Mutations in crystallin genes. Medical search. Frequent questions

Since lens central fiber cells lose their nuclei during development, these crystallins are made and then retained throughout life, making them extremely stable proteins. (wikipedia.org)
Gamma-crystallins are a homogeneous group of highly symmetrical, monomeric proteins typically lacking connecting peptides and terminal extensions. (wikipedia.org)
Crystallins constitute about 90% of the water-soluble proteins of the lens and are divided into two major classes, the α-crystallin family and the β/γ-crystallin superfamily. (molvis.org)
The α-crystallins are heat shock proteins that function as molecular chaperones. (molvis.org)
Of special interest is the proposed cooption of crystallin proteins, which give the lens its refractive properties. (evolutionnews.org)
The protein encoded by this gene belongs to the superfamily of small heat-shock proteins containing a conservative alpha-crystallin domain at the C-terminal part of the molecule. (caslab.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)
To date, we have identified several proteins that change in FSHD muscle, and characterized one: µ-crystallin. (blochlab.com)
The multifunctional regulator nuclear factor erythroid 2-related factor (Nrf2) is considered not only as a cytoprotective factor regulating the expression of genes coding for anti-oxidant, anti-inflammatory and detoxifying proteins, but it is also a powerful modulator of species longevity. (springer.com)
The major characteristics of Nrf2 are to some extent mimicked by Nrf2-dependent genes and their proteins including heme oxygenase-1 (HO-1), which besides removing toxic heme, produces biliverdin, iron ions and carbon monoxide. (springer.com)
Most inherited congenital cataracts are accounted for by mutation in genes encoding abundant cytoplasmic or membrane proteins of lens fiber cells. (wustl.edu)
In both groups, serum antibodies display a consistent and prominent reaction to αB-crystallin (CRYAB) versus other myelin proteins. (tno.nl)

BACKGROUND AND PURPOSE: Mutations in the alpha-B-crystallin (CRYAB) gene have initially been associated with myofibrillar myopathy, dilated cardiomyopathy and cataracts. (bvsalud.org)

Gamma-crystallins are similar in structure to BETA-CRYSTALLINS in that they both form into a Greek key-like structure. (umassmed.edu)
The basic subunit of beta-crystallins. (lookformedical.com)
Beta-crystallins exist as oligomers formed from acidic (BETA-CRYSTALLIN A CHAIN) and basic (BETA-CRYSTALLIN B CHAIN) subunits. (lookformedical.com)
Beta-crystallins, the most heterogeneous, differ by the presence of the C-terminal extension (present in the basic group, none in the acidic group). (oftalmic.ru)
Beta-crystallins form aggregates of different sizes and are able to self-associate to form dimers or to form heterodimers with other beta-crystallins. (oftalmic.ru)

Of the 13 patients with pathogenic gene mutations, five (38.5%) were affected by mutations in lens crystallin genes, three (23%) were affected by mutations in connexin genes, three (23%) were affected by mutations in transcription factor genes, one (7.7%) was affected by a mutation in a transmembrane transporter gene, and one (7.7%) was affected by a mutation in a chromatin-modifying protein gene. (molvis.org)
A subclass of crystallins that found in the lens (LENS, CRYSTALLINE) of VERTEBRATES. (umassmed.edu)
No potential precursor to a vertebrate with a lens would have had an effective population large enough to acquire the needed mutations. (evolutionnews.org)
Then, additional mutations would have to have occurred, which adjusted the regulation to ensure the crystalline was produced in the lens fiber cells at precisely the right time in sufficient quantities to fill the entire cells. (evolutionnews.org)
Researchers have identified numerous TFs essential to lens development in vertebrates, and each has its own set of TFBS, which integrate into a complex developmental regulatory gene network . (evolutionnews.org)
This seems to be a clinically heterogeneous group of lens opacities all due to mutations in the crystallin gene CRYAA . (arizona.edu)
Expression of the murine alpha B-crystallin gene is not restricted to the lens. (research.com)
His Cell biology research incorporates elements of Heat shock protein, Alpha-Crystallin A Chain, Apoptosis, Lens and Genetically modified mouse. (research.com)
A class of crystallins that provides refractive power and translucency to the lens (LENS, CRYSTALLINE) in VERTEBRATES. (lookformedical.com)
Identification of these genes is providing insight into the processes required for normal lens development and suggesting candidates for genes that may contribute to inherited cataracts later in life. (wustl.edu)

beta and gamma crystallins are also considered as a superfamily. (wikipedia.org)
Examination of crystallin genes not yet linked to human disease identified a novel cataract gene, CRYBA2, a member of the βγ-crystallin superfamily. (nih.gov)

A missense mutation in the alphaB-crystallin chaperone gene causes a desmin-related myopathy. (research.com)

However, the genotype-to-phenotype correlation is variable on the gene level and more accurate when described by a specific mutation. (medscape.com)
Phenotype can vary greatly even in a single gene or pathologic classification. (medscape.com)
Since the specific cataract phenotype is not sufficient to predict which gene is mutated, whole exome sequencing (WES) was utilized to concurrently screen all known cataract genes and to examine novel candidate factors for a disease-causing mutation in probands from 23 pedigrees affected with familial dominant cataract. (nih.gov)
Val50Met) mutation in CRYBA2 cosegregated with disease phenotype in a four-generation pedigree with autosomal dominant congenital cataracts with incomplete penetrance. (nih.gov)
His study in Molecular biology is interdisciplinary in nature, drawing from both Phenotype, Gene, Transgene, Mutation and Retina. (research.com)
The identification of novel genes and of rare, highly penetrant pathogenic variants is helping to enhance our understanding of genotype-phenotype correlations. (mdpi.com)
Recognition of a single-gene disorder as causal for a patient's 'multiple sclerosis-like' phenotype is critically important for accurate direction of patient management, and evokes broader genetic counselling implications for affected families. (medscape.com)

The 12 gene mutations included one nonsense, one splice site, seven missense, and three insert and deletion (INDELs) mutations. (molvis.org)
A large number of NDD genes have been identified in cases where varying phenotypes depend on the type of inheritance (for example, dominant or recessive), the nature (for example missense or truncating) or location of the mutation. (mdpi.com)

In addition, although a number of genetic causes of autosomal dominant pulverulent cataracts have been identified (including CRYBB1 ) this is the first gene to have been implicated in autosomal recessive nuclear pulverulent cataract. (molvis.org)
the CRYBB3 mutation represents the first dominant allele in this gene and demonstrates incomplete penetrance. (nih.gov)
Our data highlight the extreme genetic heterogeneity of dominant cataract as the eleven causative/likely causative mutations affected nine different genes, and the majority of mutant alleles were novel. (nih.gov)
Furthermore, these data suggest that less than half of dominant cataract can be explained by mutations in currently known genes. (nih.gov)
Su D, Guo Y, Li Q, Guan L, Zhu S, Ma X. A novel mutation in CRYAA is associated with autosomal dominant suture cataracts in a Chinese family . (arizona.edu)
Autosomal dominant zonular cataract with sutural opacities is associated with a splice mutation in the betaA3/A1-crystallin gene. (fred.net)
among these there are many new dominant mutations, so that a high level of diagnostic suspicion needs to be maintained, even without a clear family history. (bmj.com)
While most dominant NDD genes are highly intolerant to variation, some exceptions are connected to the presence of variants in transcripts that are not brain expressed and/or genes that demonstrate acquired somatic mosaicism in blood. (mdpi.com)
Mutations in the J domain of DNAJB6 cause dominant distal myopathy. (wustl.edu)

Previous studies regarding gene mutations in congenital cataracts have used Sanger sequencing in known disease-causing genes. (molvis.org)

A variety of mutations in the CRYAA (21q22.3) have been reported in a several ethnic groups. (arizona.edu)

Information analysis of human splice site mutations. (fred.net)

Recent findings The most important recent advance in the myofibrillar myopathies has been the discovery that mutations in Z band alternatively spliced PDZ-containing protein and filamin C, as well as in desmin, αB-crystallin and myotilin, result in similar pathologic alterations in skeletal muscle that are typical of myofibrillar myopathy. (elsevierpure.com)
Summary Several disease genes have recently been recognized in myofibrillar myopathies. (elsevierpure.com)

His Molecular biology study combines topics from a wide range of disciplines, such as In vitro, Transgene, Cataracts, Mutant and Regulation of gene expression. (research.com)
Thus, this gene appears to be involved in regulation of cell proliferation, apoptosis, and carcinogenesis, and mutations in this gene have been associated with different neuromuscular diseases, including Charcot-Marie-Tooth disease. (caslab.com)
encoded by Nfe2l2 gene) is a transcription factor responsible for the regulation of cellular redox balance and protective antioxidant and phase II detoxification responses in mammals [ 1 , 2 ]. (springer.com)
DNA methylation and histone modifications play a central role in the epigenetic regulation of gene expression and cell differentiation. (cipsm.de)

Additionally confounding is that, more recently, genes known to cause congenital myopathy have now also been described to cause a dystrophic process such as seen in congenital muscular dystrophies. (medscape.com)
Occasionally, these result in phenotypic overlap between genes as well as genes causing congenital myopathy to occasionally have phenotypes more consistent with congenital muscular dystrophies, limb-girdle muscular dystrophies, or even possible neuropathic or neuromuscular junction diseases. (medscape.com)
Client processing is altered by novel myopathy-causing mutations in the HSP40 J domain. (wustl.edu)

To our knowledge this is the first case of an initiation codon mutation in a human crystallin gene, and only the second report of a CRYBB1 mutation associated with autosomal recessive congenital cataracts. (molvis.org)
To identify disease-causing gene mutations in 21 northern Chinese families with congenital cataracts. (molvis.org)
Thirty-four known candidate genes for congenital cataracts were analyzed in the probands of 21 families with targeted next-generation sequencing (NGS). (molvis.org)
Compared with traditional Sanger sequencing, targeted NGS for genetic testing of congenital cataracts markedly increases the mutation detection rate and is cost-effective. (molvis.org)
The results of this study expand the gene mutation spectrum of congenital cataracts. (molvis.org)
To date, 34 genes have been identified and linked to congenital cataracts ( Cat-Map ). (molvis.org)
The remaining inherited congenital cataracts are due to mutations in a large and growing number of genes. (wustl.edu)

Inherited cataracts demonstrate extreme genetic heterogeneity, with more than 20 genes identified to date. (molvis.org)
In order to further delineate the molecular pathology of autosomal recessive cataracts, we investigated a consanguineous family with nuclear pulverulent cataracts and identified a novel germline CRYBB1 mutation. (molvis.org)

Seven protein regions exist in crystallins: four homologous motifs, a connecting peptide, and N- and C-terminal extensions. (wikipedia.org)
The β- and γ-crystallins share a common structural feature consisted of four "Greek key" motifs. (molvis.org)

Crystallin, gamma C, also known as CRYGC, is a protein which in humans is encoded by the CRYGC gene. (wikipedia.org)
The Parkinson's disease genes pink1 and parkin , which encode a mitochondrially targeted protein kinase, and an E3 ubiquitin ligase, respectively, participate in a key mitochondrial quality-control pathway that eliminates damaged mitochondria. (sdbonline.org)
The scientist's investigation covers issues in Molecular biology, Cell biology, Crystallin, Heat shock protein and Alpha-Crystallin A Chain. (research.com)
The expression of this gene in induced by estrogen in estrogen receptor-positive breast cancer cells, and this protein also functions as a chaperone in association with Bag3, a stimulator of macroautophagy. (caslab.com)
We discovered significant reductions of Hsp70 in cells formulated with deletions in three genes and (Fig. 2 are believed to encode mitochondrial protein (22). (buyresearchchemicalss.net)
µ-Crystallin is a thyroid-hormone binding protein present in the cytoplasm of many mammalian that regulates gene expression by controlling the amount of free thyroid hormone via the thyroid hormone receptor. (blochlab.com)

Entrez Gene: CRYGC crystallin, gamma C". Fu L, Liang JJ (February 2002). (wikipedia.org)
Human CRYGC genome location and CRYGC gene details page in the UCSC Genome Browser. (wikipedia.org)

More than 100 years ago, Nobel-prize winning geneticist Thomas Hunt Morgan and his colleagues discovered that some fruit flies inherited genetic mutations that caused their body color to change. (elifesciences.org)
Since then it has remained a mystery how the genetic mutations that cause yellow coloration in fruit flies lead to unsuccessful mating attempts. (elifesciences.org)
used a series of genetic experiments and high speed-videos to assess how mutations in male yellow fruit flies affected their mating behavior. (elifesciences.org)
Using information content and base frequencies to distinguish mutations from genetic polymorphisms in splice junction recognition sites. (fred.net)
Uses for the reaction include disease diagnosis, detection of difficult-to-isolate pathogens, mutation analysis, genetic testing, DNA sequencing, and analyzing evolutionary relationships. (lookformedical.com)
Harenza JL, Muldoon PP, De Biasi M, Damaj MI, Miles MF (2014) Genetic variation within the Chrna7 gene modulates nicotine reward-like phenotypes in mice. (genenetwork.org)

Four gamma-crystallin genes (gamma-A through gamma-D) and three pseudogenes (gamma-E, gamma-F, gamma-G) are organized in a genomic segment as a gene cluster. (wikipedia.org)
Whether due to aging or mutations in specific genes, gamma-crystallins have been involved in cataract formation. (wikipedia.org)
Human gamma-crystallin genes. (wikipedia.org)
gamma-Crystallins" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (umassmed.edu)
This graph shows the total number of publications written about "gamma-Crystallins" by people in this website by year, and whether "gamma-Crystallins" was a major or minor topic of these publications. (umassmed.edu)
Below are the most recent publications written about "gamma-Crystallins" by people in Profiles. (umassmed.edu)
Conversion and compensatory evolution of the gamma-crystallin genes and identification of a cataractogenic mutation that reverses the sequence of the human CRYGD gene to an ancestral state. (umassmed.edu)
Alpha, beta, and delta crystallins occur in avian and reptilian lenses, while alpha, beta, and gamma crystallins occur in all other lenses. (lookformedical.com)

In cases of known genes with cardiac involvement, cardiac care based on subtype should be followed. (medscape.com)

The main hurdle would simply be altering the regulatory regions of the first borrowed crystallin gene and other related genes, so they bind to the correct set of transcription factors (TFs). (evolutionnews.org)
This alteration would involve numerous mutations creating over four corresponding DNA binding sites known as transcription factor binding sites (TFBS). (evolutionnews.org)
Nrf2 activates transcription of antioxidant enzymes by binding to the antioxidant response element (ARE) in the promoter regions of its target genes [ 23 , 24 ]. (hindawi.com)
Upon exposure to ROS, Keap1 undergoes a conformational change that allows Nrf2 to translocate to the nucleus, bind to the ARE region, and initiate transcription of target genes [ 24 ]. (hindawi.com)
Oxidized Keap1 dissociates from Nrf2, allowing Nrf2 to translocate to the nucleus, bind to the ARE region, and initiate transcription of target genes. (hindawi.com)
Work in progress suggests that μ-crystallin alters the transcription of muscle-specific thyroid hormone-dependent genes and shifts metabolism such that muscle utilizes more fat as an energy source. (blochlab.com)
Nrf2 stabilization and increase in its half-life even to 200 min [ 9 ] allows nuclear translocation and activation of transcription of cytoprotective genes (Fig. 1 ). (springer.com)
Background: The transcription factor B-Myb is present in all proliferating cells, and in mice engineered to remove this gene, embryos die in utero just after implantation due to inner cell mass defects. (harvard.edu)

In mammalian cells the sHsp family members contains the α-crystallins whose orthologue in is certainly Hsp26. (buyresearchchemicalss.net)

His Crystallin research is multidisciplinary, relying on both Cytoplasmic inclusion, Glutathione and Molecular mass. (research.com)
Deletion from the gene which encodes a cytoplasmic isoform of Hsp70 eliminates the power of ethanol to revive function indicating that Hsp70 has a positive function in correct I278T folding. (buyresearchchemicalss.net)

Haplotype analysis revealed a chromosome region of 475 kb containing the mutation in the GJA8 gene was harbored by two families. (molvis.org)

His research integrates issues of Wild type, Mutant, Gene, Chitin synthase and Galactomannan in his study of Microbiology. (research.com)
His Alpha-Crystallin A Chain research integrates issues from Cell culture, Transfection, Gene expression, Nucleus and Wild type. (research.com)

Additionally, each gene may have other tissue expression, which can result in non-muscle symptoms. (medscape.com)
Probing the Changes in Gene Expression Due to Α-Crystallin Mutations in Mouse Models of Hereditary Human Cataract. (wustl.edu)
Attributed to the failure of neurons to clear dysfunctional mitochondria , loss of gene expression leads to loss of nigrostriatal neurons. (sdbonline.org)
In addition, an excess of oxidative free radicals also increases the expression of proinflammatory genes and activates the inflammation process [ 18 , 19 ]. (hindawi.com)
High levels of µ-crystallin expression also block muscle development in culture (figure). (blochlab.com)
Cell cycle gene expression networks discovered using systems biology: Significance in carcinogenesis. (genenetwork.org)

Survival Outcomes in Patients With RAS Wild Type Metastatic Colorectal Cancer Classified According to Köhne Prognostic Category and BRAF Mutation Status. (cdc.gov)

Mutations in parkin (PARK2) and Pink1 (PARK6) are responsible for autosomal recessive forms of early onset Parkinson's disease (PD). (sdbonline.org)
Mutations in this gene result in cataract congenital nuclear autosomal recessive type 2. (oftalmic.ru)

This gene, a beta basic group member, is part of a gene cluster with beta-A4, beta-B1, and beta-B2. (oftalmic.ru)

Human Mutation , 6:74-76, 1995. (fred.net)
Human Mutation , 12:153-171, 1998. (fred.net)
Our studies of LGMD2B/MMD1 are primarily carried out in mice that carry similar mutations to those that cause the human disease. (blochlab.com)
Here, we propose to use a transgenic animal model system, Drosophila melanogaster (the fruit fly), to define the mechanisms by which mutations in various thin filament components lead to human cardiac disease. (hopkinsmedicine.org)
Orthologous to human CRYZL1 (crystallin zeta like 1). (zfin.org)
Joint mouse-human phenome-wide association to test gene function and disease risk. (genenetwork.org)
Bestrophin-1 (BEST-1) and bestrophin-2 are highly expressed in human RETINAL PIGMENT EPITHELIUM cells and mutations in the BEST-1 gene are associated with VITELLIFORM MACULAR DYSTROPHY, TYPE 2. (bvsalud.org)

Nautilus shows a compact, minimalist genome with few encoding genes and slow evolutionary rates in both non-coding and coding regions among known cephalopods. (nature.com)

Subsequently good candidate genes were screened for mutations by direct sequencing. (molvis.org)
However, this approach is becoming increasingly infeasible as the list of candidate genes to be tested grows. (molvis.org)
Primary ciliary dyskinesia: genes, candidate genes and chromosomal regions. (hanifa.ir)
Quantitative Trait Loci and Candidate Genes for Neutrophil Recruitment in Sterile Inflammation Mapped in AXB-BXA Recombinant Inbred Mice. (genenetwork.org)

This extremely conservative estimate indicates that over 10 mutations would be required to generate a proper sequence. (evolutionnews.org)
The discovery of the antioxidant response element (ARE) have led to the conclusion that the battery of genes, including glutamate-cysteine ligase (GCL), thioredoxin reductase 1 (Txnrd1), NAD(P)H-quinone oxidoreductase 1 (NQO1) and heme oxygenase-1 (HMOX1) is regulated through Nrf2 binding to this consensus binding sequence [ 3 ]. (springer.com)

Several single gene disorders share clinical and radiologic characteristics with multiple sclerosis and have the potential to be overlooked in the differential diagnostic evaluation of both adult and paediatric patients with multiple sclerosis. (medscape.com)
Here we review single gene disorders that have the potential to mimic multiple sclerosis, provide an overview of clinical and investigational characteristics of each disorder, and present guidelines for when clinicians should suspect an underlying heritable disorder that requires diagnostic confirmation in a patient with a definite or probable diagnosis of multiple sclerosis. (medscape.com)

The yellow flies had a mutation in one specific gene and these mutants did not only look different from normal flies, they behaved differently too. (elifesciences.org)

Genotyping and haplotype analyses were performed in two patients with a p.V44M mutation in the GJA8 gene. (molvis.org)
The p.V44M mutation in the GJA8 gene was the most common mutation and was due to a founder effect within the Chinese cohort studied. (molvis.org)

Importantly, multiple genomic innovations including gene losses, independent contraction and expansion of specific gene families and their associated regulatory networks likely moulded the evolution of the nautilus pinhole eye. (nature.com)

His studies deal with areas such as Mutant, Gene, Virulence, Antigen and Shigella flexneri as well as Microbiology. (research.com)
His Cell biology research is multidisciplinary, incorporating elements of CD28, Genetically modified mouse, Retinal and Cathepsin D. His Crystallin study combines topics in areas such as Mutant and Notch signaling pathway. (research.com)
CBS is an integral enzyme in the via either relationship of mutant CBS with a little molecule (medication) or a mutation in another fungus gene. (buyresearchchemicalss.net)

Identifying and manipulating age- and mutation-dependent modifiers of cardiac function using the Drosophila model. (hopkinsmedicine.org)
2) Employ RNA interference to knockdown specific cardiac transcripts to determine their role in myopathic responses to the myosin mutations. (hopkinsmedicine.org)

La bestrofina-1 (BEST-1) y bestrofina-2 se expresan ampliamente en las células del EPITELIO PIGMENTADO DE LA RETINA y las mutaciones del gen BEST-1 se asocian a DISTROFIA MACULAR VITELIFORME TIPO 2. (bvsalud.org)

Two novel mutations of PEX6 in one Chinese Zellweger spectrum disorder and their clinical characteristics. (hanifa.ir)

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

Anatomy12

Organisms17

Diseases10

Chemicals and Drugs76

Analytical, Diagnostic and Therapeutic Techniques and Equipment41

Phenomena and Processes102

Disciplines and Occupations1

Information Science4

Named Groups2

Health Care6

Proteins13

CRYAB1

BETA-CRYSTALLINS5

Lens10

Superfamily2

AlphaB-crystallin1

Phenotype7

Missense2

Dominant9

Disease-causi1

CRYAA1

Splice site1

Myofibrillar2

Regulation4

Myopathy3

Congenital cataracts7

Cataracts2

Motifs2

Protein6

CRYGC2

Genetic6

Gamma8

Known genes1

Transcription8

Mammalian1

Cytoplasmic2

Chromosome1

Research integrates issues2

Expression6

Colorectal cancer1

Autosomal2

Cluster1

Human7

Evolutionary1

Candidate4

Sequence2

Single gene2

Mutants1

GJA82

Genomic1

Mutant3

Cardiac2

Retina1

Spectrum1

Alpha1