... is the number of copies of a particular gene present in a genome. Gene dosage is related to the amount of gene ... Changes in gene dosage can be a result of copy number variation (gene insertions or gene deletions), or aneuploidy (chromosome ... Thus gene dosage is increased by 50% for the genes on that chromosome. Though not fully understood, it is thought that the ... These slight gene dosage differences are responsible for variation in gene expression depending on their position on the ...

... and a few genes had equal expression in both male and female Z chromosomes. In chickens, most of the dosage compensated genes ... Dosage compensation is the process by which organisms equalize the expression of genes between members of different biological ... If the S. latifolia did not practice dosage compensation, the expected level of X-linked gene expression in males would be 50% ... 2009). "Dosage analysis of Z chromosome genes using microarray in silkworm, Bombyx mori". Insect Biochemistry and Molecular ...

Unusual gene dosage effect in heterozygotes". Hum. Genet. 77 (2): 168-71. doi:10.1007/BF00272386. PMID 3308682. S2CID 19941299 ... "Entrez Gene: PTS 6-pyruvoyltetrahydropterin synthase". Werner ER, Werner-Felmayer G, Fuchs D, et al. (1991). "Biochemistry and ... v t e (Articles with short description, Short description matches Wikidata, Genes on human chromosome 11, All stub articles, ... Thöny B, Blau N (1997). "Mutations in the GTP cyclohydrolase I and 6-pyruvoyl-tetrahydropterin synthase genes". Hum. Mutat. 10 ...

Gabriel JM, Erne B, Pareyson D, Sghirlanzoni A, Taroni F, Steck AJ (December 1997). "Gene dosage effects in hereditary ... A 2017 Cochrane systematic review found that daily dosages between (1800 - 3600) mg of gabapentin could provide good pain ... even at high dosages (200 - 400) mg. A 2013 Cochrane systematic review of topimirate found that the included data had a strong ...

September 2007). "Adipose is a conserved dosage-sensitive antiobesity gene". Cell Metabolism. 6 (3): 195-207. doi:10.1016/j. ... WDTC1 ("Adipose") is a gene associated with obesity. WDTC1 is a gene that codes for a protein acting as a suppressor in lipid ... Genes on human chromosome 1, Human gene pages with Wikidata item, All stub articles, Biochemistry stubs). ... "ScienceDaily: 'Skinny Gene' Exists". Retrieved 2007-09-05. Lai CQ, Parnell LD, Arnett DK, García-Bailo B, Tsai MY, Kabagambe EK ...

... discovery of the master control gene involved in sex determination; and studies of gene regulation, particularly dosage ... Meyer's work has revealed mechanisms of sex determination and dosage compensation-that balance X-chromosome gene expression ... Further analysis of the mechanism underlying dosage compensation produced many key insights into gene regulation. In 1990, ... But it wasn't clear whether the worms accomplished this by upregulating genes on the X chromosome in males or by downregulating ...

The dosage-sensitive genes vary from species to species. Birchler JA, Pal-Bhadra M, Bhadra U (March 2003). "Dosage dependent ... Natural selection occurs efficiently in Drosophila so the genes that are dosage-sensitive are increased. ... X hyperactivation is regulated by the alternative splicing of a gene called sex-lethal. The gene was named sex-lethal due to ... The X chromosome, compared to an autosomal gene, contains more silent genes which influences measuring the amount of influence ...

"Changes in histone gene dosage alter transcription in yeast". Genes & Development. 2 (2): 150-159. doi:10.1101/gad.2.2.150. ... Some modifications have been shown to be correlated with gene silencing; others seem to be correlated with gene activation. ... Promoters of active genes have nucleosome free regions (NFR). This allows for promoter DNA accessibility to various proteins, ... Studies looking at gene activation in vivo and, more astonishingly, remodeling in vitro have revealed that chromatin remodeling ...

It is assumed to be a dosage-sensitive gene. When this gene is not available in the 1q21.1 area it leads to microcephaly. ... HYDIN2 is a recent duplication (found only in humans) of the HYDIN gene found on 16q22.2. GJA5 has been identified as the gene ... New genes are expected in the gaps. Because the gaps are still a topic of research, it is hard to find the exact start and end ... In this way the number of chromosomes will be halved in each cell, while all the parts on the chromosome (genes) remain, after ...

Aneuploidy often alters gene dosage in ways that are detrimental to the organism; therefore, it is unlikely to spread through ... Comparative genomics DbDNV (2010) De novo gene birth Exon shuffling Gene fusion Horizontal gene transfer Human genome ... In addition, gene dosage effects play a significant role. Thus, most duplicates are lost within a short period, however, a ... Experiments on human gene function can often be carried out on other species if a homolog to a human gene can be found in the ...

It is assumed to be a dosage-sensitive gene. When this gene is not available in the 1q21.1 area, it leads to microcephaly. ... HYDIN2 is a recent duplication (found only in humans) of the HYDIN gene found on 16q22.2. Research on the genes CHD1L and ... New genes are expected in the gaps. Because the gaps are still a topic of research, it is hard to find the exact start and end ... Common variations in the BCL9 gene, which is in the distal area, confer risk of schizophrenia and may also be associated with ...

Gout, Jean-Francois; Lynch, Michael (2015). "Maintenance and Loss of Duplicated Genes by Dosage Subfunctionalization". ... of the original gene. First, a gene undergoes a gene duplication event. This event produces a new copy of the same gene known ... In this case, the two genes now only carry out the individual subfunctions of the original gene, and the organism is dependent ... The concept of subfunctionalization is that one original (ancestral) gene gives rise to two paralogous copies of that gene, ...

This results in deletions and duplications of dosage sensitive genes. It has been speculated that CNVs underlie a significant ... Variations near the gene FXYD6 have also been associated with schizophrenia in the UK but not in Japan. In 2008, rs7341475 ... A 2009 study was able to create mice matching symptoms of schizophrenia by the deletion of only one gene set, those of the ... Together, these candidate genes pointed to an importance of neurotransmission and immunology as important factors in the ...

Acampora, D; Avantaggiato, V; Tuorto, F; Simeone, A (1997). "Genetic control of brain morphogenesis through Otx gene dosage ... In zebrafish, it was shown that the expression of two SHH genes, SHH-a and SHH-b (formerly described as twhh) mark the MDO ... Hirata, T.; Nakazawa, M; Muraoka, O; Nakayama, R; Suda, Y; Hibi, M (2006). "Zinc-finger genes Fez and Fez-like function in the ... SHH signaling from the MDO induces a posterior-to-anterior wave of expression the proneural gene Neurogenin1 in the major ( ...

Papp, Balázs; Pál, Csaba; Hurst, Laurence D. (2003). "Dosage sensitivity and the evolution of gene families in yeast". Nature. ... Lercher, M.J.; Urrutia, A.O.; Hurst, L.D. (2002). "Clustering of housekeeping genes provides a unified model of gene order in ... This has resulted in work on housekeeping genes, gene orders, and the evolution of drug resistance in Staphylococcus aureus, ... Similarly, in showing that genomes are arranged into gene expression domains, Hurst revealed that genes can affect the ...

Chen, Jianping (2009). Molecular Basis of Gene Dosage Sensitivity (Ph.D.). Rice University. ISBN 9781109217346. ProQuest ... Proline-rich 12 (PRR12) is a protein of unknown function encoded by the gene PRR12. The Homo sapiens PRR12 gene is 34,785 base ... "PRR12 proline rich 12 [Homo sapiens (human)] - Gene - NCBI". Ncbi.nlm.nih.gov. Retrieved 2014-01-26. "PRR12 Gene - GeneCards , ... Within its gene neighborhood, PRR12 is flanked by PRRG2 and SCAF1 on the sense strand and RRAS and NOSIP on the antisense ...

Papp, Balázs; Pál, Csaba; Hurst, Laurence D. (July 2003). "Dosage sensitivity and the evolution of gene families in yeast". ... Birchler, J. A.; Veitia, R. A. (20 August 2012). "Gene balance hypothesis: Connecting issues of dosage sensitivity across ... They demonstrated that gene loss initiates adaptive genomic changes that rapidly restores fitness, but this process has ... They specifically tested what is now known as the dosage balance hypothesis. The hypothesis offers a synthesis on seemingly ...

"Temperature Sex Reversal Implies Sex Gene Dosage in a Reptile". Science. 316 (5823): 411. Bibcode:2007Sci...316..411Q. doi: ... Threshold changes in gene expression for either male- or female-determining factors is enough to change modes of sex ... Sex-determining mechanisms include genetic sex determination, where sex is determined by genes on sex chromosomes, and ... or hitchhiking genes. Sex-reversed female bearded dragons can lay twice as many eggs per year as genetic ZW females, suggesting ...

"Imprinted gene dosage is critical for the transition to independent life". Cell Metabolism. 15 (2): 209-221. doi:10.1016/j.cmet ... She moved to the biology department at Yale University to undertake a PhD identifying human Hox genes and characterising ... The team identified one of the first endogenous imprinted genes, and showed that the process was epigenetically regulated by ... Her research continues to forge links between DNA sequence, epigenetic modifications and gene regulation, and their impact on ...

gene dosage The number of copies of a particular gene present in a genome. Gene dosage directly influences the amount of gene ... Changes in gene dosage caused by mutations include copy-number variations. gene drive gene duplication A type of mutation ... gene expression The set of processes by which the information encoded in a gene is used in the synthesis of a gene product, ... dosage compensation Any mechanism by which organisms neutralize the large difference in gene dosage caused by the presence of ...

"HLA DQ gene dosage and risk and severity of celiac disease". Clinical Gastroenterology and Hepatology. 5 (12): 1406-12. doi: ... is a human gene and also denotes the genetic locus that contains this gene. The protein encoded by this gene is one of two ... "Entrez Gene: HLA-DQB1 major histocompatibility complex, class II, DQ beta 1". Lau M, Terasaki PI, Park MS (1994). " ... v t e (Articles with short description, Short description matches Wikidata, Genes on human chromosome 6, MHC class II, All stub ...

"Dosage analysis of cancer predisposition genes by multiplex ligation-dependent probe amplification". Br. J. Cancer. 91 (6): ... then the dosage quotient DQ = (a/b) / (A/B). Although dosage quotients may be calculated for any pair of amplicons, it is ... detection of gene copy number, detection of duplications and deletions in human cancer predisposition genes such as BRCA1, ... Dosage quotient analysis is the usual method of interpreting MLPA data. If a and b are the signals from two amplicons in the ...

Tissenbaum, H.A.; L. Guarente (2001). "Increased dosage of a sir-2 gene extends lifespan in Caenorhabditis elegans". Nature. ... For the first nine years, his lab studied gene regulation in yeast. In 1991 his lab started to study genes involved in aging. ... In 1993, Cynthia Kenyon's lab at UCSF discovered that a single-gene mutation in (Daf-2) could double the lifespan of C. elegans ... In 1995 the Guarente lab identified the gene SIR4 (Silent information regulator 4) as a longevity regulator. When SIR4 was ...

Trieu M, Ma A, Eng SR, Fedtsova N, Turner EE (Jan 2003). "Direct autoregulation and gene dosage compensation by POU-domain ... Trieu M, Ma A, Eng SR, Fedtsova N, Turner EE (Jan 2003). "Direct autoregulation and gene dosage compensation by POU-domain ... This can be explained by gene dosage compensation due to autoregulation, in which expression of the remaining copy of the ... "Entrez Gene: POU4F1 POU domain, class 4, transcription factor 1". Gerrero MR, McEvilly RJ, Turner E, Lin CR, O'Connell S, Jenne ...

For example, increasing the gene dosage of the gene SIR-2, which regulates DNA packaging in the nematode worm Caenorhabditis ... Tissenbaum HA, Guarente L (March 2001). "Increased dosage of a sir-2 gene extends lifespan in Caenorhabditis elegans". Nature. ... The gene designations shown in red, gray or cyan indicate genes frequently epigenetically altered in various types of cancers. ... In particular, the gene-rich, early-replicating regions of the human genome exhibit lower mutation frequencies than the gene- ...

Changes in gene dosage, the number of times a given gene is present in the cell nucleus, can create a genetic imbalance. This ... Diminishing the dosage of most genes produces no obvious change in phenotype. For some genes the phenotypic consequences of a ... For some rare genes, the normal diploid level of gene expression is essential to individual survival; fewer than two copies of ... Genetic imbalance is to describe situation when the genome of a cell or organism has more copies of some genes than other genes ...

The haploinsufficiency is caused by the copy-number variation (CNV) of 28 genes led by the deletion of ~1.6 Mb. These dosage- ... The alteration in the gene dosage, which is caused by the loss of a functional allele, is also called allelic insufficiency. ... This leads to too many or too few of the dosage sensitive genes. The genomic rearrangements, that is, deletions or duplications ... There are two wild-type alleles of this gene-a high-expressivity allele and a low-expressivity allele. When the mutant gene is ...

Dallapiccola B, Novelli G, Giannotti A (1988). "Deletion 2q31.3----2q33.3: gene dosage effect of ribulose 5-phosphate 3- ... "Entrez Gene: RPE ribulose-5-phosphate-3-epimerase". Boss GR, Pilz RB (1985). "Phosphoribosylpyrophosphate synthesis from ... v t e (Articles with short description, Short description matches Wikidata, Articles to be expanded from May 2016, Genes on ... Ribulose-phosphate 3-epimerase is an enzyme that in humans is encoded by the RPE gene. GRCh38: Ensembl release 89: ...

Coordinate inter-genomic gene expression Duplicated genes often result in increased dosage of gene products. Doubled dosages ... The mechanism of retaining duplicated genes is poorly understood. It has been hypothesized that dosage balance may play a key ... First, the eliminated copy restores the normal gene dosage in the diploid organism. Second, the changes in chromosomal genetic ... The main goals of diploidization are: (1) To ensure proper gene dosage; and (2) to maintain stable cellular division processes ...

Huang GY, Wessels A, Smith BR, Linask KK, Ewart JL, Lo CW (1998). "Alteration in connexin 43 gap junction gene dosage impairs ... Thus, β-catenin is stabilized in the presence of Wnt and regulates gene transcription through interaction with TCF/LEF ... Cardiac neural crest cells express Hox genes that supports the development of arteries 3, 4 and 6 and the simultaneous ... regression of arteries 1 and 2. The ablation of Hox genes on cardiac neural crest cells causes defective outflow septation. One ...