Alpha globin gene cluster. Medical search. Frequent questions

Beta thalassemia results from beta-globin gene mutations that impair beta-globin chain synthesis. (medscape.com)
Our findings highlight genetic variants around the α-globin genes as surrogate markers for common α-thalassemia mutations in Taiwan, emphasizing the causal links between α-thalassemia-related erythrocyte indices, cardiometabolic traits, and heightened diabetes risk. (bvsalud.org)
Mutations and globin haplotype were identified by DNA analysis. (bvsalud.org)
Mutations and gene deletions causing the thalassemia genotype have arisen independently in different populations but have subsequently propagated by means of natural selection. (medscape.com)
More than 20 different genetic mutations resulting in the functional deletion of both pairs of alpha-globin genes (--/--) have been identified. (medscape.com)
There are more than 15 different genetic mutations that result in decreased production of alpha globin, usually through functional deletion of 1 or more of the 4 alpha-globin genes. (medscape.com)
Mutations in this gene are associated with an X-linked mental retardation (XLMR) syndrome most often accompanied by alpha-thalassemia (ATRX) syndrome. (arigobio.com)
These mutations have been shown to cause diverse changes in the pattern of DNA methylation, which may provide a link between chromatin remodeling, DNA methylation, and gene expression in developmental processes. (arigobio.com)
Did the high-altitude populations of two Andean duck species acquire identical variation in beta-globin genes by chance mutations, or between-species hybridization? (nature.com)
Thus was I observing identical changes in beta-globin and the HIF pathway in Speckled Teal and Yellow-billed Pintail due to chance mutations (i.e., convergent evolution) or something else? (nature.com)
Intelligent-design proponents may accept some aspects of common descent, as long as they are allowed to claim that a "designer" interfered with the genes and mutations along the way, then deferring what's not explained to "we don't know" what happened. (rationalwiki.org)
β-thalassemia results from numerous mutations or rarely deletions of the β globin gene on chromosome 11. (scirp.org)
These mutations primarily point mutations that affect transcriptional control, translation, and splicing of the Hb B gene and gene product [2]. (scirp.org)
Mutations in gene are in charge of ATR-X symptoms [29,30], a pathology not the same as RTT medically, but with some overlapping neurological phenotypes. (saussurea.org)

Expression of these genes is regulated in embryonic erythropoiesis by many transcription factors, including KLF1, which is associated with the upregulation of adult hemoglobin in adult definitive erythrocytes, and KLF2, which is vital to the expression of embryonic hemoglobin. (wikipedia.org)
Hemoglobin subunit epsilon is a protein that in humans is encoded by the HBE1 gene. (wikiversity.org)
They are characterized by reduced or absent production of 1 or more of the globin chains of which human hemoglobin is composed. (medscape.com)
The oxygen carrying capability of the red blood cells (RBCs) relies on hemoglobin, a tetramer protein that comprises 4 globin chains bound to the heme molecule. (medscape.com)
The dominant hemoglobin in adults (hemoglobin A) is composed of 2 alpha and 2 beta chains. (medscape.com)
Two minor forms of hemoglobin constitute a small percentage of normal blood: hemoglobin F (fetal), composed of 2 alpha chains and 2 gamma chains, and hemoglobin A2, composed of 2 alpha chains and 2 delta chains. (medscape.com)
The resulting disorder is referred to as hydrops fetalis, alpha thalassemia major, or hemoglobin Bart's. (medscape.com)
Individuals with this disorder cannot produce any functional alpha globin and thus are unable to make any functional hemoglobin A, F, or A2. (medscape.com)
The deletions in the zeta-alpha globin gene cluster in two infants with the hemoglobin Bart's hydrops fetalis syndrome (homozygous alpha thalassemia 1) have been mapped by restriction endonuclease analysis using a zeta-specific probe. (ox.ac.uk)
The beta chain of embryonic hemoglobin is formed by epislon globin, that is soon replaced by gamma globins in 3 months. (biologybard.com)
Interestingly, the globins from the lamprey, sea hare and the legumes are as distant from one another as are α-hemoglobin and β-hemoglobin from myoglobin. (pharmaceuticalintelligence.com)
The species for which myoglobin is used will cluster together far away from the related species for which hemoglobin is selected. (icr.org)
In a study on vertebrate globins, Jay Storz and his colleagues wrote, "The retention of the proto- Hb and Mb genes in the ancestor of jawed vertebrates permitted a physiological division of labor between the oxygen-carrier function of Hb [hemoglobin] and the oxygen-storage function of Mb [myoglobin]. (icr.org)
There are over 300 alleles (one of two or more forms of a gene that produce variations in a given trait) for the hemoglobin gene, part of the globin gene superfamily. (icr.org)
Sickle cell disease is an inherited genetic disorder, resulting from homozygous and compound heterozygote mutation in the β globin gene as a single base-pair point mutation (GAG to GTG) results in the substitution of glutamic acid (hydrophilic) to Valine (hydrophobic) in the 6th position of the β-chain of hemoglobin resulting in hemoglobin S formation [7]. (scirp.org)

Expression of all of these genes is controlled by single locus control region (LCR), and the genes are differentially expressed throughout development. (wikipedia.org)
The LCR (Locus Control Region) is a regulatory site that activates these genes and this is also crucial to activate transcription of any of the beta-globin genes. (biologybard.com)

DNA analysis showed no deletions within the alpha-globin gene cluster. (findzebra.com)

1 Genetic markers related to the severity of outcomes in sickle cell disease include β-globin cluster haplotypes, X-chromosome-linked Fcell production loci (X-linkage), and the number of α-globin genes. (touchoncology.com)
they include thalassemia syndromes, sickle cell disease & globin chain variants [1]. (scirp.org)
Sickle cell disease ( SCD ) is considered as one of the commonest gene disorders of human beings. (scirp.org)

The human β-globin locus is composed of five genes located on a short region of chromosome 11, responsible for the creation of the beta parts (roughly half) of the oxygen transport protein Haemoglobin. (wikipedia.org)
alpha polypeptide, also known as FCER1A, is a protein which in humans is encoded by the FCER1A gene. (wikiversity.org)
This gene encodes two proteins: sterol carrier protein X (SCPx) and sterol carrier protein 2 (SCP2), as a result of transcription initiation from 2 independently regulated promoters. (wikiversity.org)
This gene may represent a mammalian heterochromatic gene, encoding a putative RNA-binding protein similar to the yeast Luc7p subunit of the U1 snRNP splicing complex that is normally required for 5' splice site selection. (ox.ac.uk)
The protein encoded by this gene contains an ATPase/helicase domain, and thus it belongs to the SWI/SNF family of chromatin remodeling proteins. (arigobio.com)
This protein is found to undergo cell cycle-dependent phosphorylation, which regulates its nuclear matrix and chromatin association, and suggests its involvement in the gene regulation at interphase and chromosomal segregation in mitosis. (arigobio.com)
Increase in blood sugar level increases insulin synthesis mainly by 2 processes: by activating and increasing transcription of insulin gene and increasing protein translation. (biologybard.com)
Some genes no longer code for a protein due to a mutation or error. (rationalwiki.org)
The pathology is caused by a mutation in the huntingtin gene which results in the production of an abnormal protein, mutant huntingtin (mHtt). (bmj.com)
Besides MeCP2, additional protein accumulate at PCH, like the Change/Sucrose NonFermentable (SWI/SNF)-like chromatin redesigning proteins Alpha-thalassemia/mental retardation symptoms X-linked proteins (ATRX) [21] and people from the heterochromatin proteins 1 (Horsepower1) family members [22,23]. (saussurea.org)

A DNA segment located between the HBG1 and HBD genes is one of the DNA segments bound by BCL11A and several other proteins to negatively regulate HBG1 and HBG2. (wikipedia.org)
An enhancer located 3′ of the HBG1 gene is bound by several proteins in PBDEs and K562 cells and is sensitive to DNase I, but shows almost no signal for mammalian constraint. (wikipedia.org)
In the case of genes that are used to produce proteins, the RNA polymerase II holoenzyme that actually performs the transcription from the template strand needs to find chemical cues for attachment to the DNA and where to begin transcription. (wikiversity.org)
Genes provide the instructive and regulative blueprint that is expressed in form of proteins that have several important structural and functional roles indispensable for survival. (biologybard.com)
A genetic switch can be regulated or tripped by different molecular mechanisms like activation of transcription of the gene, increased translation or post-translational modifications of proteins that may activate it. (biologybard.com)
Alpha-crystallins also act as molecular chaperones that bind to denatured proteins, keep them in solution and thereby maintain the translucency of the lens. (lookformedical.com)
The proteins exist as large oligomers that are formed from ALPHA-CRYSTALLIN A CHAIN and ALPHA-CRYSTALLIN B CHAIN subunits. (lookformedical.com)
gene, was identified in 1992 like a proteins PF-06447475 in a position to bind methylated DNA [1] specifically. (saussurea.org)

Each of these active genes at a specfic developmental stage produces a beta-globin. (biologybard.com)
The developmental order of these genes include epsilon, gamma-G, gamma-A, delta and beta. (biologybard.com)
Mouse α-globin genes, which lack an annotated CGI, exhibit tightly regulated tissue and developmental stage-specific regulation similar to that observed for the human α-globin genes, which contain a CGI and are regulated by PcG [ 9 ]. (biomedcentral.com)
This conserved state screams common ancestry, and the field of evolutionary development has expanded our knowledge of developmental genes and their consequent embryo ontogeny to amazing levels of detail, all thanks to acknowledging common descent. (rationalwiki.org)
Treatment with a retinoic acid receptor alpha agonist (AM580) during the first six days of stroma co-culture induces the expression of developmental regulators that demarcate the definitive HSC genetic program, including the HOXA genes. (researchsquare.com)
Despite their close molecular correlation to foetal liver HSCs, they are unable to induce the expression of key developmental regulators associated with the HSC fate, such as the HOXA genes. (researchsquare.com)
We show that treatment of EB-derived CD34+ cells with a pulse of retinoic acid receptor alpha agonist (AM580) during the first days of stroma co-culture promotes the definitive HSC fate by inducing the expression of developmental regulators of definitive HSC genetic program, while suppressing genes associated with differentiation primed progenitors. (researchsquare.com)
1983). A beneficial satellite DNA marker is wonderful for telephone origin education just like the it's easy to find from the hybridization regarding cells parts and you will it is contained in the muscle despite gene hobby otherwise developmental county. (euroflexcargo.eu)

The arrangement of the genes directly reflects the temporal differentiation of their expression during development, with the early-embryonic stage version of the gene located closest to the LCR. (wikipedia.org)
The major positive erythroid-specific regulatory element controlling alpha-globin gene expression lies equidistant between the promoters of the alpha-globin genes and the 3-methyladenine DNA glycosylase gene. (ox.ac.uk)
Interestingly, in contrast to the alpha-globin genes, expression of the 3-methyladenine DNA glycosylase gene is not influenced by the regulatory element in the human erythroleukemia cell line K562. (ox.ac.uk)
Alpha thalassemia syndromes are caused by deficient expression of 1 or more of the 4 alpha-globin genes on chromosome 16 and are characterized by absent or reduced synthesis of alpha-globin chains. (medscape.com)
however, their phenotypic expression may be described in simplified clinical terms related to the number of inherited alpha-globin genes. (medscape.com)
The authors suggested that the responsible locus encoded a trans-acting factor involved in the normal regulation of alpha-globin expression. (findzebra.com)
Participates in the allele-specific gene expression at the imprinted IGF2/H19 gene locus. (arigobio.com)
Adventitious changes in long-range gene expression caused by polymorphic structural variation and promoter competition. (ox.ac.uk)
It is well established that all of the cis-acting sequences required for fully regulated human alpha-globin expression are contained within a region of approximately 120 kb of conserved synteny. (ox.ac.uk)
Here, we show that activation of this cluster in erythroid cells dramatically affects expression of apparently unrelated and noncontiguous genes in the 500 kb surrounding this domain, including a gene (NME4) located 300 kb from the alpha-globin cluster. (ox.ac.uk)
Changes in NME4 expression are mediated by physical cis-interactions between this gene and the alpha-globin regulatory elements. (ox.ac.uk)
Polymorphic structural variation within the globin cluster, altering the number of alpha-globin genes, affects the pattern of NME4 expression by altering the competition for the shared alpha-globin regulatory elements. (ox.ac.uk)
The expression of skin color results from the interplay of several genes like tyrosinase which starts of the reaction by converting tyrosine to L-DOPA. (biologybard.com)
5 3 Herein, we have developed and performed a targeted small molecule screen to identify compounds which downregulate α-globin expression. (haematologica.org)
This identified IOX1, a pan-histone demethylase inhibitor, which selectively downregulates α-globin expression without perturbing erythroid differentiation or general gene expression, more specifically β-like globin expression. (haematologica.org)
Our data show that selective silencing of α-globin expression in erythroid cells is pharmacologically feasible, and IOX1 is a lead compound to developing new therapy to treat β-thalassemia through the novel pathway of downregulating α-globin expression. (haematologica.org)
As docking units, they influence the recruitment of the transcriptional machinery, thus establishing unique gene expression patterns that ultimately promote different biological outcomes. (aging-us.com)
Hb F expression is affected by several quantitative trait loci (QTL) within and outside the β globin gene cluster. (scirp.org)
However, a profound variation in colony morphology, growth rate, BrdU incorporation, and relative abundance of gene expression in undifferentiated and differentiated states of the cell lines was observed. (biomedcentral.com)
The enhanced mito chondrial gene expression in BHDS samples suggests that wild kind FLCN is vital for efficient mitochon drial perform and that lack of functional FLCN prospects to a yet unknown mitochondrial dysfunction. (mirnamimics.com)
The coupling of alternative splicing with NMD is intriguing and could provide a general means of regulating gene expression. (berkeley.edu)
Loss of Tada2b or Taf5l inhibited hematopoiesis in vivo and was associated with upregulation of interferon response gene expression. (biorxiv.org)

Though all the cells comprise the same genetic information, they become differentiated to perform a particular function better and in this process utilize only a subset of the genes. (biologybard.com)
2 Clinical genetic data accumulated over the last 30 years indicate that a natural reduction in α-globin chain output by 25-50%, resulting from co-inherited α-thalassemia, ameliorates the disease phenotype in patients with β-thalassemia. (haematologica.org)

In case of humans, the cluster of beta-globin is found on chromosome 11 and comprise of 1 pseudogene and 5 active genes. (biologybard.com)

PF-06447475 3D-DNA fluorescence in situ hybridization (Seafood) highlighted, for the very first time, a contribution of ATRX in MeCP2-mediated chromocenter clustering during neural differentiation. (saussurea.org)
During myogenic and neural differentiation, chromocenters become bigger and their quantity decreases, because of the fusion of the constructions, following a procedure known as chromocenter clustering [24,25]. (saussurea.org)
In 2012, we proven that MeCP2 takes on a key part for chromocenter clustering during neural differentiation [24], that strengthens proven fact that MeCP2 features in large-scale chromatin structures. (saussurea.org)

Genes that regulate both the synthesis and the structure of different globins are organized into 2 separate clusters. (medscape.com)

Many CRMs have been mapped within the cluster of genes encoding β-like globins expressed in embryonic (HBE1), fetal (HBG1 and HBG2), and adult (HBB and HBD) erythroid cells. (wikipedia.org)
Using cloned chicken β A -globin genes, either individually or within the natural chromosomal locus, enhancer-dependent transcription is achieved in vitro at a distance of 2 kb with developmentally staged erythroid extracts. (wikiversity.org)
These cells have the ability to generate progeny associated with definitive haematopoiesis (adult globin expressing erythroid cells and T-lymphocytes) but have limited expansion ability in vitro and cannot engraft in vivo. (researchsquare.com)
HBS1L-MYB genes are expressed in the precursor cells of the erythroid. (scirp.org)

Establishing the full extent of the human 16pHQG;16 gene has allowed us to define the centromeric limit of the region of conserved synteny around the human alpha-globin cluster to within an 8-kb segment of chromosome 16. (ox.ac.uk)
We recently reported the presence of four genes lying between the human alpha-globin gene cluster and the telomere of the short arm of chromosome 16 (16p). (ox.ac.uk)
The alpha-globin genes are encoded on chromosome 16, and the gamma-, delta-, and beta-globin genes are encoded on chromosome 11. (medscape.com)
Alpha-chain genes in duplication on chromosome 16 pairing with non-alpha chains to produce various normal hemoglobins. (medscape.com)

New alpha-such as department also has lengthened by unequal crossing-over with the a great class away from three family genes - one to practical throughout embryogenesis as well as 2 functional throughout the adult - towards the mouse chromosome eleven (Leder et al. (euroflexcargo.eu)
1981). writers video chat The two mature leader family genes are very similar on DNA series level, which is a sign from an incredibly current replication skills otherwise concerted development (find Point 5.step three.step three.3). (euroflexcargo.eu)
The solution is the fact during the at the least some cases, the newest ethics out of family genes within this a beneficial clustered friends is truly important to focus. (euroflexcargo.eu)

At birth, The 2 adult hemoglobins present at birth are beta globin and delta globin. (biologybard.com)
The red color is from several complex hemoglobins that have 144 globin chains. (icr.org)

Determination of HbF level, α-globin gene cluster haplotype, and the α-gene number was undertaken as described previously. (touchoncology.com)

A very tightly controlled globin chain production process keeps the ratio of alpha chains to non-alpha chains at 1.00 (± 0.05). (medscape.com)
Abnormal production of alpha-globin chains results in a relative excess of gamma-globin chains in fetuses and newborns and of beta-globin chains in children and adults. (medscape.com)
It is comprised of 2 alpha and 2 beta polypeptide chains that are encoded by genes on two different chromosomes. (biologybard.com)
1 The accumulation of free excess α-globin chains in red blood cells and their precursors, as a result of the decreased production of β-globin, is believed to be the main pathophysiological mechanism leading to hemolytic anemia and ineffective erythropoiesis in β-thalassemia. (haematologica.org)
It's designed as four subunits (two alpha and two beta chains), each with an eight-helix folded pattern. (icr.org)

The gene comprises five exons, representation of which differs in independently isolated cDNA clones. (ox.ac.uk)
The only general conclusion that can be drawn from these analyses, however, is that alternative splicing affects genes of nearly every functional class by modifying gene structure in every conceivable way, such as using mutually exclusive exons or alternative donor sites. (berkeley.edu)

A distal promoter in the S-phase has a role in the control of the human H1.2 histone gene transcription. (wikiversity.org)
Acts as negative regulator of chromatin incorporation of transcriptionally repressive histone H2AFY, particularily at telomeres and the alpha-globin cluster in erythroleukemic cells. (arigobio.com)
MeCP2 can be a get better at epigenetic modulator of transcription [2,3,4] that mediates gene silencing via methylation-dependent chromatin redesigning, through the recruitment of histone co-repressors and deacetylases, such as for example histone deacetylase 1 (HDAC1) and switch-independent 3A (Sin3A), [5] respectively. (saussurea.org)

Although the gene is widely expressed, the abundance of its mRNA is considerably higher in a colon adenocarcinoma cell line (HT29) than in other cell lines that were tested. (ox.ac.uk)
Although several approaches failed to find a defect in the alpha-globin genes, 3 patients tested had markedly reduced total mRNA levels of both HBA1 and HBA2. (findzebra.com)
Gene density is defined as the percentage of bases covered either by Ensembl genes or human mRNA best Blat alignments in the UCSC Genome Browser database. (ucsc.edu)

Chromosome fusion - Gene fusion or chromosome fusion is when two chromosomes are spliced together. (rationalwiki.org)

The AM580 induced genes include the HOXA cluster genes and other HSC transcriptional regulators and HSC surface markers. (researchsquare.com)

Structure of the human 3-methyladenine DNA glycosylase gene and localization close to the 16p telomere. (ox.ac.uk)

The thalassemias are a group of inherited disorders in which globin chain production is reduced or absent. (medscape.com)
Alpha thalassemias may be broadly classified according to whether the loss of alpha-globin genes is complete or partial-that is, alpha(0) thalassemia or alpha(+) thalassemia. (medscape.com)
see alpha-thalassemias, 141800) and mental retardation in 3 unrelated patients of northern European descent. (findzebra.com)

Thus, at present, the functional significance of these CGIs for the correct regulation of developmentally regulated genes is poorly understood. (biomedcentral.com)

We now report that one of these genes encodes 3-methyladenine DNA glycosylase, an enzyme important in the repair of DNA after damage by alkylating agents. (ox.ac.uk)
Oddly enough, both in human being and in mouse gene can be X-linked, as gene encodes two primary splicing isoforms, the entire size ATRX (FL-ATRX) and a truncated isoform (ATRXt) [31]. (saussurea.org)

To examine the role of the 16pHQG;16 gene in delimiting the extent of the alpha-globin regulatory domain, we mapped its mouse orthologue, which we found to lie on mouse chromosome 17, separated from the mouse alpha-cluster on chromosome 11. (ox.ac.uk)

There is a G to A substitution in the distal CCAAT box of the A gamma-globin gene in Greek hereditary persistence of fetal haemohlobin. (wikiversity.org)

The distal promoters are located at −1.8 to −1.5 kb in the upstream region of the CYP11A gene and −1.5 to −1.1 kb in the upstream region of the CYP11B gene. (wikiversity.org)
CGIs were originally identified in promoters of housekeeping genes and associated with H3K4me3 independent of gene activity [ 1 ]. (biomedcentral.com)
However, it is now recognised that CGIs are also found in about half the promoters of developmentally regulated/tissue-specific genes [ 4 ]. (biomedcentral.com)

However, the main concern is the effectiveness of subunit vaccines and elicited antibodies to neutralize variants of SARS-CoV-2 such as B.1.1.7 (alpha), B.1.351 (beta) and P1 (gamma), B.1.617 ( Delta) and C.37 (Lambda). (convertex-chemie.de)

The newest beta-particularly department associated with gene superfamily keeps recurring of the multiple unequal crossing-over incidents and you will diverged for the four functional genes and two beta-such pseudogenes which can be all-present in one class on the mouse chromosome 7 as revealed during the Figure 5.six (Jahn mais aussi al. (euroflexcargo.eu)

The alpha thalassemia (α-thalassemia) syndromes are a group of hereditary anemias of varying clinical severity. (medscape.com)
8] Individuals with beta thalassemia syndromes have somewhat better protection against malaria than individuals with alpha thalassemia syndromes. (medscape.com)

In addition, not only was there convergence on the same genes, there was convergence on the same exon - both speckled teal ( A. flavirostris oxyptera ) and yellow-billed pintail ( Anas georgica ) had non-synonymous variation which occurred in the boundaries of exon12 of EPAS1 ( Graham and McCracken 2019 ) making a strong case for convergent evolution between these two species. (nature.com)
Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder that is defined by a cytosine, adenine, guanine (CAG) repeat expansion in exon 1 of the huntingtin gene leading to the production of mutant huntingtin (mHtt). (bmj.com)
These exon-junction complexes are important both for facilitating export from the nucleus and for remembering gene structure[ 31 ]. (berkeley.edu)

an upstream region between -2.0 knts to -1.5 knts for a gene that can exist in a supercoiled conformation with this region to be actively transcribed is called a distal promoter . (wikiversity.org)
In the presence of the enhancer, genes must exist in a supercoiled conformation to be actively transcribed, whereas relaxed or linear templates are inactive. (wikiversity.org)

This locus contains not only the beta globin gene but also delta, gamma-A, gamma-G, and epsilon globin. (wikipedia.org)
There are 4 major types of globins: alpha (α), beta (β), gamma (γ), and delta (δ). (medscape.com)
Alpha, beta, and delta crystallins occur in avian and reptilian lenses, while alpha, beta, and gamma crystallins occur in all other lenses. (lookformedical.com)

Differences between isoforms of an alternatively spliced gene may be subtle or profound. (berkeley.edu)

To these ends, several groups have classified and catagorized known alternative isoforms in terms of changes in gene structure between alternative isoforms or by the functional classes of the genes that are involved[ 4 , 16 ]. (berkeley.edu)

The "upstream regions of the human CYP11A and bovine CYP11B genes [have] a distal promoter in each gene. (wikiversity.org)
LUC7L) defining the centromeric boundary of the human alpha-globin domain. (ox.ac.uk)
We have identified the first gene lying on the centromeric side of the alpha-globin gene cluster on human 16p13.3. (ox.ac.uk)
To make the stratified picks, the human genome was divided into a top 20%, middle 30%, and bottom 50% stratum along two axes: gene density and non-exonic conservation. (ucsc.edu)
Alternative splicing has been shown to affect more than one-third of all human genes. (berkeley.edu)
Recent reports have shown that more than one third of all human genes may be affected by alternative splicing[ 4 - 9 ]. (berkeley.edu)
For example, the human Bcl-x gene can be processed to generate several isoforms with markedly different activities. (berkeley.edu)

A number sign (#) is used with this entry because X-linked alpha-thalassemia/mental retardation syndrome is caused by mutation in the ATRX gene (300032) on Xq21. (findzebra.com)
The X-linked mental retardation-hypotonic facies syndrome (309580) is also caused by mutation in the ATRX gene. (findzebra.com)

The distal promoter element ACACCC has a role regarding base substitution at position -88 in a beta-thalassemic globin gene. (wikiversity.org)
1, 2] Similarly, impaired production of beta globin gene products manifests with a more severe disease known as beta thalassemia. (medscape.com)
For instance the genes for insulin in pancreas, genes for beta and alpha globins in RBC and genes for digestive enzymes. (biologybard.com)
This was basic illustrated in the example of the new beta-globin gene members of the family having its four users created into the good 70 kb array (Contour 5.6). (euroflexcargo.eu)
No matter if beta-globin was utilized in the 1st transgenic tests presented from inside the 1980 and several subsequent studies, it had been never easy for researchers to achieve complete phrase out of the latest transgene at the same top once the endogenous gene. (euroflexcargo.eu)
Whenever transgene constructs are produced with the beta-globin LCR connected to the beta globin structural gene, complete endogenous levels of phrase is obtainable (Grosveld mais aussi al. (euroflexcargo.eu)

A promoter is a region of DNA that facilitates the transcription of a particular gene. (wikiversity.org)
Much to my excitement, I discovered there was significant variation associated with EPAS1 (HIF2 a ) and E GLN1 , both of which are critical regulators of response to hypoxia through the HIF-pathway - specifically EPAS1 is the alpha-dimer transcription factor, while EGLN1 represents a key part of HIF a repression machinery. (nature.com)
allows binding of transcription factors on outer DNA helix gene silencing (NO TRANSCRIPTION)! (freezingblue.com)

Single nucleotide polymorphisms (SNPs) in the Gγ-globin gene promoter in BCL11A regions and HBS1L-MYB intergenic polymorphism (HMIP) are thought to be associated with Hb F levels. (scirp.org)

Endogenous retroviral insertions - Ancient retroviruses inserted inactivated viral genes into genomes . (rationalwiki.org)

One of the subunits of alpha-crystallins. (lookformedical.com)

1981), with mental retardation and alpha-thalassemia without molecular abnormalities of the alpha-globin gene complex on chromosome 16p. (findzebra.com)
1991) suggested that this condition be called 'X-linked alpha-thalassemia/mental retardation' (ATR-X) to distinguish it from the deletion form. (findzebra.com)

Thalassemia is one of the world's most common single-gene disorders. (medscape.com)

Anatomy12

Organisms5

Diseases7

Chemicals and Drugs33

Analytical, Diagnostic and Therapeutic Techniques and Equipment8

Phenomena and Processes37

Information Science4

Health Care1

Mutations14

Hemoglobin15

Locus contro2

Deletions1

Sickle cell di3

Protein10

Proteins8

Developmental8

Expression22

Genetic2

Humans1

Differentiation3

Synthesis1

Erythroid4

Chromosome 164

Family genes3

Hemoglobins2

Haplotype1

Chains5

Exons2

Histone3

MRNA3

Chromosomes1

HOXA1

Telomere1

Thalassemias3

Regulation1

Encodes2

Regulatory1

Fetal1

Promoters3

Variants1

Superfamily1

Thalassemia syndromes2

Exon3

Actively transcribed2

Gamma3

Alternatively spliced1

Functional1

Human7

Mutation2

Beta6

Transcription3

BCL11A1

Endogenous1

Subunits1

Mental retardation2

Disorders1