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*  X-inactivation
Since individuals of either sex will receive two copies of every gene in a pseudoautosomal region, no dosage compensation is ... in females that are heterozygous at the involved gene or genes than in females that are homozygous at that gene or those genes ... meaning that the Tsix gene overlaps the Xist gene and is transcribed on the opposite strand of DNA from the Xist gene. Tsix is ... The silencing of genes along the Xi occurs soon after coating by Xist RNA. Like Xist, the Tsix gene encodes a large RNA which ...
*  Gene duplication
Aneuploidy often alters gene dosage in ways that are detrimental to the organism; therefore, it is unlikely to spread through ... 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 ... greatly facilitating the evolutionary studies of gene regulation after gene duplication or speciation. Gene duplications can ... Whole genome duplications are thought to be less detrimental than aneuploidy as the relative dosage of individual genes should ...
*  Gene dosage
... is the number of copies of a particular gene present in a genome. Gene dosage is known to be related to the amount ... These slight gene dosage differences are responsible for variation in gene expression depending on the position on the ... Nonetheless, changes in gene dosage (copy number variations) due to gene insertions or deletions can have significant ... The bacterial chromosome is present only in one copy per cell, but there can still be variation in gene dosage due to DNA ...
*  Diploidization
1. Coordinate inter-genomic gene expression: Duplicated genes often result in increased dosage of gene products. Doubled ... It has been hypothesized that dosage balance may play a key role in shaping the evolutionary fates of duplicated genes (1). ... The main goals of diploidization are: 1. To ensure proper gene dosage 2. To maintain stable cellular division processes. It ... First, the eliminated copy restores the normal gene dosage in the diploid organism (1). Second, the changes in chromosomal ...
*  PTS (gene)
Unusual gene dosage effect in heterozygotes". Hum. Genet. 77 (2): 168-71. doi:10.1007/BF00272386. PMID 3308682. Oppliger T, ... Thöny B, Blau N (1997). "Mutations in the GTP cyclohydrolase I and 6-pyruvoyl-tetrahydropterin synthase genes". Hum. Mutat. 10 ... Thöny B, Heizmann CW, Mattei MG (1994). "Chromosomal location of two human genes encoding tetrahydrobiopterin-metabolizing ... 6-pyruvoyltetrahydropterin synthase, also known as PTS, is a human gene which facilitates folate biosynthesis. 6- ...
*  Peripheral neuropathy
Gabriel JM, Erne B, Pareyson D, Sghirlanzoni A, Taroni F, Steck AJ (December 1997). "Gene dosage effects in hereditary ...
*  Thalamus
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 ( ...
*  Proline-rich 12
Chen, Jianping (2009). Molecular Basis of Gene Dosage Sensitivity (Ph.D.). Rice University. ISBN 9781109217346. Williamson MP ( ... Proline-rich 12 (PRR12) is a protein of unknown function encoded by the gene PRR12. The Homo sapiens PRR12 gene is 34,785 base ... Gene - NCBI". Ncbi.nlm.nih.gov. Retrieved 2014-01-26. "PRR12 Gene - GeneCards , PRR12 Protein , PRR12 Antibody". GeneCards. ... Within its gene neighborhood, PRR12 is flanked by PRRG2 and SCAF1 on the sense strand and RRAS and NOSIP on the antisense ...
*  Anne Ferguson-Smith
"Imprinted gene dosage is critical for the transition to independent life". Cell Metabolism. 15 (2): 209-221. doi:10.1016/j.cmet ... Ferguson-Smith, Anne Carla (1989). A genomic analysis of the human homeobox gene loci HOX 1 and HOX 2 (PhD thesis). proquest. ... 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 ...
*  HLA-DQB1
"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 ... 0302 encode genes that mediate the autoimmune coeliac disease. Homozygotes of DQB1*0201 have a higher risk of developing the ... "Entrez Gene: HLA-DQB1 major histocompatibility complex, class II, DQ beta 1". Lau M, Terasaki PI, Park MS (1994). " ...
*  POU4F1
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 ...
*  RPE (gene)
Dallapiccola B, Novelli G, Giannotti A (1988). "Deletion 2q31.3----2q33.3: gene dosage effect of ribulose 5-phosphate 3- ... Ribulose-phosphate 3-epimerase is an enzyme that in humans is encoded by the RPE gene. GRCh38: Ensembl release 89: ... 2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome ... 2001). "Characterization of 16 novel human genes showing high similarity to yeast sequences". Yeast. 18 (1): 69-80. doi:10.1002 ...
*  Qrr RNA
Svenningsen SL, Tu KC, Bassler BL (2009). "Gene dosage compensation calibrates four regulatory RNAs to control Vibrio cholerae ... There are 5 different qrr genes (Qrr1-5) in V. harveyi; of these, qrr2, 3 and 4 are activated by LuxR. Lenz, DH; Mok KC; Lilley ... In Vibrio harveyi, Qrr binds and represses expression of the luxR mRNA transcript, a master regulator of quorum-sensing genes. ...
*  PSPH
Novelli G, Dallapiccola B (1989). "Gene dosage studies regionally assign the phosphoserine phosphatase gene to 7p15.1 or 2". ... "Gene dosage effect in acquired monosomy 7: distinct behaviour of beta-glucuronidase and phosphoserine phosphatase". Genes, ... Phosphoserine phosphatase is an enzyme that in humans is encoded by the PSPH gene. The protein encoded by this gene belongs to ... "Entrez Gene: PSPH phosphoserine phosphatase". Acuna-Hidalgo R, Schanze D, Kariminejad A, Nordgren A, Kariminejad MH, Conner P, ...
*  Contiguous gene syndrome
Mechanisms and Consequences of Gene Dosage Imbalance". In Scriver, C.W.; Beaudet, A.L.; Sly, W.S.; et al. Metabolic and ... A contiguous gene syndrome (CGS), also known as a contiguous gene deletion syndrome is a clinical phenotype caused by a ... Shaffer, Lisa G.; Ledbetter, David H.; Lupski, James R. (2004). "Molecular Cytogenetics of Contiguous Gene Syndromes: ... researchers were able to use this information to clone the genes responsible for DMD and CGD. One of those more common CGS ...
*  X-linked ichthyosis
... a non inactivated X-locus with partial gene dosage compensation". Hum. Genet. 65 (4): 355-7. doi:10.1007/BF00291559. PMID ... Therefore, in normal individuals, males carry a single copy of the STS gene and females carry two copies. This gene partially ... The STS gene is located on the X chromosome at band Xp22.3. Thus, the syndrome is an X-linked condition, and it affects males ... XLI manifests with dry, scaly skin and is due to deletions or mutations in the STS gene. XLI can also occur in the context of ...
*  Knudson hypothesis
"ATR functions as a gene dosage‐dependent tumor suppressor on a mismatch repair‐deficient background". The EMBO Journal. 23 (15 ... Some tumor suppressor genes have been found to be "dose-dependent" so that inhibition of one copy of the gene (either via ... The exact function of some tumor suppressor genes is not currently known (e.g. MEN1, WT1), but based on these genes following ... and on the deactivation of tumor suppressor genes, which are genes that keep proliferation in check. Knudson's hypothesis ...
*  Linezolid
Besier S, Ludwig A, Zander J, Brade V, Wichelhaus TA (April 2008). "Linezolid Resistance in Staphylococcus aureus: Gene Dosage ... No dosage adjustments are required in the elderly, in people with mild-to-moderate liver failure, or in those with impaired ... Many months of treatment are often required, and the rate of adverse effects is high regardless of dosage. There is not enough ... Linezolid was found to have a pharmacokinetic advantage-requiring only twice-daily dosage, while eperezolid needed to be given ...
*  FABP7
"Overexpression of FABP7 in Down syndrome fetal brains is associated with PKNOX1 gene-dosage imbalance". Nucleic Acids Research ... "An association screen of myelin-related genes implicates the chromosome 22q11 PIK4CA gene in schizophrenia". Molecular ... The protein encoded by this gene is a brain fatty acid binding protein. Fatty acid binding proteins (FABPs) are a family of ... The effect of the gene in the latter study was stronger in males. This study also linked FABP7 variation to weak prepulse ...
*  P300-CBP coactivator family
Yao TP, Oh SP, Fuchs M, Zhou ND, Ch'ng LE, Newsome D, Bronson RT, Li E, Livingston DM, Eckner R (May 1998). "Gene dosage- ... p300 and CBP are thought to increase gene expression in three ways: by relaxing the chromatin structure at the gene promoter ... These mutations result in the loss of one copy of the gene in each cell, which reduces the amount of CBP or p300 protein by ... In addition, mice which lack one functional copy (allele) of both the CBP and p300 genes (i.e. are heterozygous for both CBP ...
*  Histone octamer
"Gene dosage-dependent embryonic development and proliferation defects in mice lacking the transcriptional integrator p300". ... The tails play roles both in inter and intra nucleosomal interactions that ultimately influence gene access. Histones are ... Molecular biology of the gene (Seventh edition. ed.). Boston: Benjamin-Cummings Publishing Company. p. 241. ISBN 0321762436. ... making it more open to gene transcription (expression). Moreover, these flexible units direct DNA wrapping in a left-handed ...
*  Myosin binding protein C, cardiac
This suggests that a gene-dosage effect might be responsible for manifestations at a younger age. A total of 51 cases of ... AAV-mediated gene transfer of the full-length Mybpc3 (defined as "gene replacement") dose-dependently prevents the development ... The myosin-binding protein C, cardiac-type is a protein that in humans is encoded by the MYBPC3 gene. This isoform is expressed ... For the human MYBPC3 gene, skipping of 6 single exons or 5 double exons with specific AONs would result in shortened in-frame ...
*  KIAA1704
... identification of gene-dosage regulated candidate genes". Br. J. Haematol. 143 (2): 210-21. doi:10.1111/j.1365-2141.2008.07334. ... One splice variant undergoes non-sense mediated decay while another is predicted to splice the gene directly in half and retain ... KIAA1704 is located on the positive strand surrounded by 5 nearby genes. Positive Orientation General Transcription Factor IIF ... gene. The function of KIAA1704 is not yet well understood. KIAA1704 contains one domain of unknown function, DUF3752. The ...
*  BRCA1
"Real-time PCR-based gene dosage assay for detecting BRCA1 rearrangements in breast-ovarian cancer families". Clin. Genet. 65 (2 ... BRCA1 is a human tumor suppressor gene (to be specific, a caretaker gene), found in all humans; its protein, also called by the ... invalidating Myriad's patents on the BRCA1 and BRCA2 genes. However, the Court also held that manipulation of a gene to create ... The human BRCA1 gene is located on the long (q) arm of chromosome 17 at region 2 band 1, from base pair 41,196,312 to base pair ...
*  Dup15q
"Increased gene dosage of Ube3a results in autism traits and decreased glutamate synaptic transmission in mice." Science ... Interstitial duplications are typically partial trisomies (i.e., one extra copy of each gene) and features these extra gene ... and feature an extranumerary chromosome that contains the extra genes. Many important genes in the 15q11.2-13.1 region likely ... Important genes likely involved in the etiology of Dup15q syndrome include UBE3A, GABRA5, GABRB3, and GABRG3. UBE3A is a ...
*  Sumatriptan
Several dosage forms for sumatriptan have been approved, including tablets, solution for injection, and nasal inhalers. On ... Sumatriptan's primary therapeutic effect, however, is in its inhibition of the release of Calcitonin gene-related peptide (CGRP ... "Sumatriptan Causes Parallel Decrease in Plasma Calcitonin Gene-Related Peptide (CGRP) Concentration and Migraine Headache ...
*  Mir-802 microRNA precursor family
Elton, T. S.; Sansom, S. E.; Martin, M. M. (2010). "Trisomy-21 gene dosage over-expression of miRNAs results in the ... Elton TS, Sansom SE, Martin MM (2010). "Trisomy-21 gene dosage over-expression of miRNAs results in the haploinsufficiency of ... Human chromosome 21 (Hsa21) has been found to harbour over 400 different genes, with miR-802 among these. Along with miRNAs-99a ... MicroRNAs function to regulate the expression levels of other genes by several mechanisms. miR-802 expression in the kidney is ...