• Drosophila
  • In Drosophila, the female-specific Sex-lethal (Sxl) protein is required for oogenesis, but how Sxl interfaces with the genetic circuitry controlling oogenesis remains unknown. (sdbonline.org)
  • Drosophila, like mammals 4, increase the transcript levels of a large number of diversely regulated genes along the length of the single male X-chromosome precisely two-fold relative to each female X-chromosome 5. (grantome.com)
  • The objective of this application is to understand how dosage compensation in Drosophila is established, the critical first step in the regulatory process. (grantome.com)
  • The Drosophila Male Specific Lethal (MSL) complex is central to dosage compensation;it first identifies the X chromosome using a combination of cis-acting DNA sequences 6 and co-transcriptional recruitment by its roX (RNA on X) non-coding RNA components7 and then spreads into the bodies of active genes 8. (grantome.com)
  • Some definitions consider sperm activation to consist of these two processes of hyperactivation and the acrosome reaction Hyperactivation is a term also used to express an X chromosome gene dosage compensation mechanism and is seen in Drosophila. (wikipedia.org)
  • IN Drosophila melanogaster , the gene Sex-lethal ( Sxl ) controls the processes of sex determination, sexual behavior, and dosage compensation (the products of the X-linked genes are present in equal amounts in males and females). (genetics.org)
  • The Bodmer lab is pursuing this interest by studying the genetic functions and interactions that specify heart development and maintain heart performance in the Drosophila model. (genetics-gsa.org)
  • The laboratory combines genetic, molecular, neuroanatomical, and electrophysiological studies in both Drosophila and mouse to identify pathways required for the development, maintenance, and regeneration of axons and synapses. (genetics-gsa.org)
  • Evidence for a genetic basis of circadian rhythms in higher eukaryotes began with the discovery of the period (per) locus in Drosophila melanogaster from forward genetic screens completed by Ron Konopka and Seymour Benzer in 1971. (wikipedia.org)
  • Through the analysis of per circadian mutants and additional mutations on Drosophila clock genes, a model encompassing positive and negative autoregulatory feedback loops of transcription and translation has been proposed. (wikipedia.org)
  • He suggested a methodology for achieving dosage compensation in Drosophila by way of a hyperactive male-X model and elucidated its cellular anatomy. (wikipedia.org)
  • His studies also attempted to identify how these genes impact the modulation of apoptosis and neurodegeneration in Drosophila models of human diseases as well as the effects of some of the ayurvedic drugs. (wikipedia.org)
  • Six months later Goldschmidt returned the critique to Stern without comment, called him into his office and offered him a post-graduate fellowship financed by the Rockefeller University at Columbia University, N.Y. to study genetics in Thomas Hunt Morgan's lab, the famous "Fly Room", so-named for the fruit fly Drosophila, the subject of genetic research for Morgan. (wikipedia.org)
  • genome
  • Gene dosage is the number of copies of a particular gene present in a genome. (wikipedia.org)
  • To further determine the contribution of regulatory variation, we combined whole-genome and transcriptome data for 624 individuals from Sardinia to identify common and rare variants that influence gene expression and splicing. (stanford.edu)
  • Duplications are scattered through most of the genome, and can be stable enough to reconstruct genealogies spanning decades of the history of the NC4 lineage.The expression level of many duplicated genes is increased with dosage, but for others it appears that some form of dosage compensation occurs.We suggest courses of action to alleviate the problem. (nih.gov)
  • Duplications of stretches of the genome are an important source of individual genetic variation, but their unrecognized presence in laboratory organisms would be a confounding variable for genetic analysis. (nih.gov)
  • Throughout the entire length of the genome of C. elegans, DCC was found to bind to promoters of genes that were highly expressed. (medindia.net)
  • Ken-ichi Noma who is the lead author of the study and is an associate professor at The Wistar Institute in the department of gene expression and regulation program says "Understanding the three-dimensional structure of our genome is critical if we are to properly understand key functions like transcription, DNA replication and repair. (medindia.net)
  • LncRNAs have essential roles in multiple biological processes including chromatin remodeling, cell differentiation, cell cycle control, genome rearrangement, dosage compensation, gene imprinting and regulation of gene expression [ 10 ]. (jcancer.org)
  • She is a geneticist with expertise in the areas of comparative genomics, epigenetics, genetic immunology and genome structure and regulation. (wikipedia.org)
  • genomic
  • See also Grosse & Khoury, 2006 for the clinical utility of genetic testing, Offit, 2008 for issues surrounding genomic disease profiling, and Pharoah, 2008 for the possible utility of genomic profiling in breast cancer risk assessment. (tripod.com)
  • These are done through a holistic application of dosage compensations through biochemical, genetic, genomic and bioinformatic methodologies Under the leadership of Thoman Boehm, the Department of Developmental Immunology strives to understand the biology and evolution of lymphoid organs and the adaptive immune system, intestinal immune system, and adaptive and innate immunity. (wikipedia.org)
  • locus
  • Manchenko, G. 2004-10-07 00:00:00 In Polydora brevipalpa (Polychaeta, Spionidae), an unusual electrophoretic pattern of glucose-6-phosphate isomerase (GPI) which is determined by a single GPI gene locus and represented by two isozymes (GPI-1 and GPI-2) has been revealed. (deepdyve.com)
  • Additive Variance Calculator and Genetic Variance from a Single Locus . (tripod.com)
  • Calico cats are almost always female because the locus of the gene for the orange/non-orange coloring is on the X chromosome. (wikipedia.org)
  • Since the Y chromosome does not have any locus for the orange gene, there is no chance that an XY male could have both orange and non-orange genes together, which is what it takes to create tortoiseshell or calico coloring. (wikipedia.org)
  • alleles
  • By analyzing the differential expression of two existing, viable alleles for the X-linked enzyme glucose-6-phosphate dehydrogenase (G6PD) gene, Beutler observed that the inactivation of the gene was heritable across passaged generations of the cells. (wikipedia.org)
  • The component of genetic variance ( V G ) due to the additive effects of alleles segregating in the population. (tripod.com)
  • phenotype
  • Previous screens for components of dosage compensation relied on a distinctive male-specific lethal phenotype. (biomedcentral.com)
  • An allele of sans fille ( snf ) that specifically eliminates Sxl protein in germ cells was used to carry out a detailed genetic and cell biological analysis of the resulting ovarian tumor phenotype. (sdbonline.org)
  • In 1961, Mary Lyon proposed the random inactivation of one female X chromosome to explain the mottled phenotype of female mice heterozygous for coat color genes. (wikipedia.org)
  • transcription
  • Defining the novel mechanism by which CLAMP and the MSL complex function together to generate a domain of enhanced transcription is likely to provide key insight into how genes are identified for coordinate regulation across species. (grantome.com)
  • In these cells, there was no transcription or genetic circuits, and therefore no feedback loop. (wikipedia.org)
  • For example, the SRY gene on the Y chromosome encodes the transcription factor TDF and is vital for male sex determination during development. (wikipedia.org)
  • Methylation of histones can either increase or decrease transcription of genes, depending on which amino acids in the histones are methylated, and how many methyl groups are attached. (wikipedia.org)
  • In order to halt the transcription of a gene the DNA must be wound tighter. (wikipedia.org)
  • complex
  • Genetic studies of complex traits have mainly identified associations with noncoding variants. (stanford.edu)
  • We have identified the catalytic subunit of the complex as the product of ESA1 , an essential gene required for cell cycle progression in yeast. (embopress.org)
  • Additionally, we have identified another subunit of the complex as the product of TRA1 , an ATM‐related essential gene homologous to human TRRAP, an essential cofactor for c‐Myc‐ and E2F‐mediated oncogenic transformation. (embopress.org)
  • Guided by strong preliminary data, we propose the following novel mechanism for identifying genes for coordinate regulation: CLAMP and the MSL complex associate inter-dependently, thereby generating a positive feedback amplification system that creates X- specificity from a two-fold X-enrichment of MRE sequences. (grantome.com)
  • The rationale for this work is that determining how the MSL complex specifically targets the X-chromosome will yield key insight into how genes are identified for coordinately regulation within sub-nuclear domains. (grantome.com)
  • Our proposed research is significant because we expect to describe for the first time the previously unknown mechanism that allows MSL complex to identify its high affinity sites, thereby defining the critical first step in establishing coordinate gene regulation. (grantome.com)
  • The protein is called Dosage Compensation Complex (DCC). (medindia.net)
  • It has been pointed out that genes do not generally act in a simple additive manner, but through complex networks involving gene-gene and gene-environment interactions ( Colhoun, 2003 ). (tripod.com)
  • expression
  • Gene dosage is known to be related to the amount of gene product the cell is able to express, however, amount of gene product produced in a cell is more commonly dependent on regulation of gene expression. (wikipedia.org)
  • In Down syndrome, the gene expression on chromosome 21 has increased 50%, and this results in significant health and mental disabilities (1 in 800 human live births have Down syndrome). (wikipedia.org)
  • These slight gene dosage differences are responsible for variation in gene expression depending on the position on the chromosome. (wikipedia.org)
  • Allele-specific expression reveals interactions between genetic variation and environment. (stanford.edu)
  • Using family relationships, we identified 809 segregating expression outliers (median z score of 2.97), averaging 13.3 genes per individual. (stanford.edu)
  • The expression level of many duplicated genes is increased with dosage, but for others it appears that some form of dosage compensation occurs. (nih.gov)
  • The binding of DCC to specific sites on the promoter correlates with the expression levels of the gene. (medindia.net)
  • Thus, presuming that hair color determining genes are X-linked, it makes sense that whether the maternal or paternal X chromosome is inactivated in a particular hair cell can result in differential fur color expression. (wikipedia.org)
  • Altogether, these results indicate that at least a fraction of naturally transcribed intronic non-coding RNAs may be regulated by common physiological signals such as hormones, and further corroborate the notion that the intronic complement of the transcriptome play functional roles in the human gene-expression program. (beds.ac.uk)
  • This is of medical significance due to the potential for the expression of disease genes present on the X chromosome that are normally not expressed due to random X inactivation. (wikipedia.org)
  • The second is that Xce acts as a binding site for dosage factors that will affect XIST gene and Tsix expression (long non-coding RNAs involved in X chromosome inactivation). (wikipedia.org)
  • Its main function is to reduce errors in gene expression by eliminating mRNA transcripts that contain premature stop codons. (wikipedia.org)
  • This process is critical for the regulation of gene expression that allows different cells to express different genes. (wikipedia.org)
  • The Xist RNA gene lies within the X-Inactivation Centre (XIC), which plays a major role in Xist expression and X inactivation. (wikipedia.org)
  • XIST
  • Xist (X-inactive specific transcript) is an RNA gene on the X chromosome of the placental mammals that acts as a major effector of the X inactivation process. (wikipedia.org)
  • The XIST gene is expressed exclusively from the XIC of the inactive X chromosome. (wikipedia.org)
  • In the reported experiments, a single 19-bp antisense cell-permeating PNA targeted against a particular region of Xist RNA prevented the formation of Xi and inhibited cis-silencing of X-linked genes. (wikipedia.org)
  • The human Xist RNA gene is located on the long (q) arm of the X chromosome. (wikipedia.org)
  • The Xist RNA gene consists of conserved repeats within its structure and is also largely localized in the nucleus. (wikipedia.org)
  • The Xist RNA gene consists of an A region, which contains 8 repeats separated by U-rich spacers. (wikipedia.org)
  • An ortholog of the Xist RNA gene in humans has been identified in mice. (wikipedia.org)
  • This ortholog is a 15 kb Xist RNA gene that is also localized in the nucleus. (wikipedia.org)
  • The gene also consists of an Xist Inactivation Center (XIC), which plays a major role in X inactivation. (wikipedia.org)
  • compensate
  • These mutants are compromised in their ability to recruit MSL3 and MOF, dosage compensate the X, and support long distance spreading from roX1 transgenes. (biomedcentral.com)
  • mutations
  • For instance, the blood disorder Beta thalassemia is inherited and caused by mutations within the upstream of the β-globin gene. (wikipedia.org)
  • determination
  • The results obtained suggest genetic sex determination inP. (deepdyve.com)
  • Based on the fact that genetic sex determination is also characteristic of other species of the genus Polydora, which diverged independently during several million years, and taking into account that only six recombination events occurred in the history of 376P. (deepdyve.com)
  • Studies have shown that two copies of the gene are necessary for male sex determination. (wikipedia.org)
  • Because genetic determination of coat colors in calico cats is linked to the X chromosome, calicoes are nearly always female, with one color linked to the maternal X chromosome and a second color linked to the paternal X chromosome. (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)
  • variation
  • The bacterial chromosome is present only in one copy per cell, but there can still be variation in gene dosage due to DNA replication which starts at the origin of replication and ends at the termination site. (wikipedia.org)
  • The genetic variation described here must underlie some of the phenotypic variation observed between strains from different laboratories. (nih.gov)
  • elegans
  • To identify genes required for cell migration and differentiation, we screened for mutants with defects in the migrations of the C. elegans c anal- a ssociated n eurons (CANs). (genetics.org)
  • traits
  • Genes can be the common factor of the qualities of most human-inherited traits. (wikipedia.org)
  • A pedigree is a diagram showing the ancestral relationships and transmission of genetic traits over several generations in a family. (wikipedia.org)
  • protein-codi
  • Interestingly, we found that the relative levels of androgen-regulated intronic transcripts could be correlated with the levels of the corresponding protein-coding gene ( asGAS6 and asDNAJC3 ) or with the alternative usage of exons ( asKDELR2 and asITGA6 ) in the corresponding protein-coding transcripts. (beds.ac.uk)
  • It has been suggested that this RNA gene evolved at least partly from a protein coding gene that became a pseudogene. (wikipedia.org)
  • found
  • We identified high-frequency QTLs and found evidence of selection near genes involved in malarial resistance and increased multiple sclerosis risk, reflecting the epidemiological history of Sardinia. (stanford.edu)
  • In spite of this bias, they compiled a database of protein trees from conserved genes that are found in all three of the proposed Domains. (blogspot.com)
  • We found that one of the genes, ceh-10 , specifies CAN fate. (genetics.org)
  • X-linked genes are found on the sex X chromosome. (wikipedia.org)
  • It is unknown whether a similar gene plays a role in human X inactivation, although a 2008 study found that skewing in humans is mostly caused by secondary events rather than a genetic tendency. (wikipedia.org)
  • The proportion of cats having the orange mutant gene found in calicoes was traced to the port cities along the Mediterranean in Greece, France, Spain and Italy, originating from Egypt. (wikipedia.org)
  • differences
  • Fundamental to the use of admixture mapping is the knowledge that the disease of interest exhibits frequency differences across the two populations because of genetic differences. (tripod.com)
  • biological
  • Genetic and cell biological analysis established that Sxl is required for the transition from stem cell to committed daughter cell by showing that the majority of Sxl- deficient germ cells have acquired an intermediate fate. (sdbonline.org)
  • The assumptions are that the resemblance between an adopted child and biological parent is due only to genetic effects, while that between the adopted child and the adoptive parent is only environmental in origin. (tripod.com)
  • studies
  • Studies have suggested an X linked gene or genes that control this effect, but the exact gene has not yet been identified. (wikipedia.org)
  • His later studies revealed the existence of two distinct replicon types and assisted in a wider understanding of the non-coding hsromega gene and its essential functions. (wikipedia.org)
  • variants
  • Previous researches have reported that a number of genetic variants were associated with the risk of BC [ 3 - 5 ]. (jcancer.org)
  • cell
  • The genes that are closer to the origin site would be replicated first and would consequently be present in two copies in the cell for a longer time than the genes that are closer to the termination site. (wikipedia.org)
  • Moreover, this clock was reconstructed in a test tube (i.e., in the absence of any cell components), proving that accurate 24-hour clocks can be formed without the need for genetic feedback circuits. (wikipedia.org)
  • reveal
  • Results of genetic epistasis experiments further reveal that bam 's differentiation-promoting function depends on Sxl . (sdbonline.org)
  • researchers
  • The researchers of the institute study the development of the immune system and analyse the genes and molecules which are important for its function. (wikipedia.org)
  • however
  • However, there are also other less common forms of dosage compensation, which are not as widely researched and are sometimes specific to only one species (as observed in certain bird and monotreme species). (wikipedia.org)