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  • locus
  • The l7Rn6 4234SB allele is closely linked to c on distal chromosome 7 and was maintained on a mixed genetic background opposite a wild-type chromosome marked by the chinchilla ( c ch ) locus, a partial loss-of-function allele at the tyrosinase locus ( R inchik and C arpenter 1993 , 1999 ). (genetics.org)
  • Furthermore, a stepwise (locus-by-locus) 5-cM sliding-window analysis across 22 autosomes revealed nine genomic regions (2.2-6.4 cM), where the frequency of small FET probabilities among loci was greater than or equal to that presented by the HLA on chromosome 6, a region known to have extensive LD. (genetics.org)
  • inversions
  • To begin to define functional information for a small portion of chromosome 11 , deficiencies, duplications, and inversions were constructed in embryonic stem cells with sizes ranging from 1 Mb to 22 cM. (genetics.org)
  • ONE of the most common causes of human developmental disorders and fetal loss are chromosomal abnormalities such as inversions, duplications, deficiencies, translocations, and nondisjunction. (genetics.org)
  • Supporting Information , Figure S1 shows the distribution of known human inversions according to the TCAG database. (genetics.org)
  • While our focus is on humans, our results may generalize to other species to which these methods are applied and that have inversions with similar characteristics. (genetics.org)
  • aneuploidy
  • Mechanisms of aneuploidy induction in human oogenesis and early embryogenesis. (warwick.ac.uk)
  • 16. Dyban A, Freidine M, Severova E, Cieslak J, Ivakhnenko V, Verlinsky Y. Detection of aneuploidy in human oocytes and corresponding first polar bodies by fluorescent in situ hybridization. (warwick.ac.uk)
  • Because aneuploidy is a common property of many pathogenic fungi, including those posing emerging threats to plants, animals and humans, we propose that aneuploid formation and LOH often accompanying it contribute to the rapid generation of diversity that can facilitate the emergence of fungal pathogens to new environmental niches and/or new hosts, as well as promote antifungal drug resistance that makes emerging fungal infections ever more difficult to contain. (royalsocietypublishing.org)
  • Recent work suggests that aneuploidy is a common property of pathogenic and environmental isolates of unicellular fungi, ranging from basidiomycetes such as Cryptococcus neoformans , to ascomycete yeasts, including wild isolates of baker's yeast Saccharomyces cerevisiae and Candida albicans , a common commensal of humans and the most prevalent cause of fungal infections of humans [ 1 , 5 - 9 ]. (royalsocietypublishing.org)
  • gene
  • The generation of animal models that accurately recapitulate these types of genetic lesions will facilitate the study of human disease, and this will eventually enable the definition of specific gene-function relationships in these clinical syndromes. (genetics.org)
  • The perinatal lethal N -ethyl- N -nitrosourea-induced l7Rn6 4234SB allele contained a nonsense mutation in the previously hypothetical gene NM_026304 on chromosome 7. (genetics.org)
  • To determine the potential of wild-derived mouse strains for fine QTL mapping, we constructed a haplotype map of a 250-kb region of the t -complex on chromosome 17 containing the Hybrid sterility 1 ( Hst1 ) gene. (genetics.org)
  • distinct
  • Meiotic chromosome development during oogenesis is subdivided into three distinct phases. (warwick.ac.uk)
  • We identified a previously uncharacterized 125 aa region of Nup2 that is necessary and sufficient for its meiotic function, thus behaving as a meiotic autonomous region (MAR). Nup2-MAR forms distinct foci on spread meiotic chromosomes, with a subset overlapping with Ndj1 foci. (genetics.org)
  • genes
  • Finally, we identified human orthologs for many of these genes and examined their status in human tumors. (genetics.org)
  • T is a deletion (see Table 1 for all genes mentioned) that includes a semidominant mutation that has been found in only non- t -carrying wild-type chromosomes. (genetics.org)
  • diploid
  • About 3 million years ago, humans diverged from apes, and diploid A, B, and D progenitor species of wheat diverged from a common ancestor. (genetics.org)
  • About 200,000 years ago, at nearly the same time that modern humans originated in Africa, two diploid grass species hybridized to form polyploid wheat in the Middle East. (genetics.org)
  • populations
  • DISCUSSIONS of genetic differences between major human populations have long been dominated by two facts: (a) Such differences account for only a small fraction of variance in allele frequencies, but nonetheless (b) multilocus statistics assign most individuals to the correct population. (genetics.org)
  • different
  • Localization of Nup2-MAR to meiotic chromosomes does not require Ndj1, nor does Ndj1 localization require Nup2, suggesting these proteins function in different pathways, and their interaction is weak or indirect. (genetics.org)
  • These data suggest Nup2 and Ndj1 support partially overlapping functions that promote two different levels of meiotic chromosome organization necessary to withstand a dynamic stage of the eukaryotic life cycle. (genetics.org)
  • high
  • A large fraction of human complex trait heritability is due to a high number of variants with small marginal effects and their interactions with genotype and environment. (genetics.org)
  • SGRP-4X is a deeply characterized resource that provides a framework for powerful and high-resolution genetic analysis of yeast phenotypes and serves as a test bed for testing avenues to attack human complex traits. (genetics.org)
  • common
  • The three major cereals (rice, maize, and wheat), which diverged from a common ancestor ∼40 million years ago, provide most of the food for humans. (genetics.org)
  • largely
  • Collectively, these studies have shown that the average level of nucleotide diversity in humans is quite low, largely confirming a result first obtained by L i and S adler ( 1991 ). (genetics.org)
  • wild
  • The lengths of the haplotype blocks deduced from 36 domesticus chromosomes were in tens of kilobases, suggesting that the wild-derived Mmd strains are suitable for fine interval-specific mapping. (genetics.org)
  • Every t -bearing chromosome trapped in the wild in Europe and the Americas always contains at least one recessive embryo lethal ( S ilver 1981 ). (genetics.org)
  • disease
  • Emerging fungal infections continue to pose significant threats to animals, plants and humans, causing disease outbreaks and even posing a threat to food security [ 1 ]. (royalsocietypublishing.org)
  • Other important (but less studied) vector-borne diseases include leishmaniasis, trypanosomiasis, Chagas disease, viral encephalitis, yellow fever, onchocerciasis and lymphatic filariasis [ 6 ]. (royalsocietypublishing.org)
  • studies
  • Recent studies have shown that the human haplotype blocks usually extend over tens of kilobases ( I nternational H apmap C onsortium 2007 ). (genetics.org)
  • shown
  • A wide variety of such approaches have been proposed, and population and epidemiological models have shown that they could have a substantial effect, with excellent potential for sustained control and even elimination [ 12 - 20 ]. (royalsocietypublishing.org)
  • Mutation
  • In this paper, we show that mismatch distributions and tests of mutation/drift equilibrium based on up to 166 Y-chromosome SNPs, in 46 samples from all continents, also fail to support an increase of the male effective population size. (springer.com)
  • mitochondrial
  • ABC6_HUMAN ATP-binding cassette, sub-family B, member 6, mitochondrial precursor (Mitochondrial ABC transporter 3) (Mt-ABC transporter 3) (ABC transporter umat) - Homo sapiens (Human). (tcdb.org)
  • Evidence of prehistoric demographic expansions has been detected in the mitochondrial diversity of most human populations and in a Y-chromosome STR analysis, but not in a previous study of 11 Y-chromosome SNPs in Europeans. (springer.com)
  • The results of our SNP analyses can be reconciled with the expansion of male effective population sizes inferred from STR loci, and with mitochondrial evidence, by admitting that humans were essentially polygynous during much of their history. (springer.com)
  • genetic
  • Centromeres were first thought to be genetic loci that direct the behavior of chromosomes. (wikipedia.org)
  • The Y chromosome is found only in males and contains many genes that specify male features, as well as genetic and regulatory information that is expressed throughout the whole body. (freerepublic.com)
  • An average of 70% of TNDM is caused by defects initiating over-expression of the father genes in the imprinted region (genes whose expression is dependent on the parent that contributed them) of chromosome 6q24 (Chromosome meaning a string-like structure made of nucleic acid and protein that carries genetic material). (wikipedia.org)
  • There are three mechanism that can cause 6q24-related TNDM, which includes the father's DNA being defected by uniparental isodisomy (UPD) on chromosome 6 and inherited duplication of 6q24 (inherited duplication is a small chromosomal change in which a very little amount of genetic material is copied in chromosome 6). (wikipedia.org)
  • In previous research, it has been observed the involvement of an imprinted gene within TNDM, is only expressed by the father's genetic material or chromosome. (wikipedia.org)
  • The previously listed genetic mechanisms result in twice the normal amount of these two genes and cause chromosome 6q24 TNDM. (wikipedia.org)
  • When comparing the human beta-3 subunit's genetic sequence with other vertebrate beta-3 subunit sequences, there is a high level of genetic conservation. (wikipedia.org)
  • phosphorylation
  • Finally, we have carried out a comprehensive analysis of the putative phosphorylation sites in human sirtuins confirming those sites already known experimentally for human SIRT1 and 2 as well as extending their topology to all the family to get feedback of their physiological functions and cellular localization. (biomedcentral.com)
  • These isozymes function as subunits of the mammalian tetramer phosphofructokinase, which catalyzes the phosphorylation of fructose-6-phosphate to fructose-1,6-bisphosphate. (wikipedia.org)
  • As a PFK subunit, PFKL is involved in catalyzing the phosphorylation of fructose 6-phosphate to fructose 1,6-bisphosphate. (wikipedia.org)
  • subunit
  • Analysis of α subunit mRNA from human lung and kidney showed that during transcription of SCNN1A gene different mRNAs are produced as a result of alternative translation initiation and splicing sites. (wikipedia.org)
  • In global alignment (meaning alignments of sequences along their entire length and not just a partial segment), the human α subunit shares 34% identity with the δ subunit and 26-27% identity with the β and γ subunits. (wikipedia.org)
  • Proteasome subunit beta type-3, also known as 20S proteasome subunit beta-3, is a protein that in humans is encoded by the PSMB3 gene. (wikipedia.org)
  • The human protein proteasome subunit beta type-3 is 23 kDa in size and composed of 205 amino acids. (wikipedia.org)
  • Gamma-aminobutyric acid receptor subunit beta-3 is a protein that in humans is encoded by the GABRB3 gene. (wikipedia.org)
  • The beta-3 subunit has very similar function to the human version of the subunit. (wikipedia.org)
  • In humans, the beta-3 subunit, as well as the subunits of its two neighbouring genes (GABRG3 and GABRA5), are bi-allelically expressed within the cerebral cortex, indicating that the gene is not subjected to imprinting within those cells. (wikipedia.org)
  • 1995
  • 72 (6): 1995-2006. (wikipedia.org)
  • Bertorelle, G, Slatkin, M 1995 The number of segregating sites in expanding human populations, with implications for estimates of demographic parameters. (springer.com)
  • characterization
  • Colonna M, Samaridis J, Angman L. Molecular characterization of two novel C-type lectin-like receptors, one of which is selectively expressed in human dendritic cells. (springer.com)
  • fibroblasts
  • S281 and S285 are phosphorylated by IKKα and IKKβ and enhance E2F4 nuclear localization and DNA-binding of the E2F4/p130 complex in human primary fibroblasts (Araki et al. (atlasgeneticsoncology.org)
  • centromere
  • The centromere is the part of a chromosome that links a pair of sister chromatids (a dyad). (wikipedia.org)
  • The physical role of the centromere is to act as the site of assembly of the kinetochores - a highly complex multiprotein structure that is responsible for the actual events of chromosome segregation - i.e. binding microtubules and signalling to the cell cycle machinery when all chromosomes have adopted correct attachments to the spindle, so that it is safe for cell division to proceed to completion and for cells to enter anaphase. (wikipedia.org)
  • It is now believed that this complex is mostly released from chromosome arms during prophase, so that by the time the chromosomes line up at the mid-plane of the mitotic spindle (also known as the metaphase plate), the last place where they are linked with one another is in the chromatin in and around the centromere. (wikipedia.org)
  • These are X-shaped chromosomes, with the centromere in the middle so that the two arms of the chromosomes are almost equal. (wikipedia.org)
  • A telocentric chromosome's centromere is located at the terminal end of the chromosome. (wikipedia.org)
  • With holocentric chromosomes, the entire length of the chromosome acts as the centromere. (wikipedia.org)
  • 2001
  • Alonso, S, Armour, JA 2001 A highly variable segment of human subterminal 16p reveals a history of population growth for modern humans outside Africa. (springer.com)
  • region
  • Regarding mitotic chromosome structure, centromeres represent a constricted region of the chromosome (often referred to as the primary constriction) where two identical sister chromatids are most closely in contact. (wikipedia.org)
  • Due to the location of GABRB3 in the 15q11-13 imprinting region found in humans, this gene is subject to imprinting depending on the location and the cells developmental state. (wikipedia.org)
  • structures
  • 3D structures of human SIRT2, SIRT3, and SIRT5 revealed the overall conformation of the conserved core domain but they were unable to give a structural information about the presence of very flexible and dynamically disordered regions, the role of which is still structurally and functionally unclear. (biomedcentral.com)
  • cDNA clones
  • A total of 100 kb of DNA derived from 69 individual human brain cDNA clones of 0.7-2.0 kb were sequenced by concatenated cDNA sequencing (CCS), whereby multiple individual DNA fragments are sequenced simultaneously in a single shotgun library. (tcdb.org)
  • Analysis
  • Chromosomal analysis of peripheral leukocytes in patients being treated with nitrogen mustard, 6-mercaptopurine, and A-649 demonstrated an increase in polyploidy, including cells showing endoreduplication. (aacrjournals.org)
  • Ensembl
  • STAR/ENSEMBL.homo_sapiens.release-75 \ --readFilesIn fastq/$f\_1.fastq fastq/$f\_2.fastq \ --runThreadN 12 --outFileNamePrefix aligned/$f. (bioconductor.org)
  • Expression
  • 9kD granulysin is also a chemoattractant for T lymphocytes, monocytes, and other inflammatory cells and activates the expression of a number of cytokines, including RANTES, MCP-1, MCP-3, MIP-1α, IL-10, IL-1, IL-6 and IFNα. (wikipedia.org)
  • Expression of type I and III IFNs can be induced in virtually all cell types upon recognition of viral components, especially nucleic acids, by cytoplasmic and endosomal receptors, whereas type II interferon is induced by cytokines such as IL-12, and its expression is restricted to immune cells such as T cells and NK cells. (wikipedia.org)
  • tumor
  • Administration of Type I IFN has been shown experimentally to inhibit tumor growth in animals, but the beneficial action in human tumors has not been widely documented. (wikipedia.org)
  • type
  • Based on the type of receptor through which they signal, human interferons have been classified into three major types. (wikipedia.org)
  • The type I interferons present in humans are IFN-α, IFN-β, IFN-ε, IFN-κ and IFN-ω. (wikipedia.org)
  • Interferon type II (IFN-γ in humans): This is also known as immune interferon and is activated by Interleukin-12. (wikipedia.org)
  • Interferon type III: Signal through a receptor complex consisting of IL10R2 (also called CRF2-4) and IFNLR1 (also called CRF2-12). (wikipedia.org)
  • study
  • After completion of study treatment, patients are followed up every 6 months for 2 years and then annually for 3 years. (clinicaltrials.gov)
  • data
  • To resolve the issue, we screened 621 Y-chromosomes (of Brahmins, occupying upper most caste position and Dalits and Tribals with the lower most positions in the Indian caste hierarchical system) with fifty-five Y-chromosomal binary markers and Y-microsatellite markers and compiled a data set of 2809 Y-chromosomes (681 Brahmins, 2128 Tribals and Dalits) for conclusions. (blogspot.com)
  • While J2 has penetrated into Europe, the pattern of Y-chromosome diversity in Lebanon does not show the widespread affinities with Europe indicated by the mtDNA data. (blogspot.com)
  • known
  • 26S proteasome non-ATPase regulatory subunit 7, also known as 26S proteasome non-ATPase subunit Rpn8, is an enzyme that in humans is encoded by the PSMD7 gene. (wikipedia.org)
  • days
  • and mycophenolate mofetil PO every 12 hours on days 0-27 or mycophenolate mofetil IV if unable to tolerate PO. (clinicaltrials.gov)
  • Main
  • Gamma-aminobutyric acid (GABA) is the main inhibitory neurotransmitter in human cortex, it has been considered as a food constituent in Europe and a dietary supplement in USA (Boonstra et al. (springeropen.com)
  • cells
  • Some of these compounds had some antioxidant activity in certain cells and some effected yeast cells expressing human estrogen. (wikipedia.org)
  • long
  • It has rigid, strap-like, linear, greyish-green leaves, which are 15-23 cm (6-9 in) long and 2-3mm wide, (at flowering time). (wikipedia.org)
  • It has 3 pointed (acuminate), green, between 7-14 cm (3-6 in) long and 1.8-2 cm wide, spathes (leaves of the flower bud). (wikipedia.org)
  • It has a 4-6 cm (2-2 in) long perianth tube, 4.5 cm long pedicel, 2.5 cm long ovary and 2.5 cm long stamens. (wikipedia.org)
  • previous
  • Previous Y-chromosome results showed a Levantine coastal-inland contrast marked by J1 and J2, and a very strong North African component was evident throughout the Middle East. (blogspot.com)