher intensity of the test sample colour in a specific region of a chromosome indicates the gain of material of that region in the corresponding source sample, while a higher intensity of the reference sample colour indicates the loss of material in the test sample in that specific region. (wikipedia.org)
- Chromosome stability test in both cattle and river buffaloes exposed to dioxin. (cnr.it)
Possibility1
- The main part deals with examples of modern FISH-applications, highlighting unique possibilities of the approach, like the possibility to study individual cells and even individual chromosomes. (frontiersin.org)
Small1
- It includes a small number of papers dealing with the detailed mechanism of the action of LSD on the deoxyribonucleic acid (DNA), the most important constituent of the chromosomes. (druglibrary.net)
Transcription1
- The enhancer is not only able to activate transcription of the Scr promoter that is 35 kb distant but can also activate transcription of the Scr promoter on the homologous chromosome. (nih.gov)
White blood1
- DNA adducts may be detected in white blood cells or tissue biopsies, and specific DNA fragments may be excreted in the urine. (iloencyclopaedia.org)
Single1
- An inbred strain that contains a single entire chromosome from another strain. (findmice.org)
Change1
- It only has fragments of the empirical knowledge pertaining to environmental change. (reasoned.org)
Level1
- The level of sperm DNA fragmentation may give a sense of guidance as to the appropriate method of ARTs to employ especially between IVF and ICSI [ 17 , 18 ]. (hindawi.com)
Length1
- Using a fluorescence microscope and computer software, the differentially coloured fluorescent signals are then compared along the length of each chromosome for identification of chromosomal differences between the two sources. (wikipedia.org)
Region1
- The fry was raised for region on the Y chromosome (Kato et al. (docslib.org)
Formation1
- Infertile men may have deficiencies in sperm formation, concentration (eg, oligospermia [too few sperm], azoospermia [no sperm in the ejaculate]), or transportation. (medscape.com)
Complete1
- a complete haploid set of chromosomes is present. (schleiden-eifel.de)
Effects2
- The Effects of LSD on Chromosomes. (druglibrary.net)
- Paternal sperm DNA damage has negative effects on the integrity of early embryonic development as the percentage of good quality embryos as well as implantation rates was significantly reduced in patients exhibiting high DNA damage [ 27 ] and it appears that the second and third mitoses are the sensitive periods [ 28 ]. (hindawi.com)
Damage1
- Furthermore, sperm DNA damage appears to be linked to the most important checkpoints of fertility such as reduced fertilization rates, lower embryo quality and pregnancy rates, higher miscarriage rates, malformations, and childhood diseases [ 22 ]. (hindawi.com)
FISH2
- Thirteen type I loci from HSA4q, HSA6p, HSA7q and HSA12q were comparatively FISH-mapped in four river buffalo and sheep chromosomes. (cnr.it)
- Comparative FISH mapping of bovid X chromosomes reveals homologies and divergences between the subfamilies bovinae and caprinae. (cnr.it)