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  • NCBI
  • Surprisingly, BV was found to be carrier of a 1.9 Mb deletion between 67228076 and 69164712 nucleotides (hg18 NCBI build36) on chromosome 16q22.1 (Figure 4a and 4b). (nih.gov)
  • chromosomal
  • Mosaic Chromosome 20 ring [r(20)] is a chromosomal disorder associated with a rare syndrome characterized by a typical seizure phenotype, a particular electroclinical pattern, cognitive impairment, behavioural problems and absence of a consistent pattern of dysmorphology. (nih.gov)
  • recombination
  • Recombination events were identified that narrow the PPCD1-disease interval from 20 to 16.44 cM. (nih.gov)
  • proteins
  • The general consensus prior to the mid-1940s was that proteins (which contain twenty different amino acids) were the most logical candidate for the genetic material. (encyclopedia.com)
  • Autosomal
  • Posterior polymorphous corneal dystrophy (PPCD) is a genetically heterogeneous autosomal dominant condition which maps to the pericentromeric region of chromosome 20. (nih.gov)
  • Autosomal traits are associated with a single gene on an autosome (non-sex chromosome)-they are called "dominant" because a single copy-inherited from either parent-is enough to cause this trait to appear. (wikipedia.org)
  • trait
  • He correctly concluded from this that the white-eye color trait is on the X chromosome. (brighthub.com)
  • Because the trait is carried only on the X chromosome, it is called sex-linked. (encyclopedia.com)
  • Simultaneously, Mary F. Lyon began investigating manipulations of X-linked traits that had phenotypically visible consequences, particularly in mice, whose fur color is a trait intimately linked to the X chromosome. (wikipedia.org)
  • The trait or gene will be located on a non-sex chromosome. (wikipedia.org)
  • Men cannot be carriers for recessive X linked traits, as they only have one X chromosome, so any X linked trait inherited from the mother will show up. (wikipedia.org)
  • Y-linked inheritance occurs when a gene, trait, or disorder is transferred through the Y chromosome. (wikipedia.org)
  • diagnosis
  • We submitted 8 subjects with a previous diagnosis of ring 20 chromosome mosaicism to a clinical re-evaluation, followed by cytogenetic, FISH, array-CGH and molecular analyses. (nih.gov)
  • homology with humans
  • This close relationship, the associated high homology with humans, their ease of maintenance and handling, and their high reproduction rate, make mice particularly suitable models for human-oriented research. (wikipedia.org)
  • syndrome
  • Genetic investigations on 8 patients affected by ring 20 chromosome syndrome. (nih.gov)
  • The pathogenic mechanism underlying seizures disorders in r(20) syndrome is still unknown. (nih.gov)
  • We performed a detailed clinical and genetic study on 8 patients with r(20) chromosome, aimed at detecting the genetic mechanism underlying r(20) syndrome. (nih.gov)
  • Angelman Syndrome (Happy Puppet Syndrome): AS is a neurodevelopmental disorder caused by loss of paternally derived gene(s) on chromosome 15. (rettsyndrome.org)
  • Among humans, some men have two Xs and a Y ("XXY", see Klinefelter syndrome), or one X and two Ys (see XYY syndrome), and some women have three Xs or a single X instead of a double X ("X0", see Turner syndrome). (wikipedia.org)
  • linkage
  • Nonparametric analysis of chromosome 12 inheritance data collected with the MODY3-linked markers D12S349 and D12S86 provides evidence for linkage to NIDDM with P values of 0.04 and 0.006, respectively, in Caucasian sib pairs using similar analyses. (diabetesjournals.org)
  • No evidence for linkage of MODY1 and MODY3 markers to NIDDM in African-American sib pairs was observed. (diabetesjournals.org)
  • A maximum LOD score of 1.48 was calculated for linkage to MODYl-linked loci and 1.45 to MODY3-linked loci in Caucasian sib pairs. (diabetesjournals.org)
  • Exons
  • C7orf43 encodes 2 isoforms, the longest being C7orf43 isoform 1, which is 2585 base pairs long and has with 11 exons and 10 introns. (wikipedia.org)
  • In oxen, the coding sequence consists of 17 exons and has a length of about 34,500 nucleotide pairs. (wikipedia.org)
  • The gene is composed of 37 gt-at introns/alternative introns with 57 exons expressed in 1 unspliced form of 4253 bp and 20 alternatively spliced forms of varying lengths. (wikipedia.org)
  • analyses
  • Nonparametric analysis of chromosome 20 inheritance data collected with the MODYl-linked marker D20S197 provides evidence forlinkage to NIDDM with a P value of 0.005 in Caucasian sib pairs using affected sibpair (ASP) analyses. (diabetesjournals.org)
  • During the 1980s detailed x-ray crystallographic analyses of DNA became acknowledged as proof of the structural arrangement that had been described by Watson and Crick, including the Watson - Crick complementary base-pairing arrangements. (encyclopedia.com)
  • Array-CGH analyses revealed a chromosome 20 normal profile in all patients (Figure 3). (nih.gov)
  • 1998
  • 1998). "Molecular characterization and mutational analysis of the human B17 subunit of the mitochondrial respiratory chain complex I". Hum. (wikipedia.org)
  • cells
  • He extracted a gelatinous material that contained organic phosphorus from cells in human pus that was obtained from the bandages of wounded soldiers. (encyclopedia.com)
  • FISH and array-CGH experiments indicate that cryptic deletions on chromosome 20 are not the cause of the r(20) chromosome associated disease.Moreover, no evidence of chromosome 20 uniparental disomy was found.Behavioural problems also seem to be associated with higher percentages of r(20) chromosome cells. (nih.gov)
  • Higher percentages of r(20) chromosome cells were observed to be related with precocious age at seizure onset and with resistance to antiepileptic drug treatment. (nih.gov)
  • Behavioural problems also seem to be associated with higher percentages of r(20) chromosome cells. (nih.gov)
  • Cells formed through meiosis have only half the number of chromosomes or genetic material of the parent cell. (edhelper.com)
  • For example, most cells of fruit flies have eight chromosomes, arranged as four similar pairs. (edhelper.com)
  • But the egg or sperm cells of a fruit fly have only four chromosomes. (edhelper.com)
  • But human egg and sperm cells only have twenty-three chromosomes. (edhelper.com)
  • First of all, desired chromosomes are broken into several segments with X-rays, after which they are implanted in rodent cells, which clone the chromosomes. (wikipedia.org)
  • Then, in 1959 Susumu Ohno proved that these satellite-like structures found exclusively in female cells were actually derived from female X chromosomes. (wikipedia.org)
  • adult
  • To identify different mRNA classes transcribed from the VSX1 gene, a 3′RACE experiment was performed on human adult retinal total RNA. (nih.gov)
  • sequence
  • In humans, C7orf43 has 9 detected common single-nucleotide polymorphisms (SNPs), all of which are located in non-coding regions and thus do not affect amino acid sequence. (wikipedia.org)
  • sequences
  • The older estimate was based on erroneous reports that the platypus X chromosomes contained these sequences. (wikipedia.org)
  • There are differences in amino acid sequences: 8 in Homo sapiens, 6 in Mus musculus, 6 in Capra hircus, 10 in Bos taurus and 20 in Sus scrofa. (wikipedia.org)
  • researchers
  • Scientific American, May 2009 Scientists Identify Gene Difference Between Humans and Chimps, Scientific American, 17 August 2006 Researchers Identify Human DNA on the Fast Track, Howard Hughes Medical Institute website, 16 August 2006. (wikipedia.org)
  • male
  • Chromosome 20 pair in human male karyogram . (wikipedia.org)
  • This comes about because of the fertilization of the female egg (with its 23 chromosomes, one of which is an X) with a sperm from the male (with its 23 chromosomes, one of which is either an X or a Y). (brighthub.com)
  • Such a combination of chromosomes could produce tortoiseshell or calico markings in the male, in the same way as XX chromosomes produce them in the female. (wikipedia.org)
  • citation needed] All but about one in three thousand of the rare calico or tortoiseshell male cats are sterile because of the chromosome abnormality, and breeders reject any exceptions for stud purposes because they generally are of poor physical quality and fertility. (wikipedia.org)
  • In any event, because the genetic conditions for calico coloring are X linked, a fertile male calico's coloring would not have any determination in the coloring of any male offspring (who would receive the Y, not the X chromosome from their father). (wikipedia.org)
  • Both factors VIII and IX are produced by a genetic defect of the X chromosome, so hemophilia A and B are both sex-linked diseases passed on from a female to male offspring. (encyclopedia.com)
  • Offspring have two sex chromosomes: an offspring with two X chromosomes will develop female characteristics, and an offspring with an X and a Y chromosome will develop male characteristics. (wikipedia.org)
  • There are other exceptions in which SRY is damaged (leading to an XY female), or copied to the X (leading to an XX male). (wikipedia.org)
  • sperm
  • They have two versions of each chromosome, one contributed by the mother's ovum, and the other by the father's sperm, known as gametes, described as haploid, and created through meiosis. (wikipedia.org)
  • Homo
  • CCDS Release 20 for Homo sapiens. (wikipedia.org)
  • The timeline of human evolution outlines the major events in the development of the human species, Homo sapiens, and the evolution of our ancestors. (wikipedia.org)
  • https://www.theguardian.com/science/2017/jun/07/oldest-homo-sapiens-bones-ever-found-shake-foundations-of-the-human-story "'Experiments with sex have been very hard to conduct,' Goddard said. (wikipedia.org)
  • organisms
  • some single cell organisms have much more DNA than humans (see Junk DNA and C-value enigma). (wikipedia.org)
  • TTC39B is conserved in organisms from human to platyhelminthes and is not conserved in yeast and fungi. (wikipedia.org)
  • Mechanisms for this include simple dilution (an egg contains on average 200,000 mtDNA molecules, whereas a healthy human sperm was reported to contain on average 5 molecules ), degradation of sperm mtDNA in the male genital tract, in the fertilized egg, and, at least in a few organisms, failure of sperm mtDNA to enter the egg. (wikipedia.org)
  • consists
  • HVR1, for example, consists of about 440 base pairs. (wikipedia.org)
  • The molecular composition of the human telomerase enzyme complex was determined by Dr Scott Cohen and his team at the Children's Medical Research Institute (Sydney Australia) and consists of two molecules each of human telomerase reverse transcriptase (TERT), telomerase RNA (TR or TERC), and dyskerin (DKC1). (wikipedia.org)
  • organism
  • The aim of this study is to estimate the influence of general environmental conditions on human organism at the final stage of the Neolithic period - in the Corded Ware culture. (blogspot.com)
  • populations
  • So-called physiological stress markers are extremely valuable in assessing life conditions of old human populations. (blogspot.com)
  • Clonal populations of bacteria, each population maintaining a single artificial chromosome, are stored in various laboratories around the world. (wikipedia.org)
  • promoter
  • Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene so that each gene pair shares a common promoter. (wikipedia.org)
  • fragments
  • Presenilin undergoes endo-proteolytic processing to produce ~27-28 kDa N-terminal and ~16-17 kDa C-terminal fragments in humans. (wikipedia.org)
  • various
  • The various tarantula hawk wasps are of a similar size and can overpower a spider many times its own weight, and move it to its burrow, with a sting that is excruciatingly painful to humans. (wikipedia.org)
  • yeast
  • Some of these compounds had some antioxidant activity in certain cells and some effected yeast cells expressing human estrogen. (wikipedia.org)
  • cases
  • The system for determining sex in Silene latifolia is close to that found in humans because in both cases the Y chromosome determines what reproductive mechanisms will be expressed in the offspring. (wikipedia.org)
  • studies
  • The common inference drawn from such studies is that the sex of the offspring is determined by the Y chromosome. (wikipedia.org)
  • Several studies concentrated on Silene latifolia have shown a correlation between loci on the Y chromosome and the sex that is expressed phenotypically in the flower. (wikipedia.org)
  • structure
  • Other changes in the number or structure of chromosome 7 can cause delayed growth and development, mental disorder, characteristic facial features, skeletal abnormalities, delayed speech, and other medical problems. (wikipedia.org)
  • TERT has a 'mitten' structure that allows it to wrap around the chromosome to add single-stranded telomere repeats. (wikipedia.org)
  • single
  • It is important to know if the sequencing experiment was single-end or paired-end, as the alignment software will require the user to specify both FASTQ files for a paired-end experiment. (bioconductor.org)
  • similar
  • Activity anorexia (AA) is a condition where rats begin to exercise excessively while simultaneously cutting down on their food intake, similar to human anorexia nervosa or hypergymnasia. (wikipedia.org)
  • cell
  • In the experiment, four primary human airway smooth muscle cell lines were treated with 1 micromolar dexamethasone for 18 hours. (bioconductor.org)
  • The role of telomeres and telomerase in cell aging and cancer was established by scientists at biotechnology company Geron with the cloning of the RNA and catalytic components of human telomerase and the development of a polymerase chain reaction (PCR) based assay for telomerase activity called the TRAP assay, which surveys telomerase activity in multiple types of cancer. (wikipedia.org)
  • complete
  • This is usually accomplished on human mitochondrial DNA by sequencing the hypervariable control regions (HVR1 or HVR2), and sometimes the complete molecule of the mitochondrial DNA, as a genealogical DNA test. (wikipedia.org)
  • found
  • Though it was once the most common fox in the eastern United States, and still is found there, human advancement and deforestation allowed the red fox to become more dominant. (wikipedia.org)
  • cause
  • Spiral wave breakup is believed to be a cause of ventricular fibrillation in human hearts(see movie). (blogspot.com)
  • study
  • Historically, there has been an anthropocentric tendency to emphasize the study of animal psychopathologies as models for human mental illnesses. (wikipedia.org)