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Haploinsufficiency Graph Only
Haploinsufficiency in genetics describes a model of dominant gene action in diploid organisms, in which a single copy of the wild-type allele at a locus in heterozygous combination with a variant allele is insufficient to produce the wild-type phenotype. Haploinsufficiency may arise from a ''de novo'' or inherited loss-of-function mutation in the variant allele, such that it yields little or no gene product (often a protein). Although the other, standard allele still produces the standard amount of product, the total product is insufficient to produce the standard phenotype. This heterozygous genotype may result in a non- or sub-standard, deleterious, and (or) disease phenotype. Haploinsufficiency is the standard explanation for dominant deleterious alleles. In the alternative case of haplosufficiency, the loss-of-function allele behaves as above, but the single standard allele in the heterozygous genotype produces sufficient gene product to produce the same, standard phenotype ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Dyskeratosis Congenita
Dyskeratosis congenita (DKC), also known as Zinsser-Engman-Cole syndrome, is a rare progressive congenital disorder with a highly variable phenotype. The entity was classically defined by the triad of abnormal skin pigmentation, nail dystrophy, and leukoplakia of the oral mucosa, and myelodysplastic syndrome (MDS) or acute myeloid leukemia (AML), but these components do not always occur. DKC is characterized by short telomeres. The disease initially can affect the skin, but a major consequence is progressive bone marrow failure which occurs in over 80%, causing early mortality. Presentation DKC can be characterized by cutaneous pigmentation, premature graying, dystrophy of the nails, leukoplakia of the oral mucosa, continuous lacrimation due to atresia of the lacrimal ducts, often thrombocytopenia, anemia, testicular atrophy in the male carriers, and predisposition to cancer. Also, liver abnormalities are associated with this syndrome, Nodular Regenerative Hypoplasia of the liv ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Neuron (journal)
''Neuron'' is a biweekly peer-reviewed scientific journal published by Cell Press, an imprint of Elsevier. Established in 1988, it covers neuroscience and related biological processes. The current editor-in-chief An editor-in-chief (EIC), also known as lead editor or chief editor, is a publication's editorial leader who has final responsibility for its operations and policies. The editor-in-chief heads all departments of the organization and is held accoun ... is Mariela Zirlinger. The founding editors were Lily Jan, A. James Hudspeth, Louis Reichardt, Roger Nicoll, and Zach Hall. A past editor-in-chief was Katja Brose. Transcript and video available. Click on "Transcript" for text. * See alsoA Career in Science Editing: Katja BroseEditor in Chief, Neuron References Neuroscience journals Cell Press academic journals Academic journals established in 1988 English-language journals Biweekly journals {{neuroscience-journal-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Aortic Stenosis
Aortic stenosis (AS or AoS) is the narrowing of the exit of the left ventricle of the heart (where the aorta begins), such that problems result. It may occur at the aortic valve as well as above and below this level. It typically gets worse over time. Symptoms often come on gradually with a decreased ability to exercise often occurring first. If heart failure, loss of consciousness, or heart related chest pain occur due to AS the outcomes are worse. Loss of consciousness typically occurs with standing or exercising. Signs of heart failure include shortness of breath especially when lying down, at night, or with exercise, and swelling of the legs. Thickening of the valve without causing obstruction is known as aortic sclerosis. Causes include being born with a bicuspid aortic valve, and rheumatic fever; a normal valve may also harden over the decades due to calcification. A bicuspid aortic valve affects about one to two percent of the population. As of 2014 rheumatic heart ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
ELN (gene)
Elastin is a protein encoded by the ''ELN'' gene in humans and several other animals. Elastin is a key component in the extracellular matrix of gnathostomes (jawed vertebrates). It is highly elastic and present in connective tissue of the body to resume its shape after stretching or contracting. Elastin helps skin return to its original position whence poked or pinched. Elastin is also in important load-bearing tissue of vertebrates and used in places where storage of mechanical energy is required. Function The ''ELN'' gene encodes a protein that is one of the two components of elastic fibers. The encoded protein is rich in hydrophobic amino acids such as glycine and proline, which form mobile hydrophobic regions bounded by crosslinks between lysine residues. Multiple transcript variants encoding different isoforms have been found for this gene. Elastin's soluble precursor is tropoelastin. Mechanism of elastic recoil The characterization of disorder is consistent with an e ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Non-allelic Homologous Recombination
Non-allelic homologous recombination (NAHR) is a form of homologous recombination that occurs between two lengths of DNA that have high sequence similarity, but are not alleles. It usually occurs between sequences of DNA that have been previously duplicated through evolution, and therefore have low copy repeats (LCRs). These repeat elements typically range from 10–300 kb in length and share 95-97% sequence identity. During meiosis, LCRs can misalign and subsequent crossing-over can result in genetic rearrangement. When non-allelic homologous recombination occurs between different LCRs, deletions or further duplications of the DNA can occur. This can give rise to rare genetic disorders, caused by the loss or increased copy number of genes within the deleted or duplicated region. It can also contribute to the copy number variation seen in some gene clusters. As LCRs are often found in "hotspots" in the human genome, some chromosomal regions are particularly prone to NAHR. Recu ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Copy Number Variation
Copy number variation (CNV) is a phenomenon in which sections of the genome are repeated and the number of repeats in the genome varies between individuals. Copy number variation is a type of structural variation: specifically, it is a type of duplication or deletion event that affects a considerable number of base pairs. Approximately two-thirds of the entire human genome may be composed of repeats and 4.8–9.5% of the human genome can be classified as copy number variations. In mammals, copy number variations play an important role in generating necessary variation in the population as well as disease phenotype. Copy number variations can be generally categorized into two main groups: short repeats and long repeats. However, there are no clear boundaries between the two groups and the classification depends on the nature of the loci of interest. Short repeats include mainly dinucleotide repeats (two repeating nucleotides e.g. A-C-A-C-A-C...) and trinucleotide repeats. Lon ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Expressivity (genetics)
In genetics, expressivity is the degree to which a phenotype is expressed by individuals having a particular genotype. Alternatively, it may refer to the expression of a particular gene by individuals having a certain phenotype. Expressivity is related to the ''intensity'' of a given phenotype; it differs from penetrance, which refers to the ''proportion'' of individuals with a particular genotype that share the same phenotype. Variable expressivity Variable expressivity refers to the phenomenon by which individuals with a shared genotype exhibit varying phenotypes. This can be further described as a spectrum of associated traits that can range in size, colour, intensity, and so forth. Variable expressivity can be seen in plants and animals, such as differences in hair colour, leaf size, and severity of diseases. Mechanisms influencing expressivity This variation in expression can be affected by modifier genes, epigenetic factors or the environment. # Modifier genes can a ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Retinitis Pigmentosa
Retinitis pigmentosa (RP) is a member of a group of genetic disorders called inherited retinal dystrophy (IRD) that cause loss of vision. Symptoms include trouble seeing at night and decreasing peripheral vision (side and upper or lower visual field). As peripheral vision worsens, people may experience " tunnel vision". Complete blindness is uncommon. Onset of symptoms is generally gradual and often begins in childhood. Retinitis pigmentosa is generally inherited from one or both parents. It is caused by genetic variants in nearly 100 genes. The underlying mechanism involves the progressive loss of rod photoreceptor cells that line the retina of the eyeball. The rod cells secrete a neuroprotective substance (rod-derived cone viability factor, RdCVF) that protects the cone cells from apoptosis. When these rod cells die, this substance is no longer provided. This is generally followed by the loss of cone photoreceptor cells. Diagnosis is through eye examination of the retina ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Autosomal Dominant
In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the Phenotype, effect of a different variant of the same gene on Homologous chromosome, the other copy of the chromosome. The first variant is termed dominant and the second is called recessive. This state of having Heterozygosity, two different variants of the same gene on each chromosome is originally caused by a mutation in one of the genes, either new (''de novo'') or Heredity, inherited. The terms autosomal dominant or autosomal recessive are used to describe gene variants on non-sex chromosomes (autosomes) and their associated traits, while those on sex chromosomes (allosomes) are termed X-linked dominant, X-linked recessive or Y-linked; these have an inheritance and presentation pattern that depends on the sex of both the parent and the child (see Sex linkage). Since there is only one Y chromosome, Y-linked traits cannot be dominant or recessive. Additionally, ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
PRPF31
PRP31 pre-mRNA processing factor 31 homolog (S. cerevisiae), also known as PRPF31, is a protein which in humans is encoded by the ''PRPF31'' gene. Function PRPF31 is the gene coding for the splicing factor hPRP31. It is essential for the formation of the spliceosome hPRP31 is associated with the U4/ U6 di-snRNP and interacts with another splicing factor, h PRP6, to form the U4/U6- U5 tri-snRNP. It has been shown that when hPRP31 is knocked down by RNAi, U4/U6 di-snRNPs accumulate in the Cajal bodies and the U4/U6-U5 tri-snRNP cannot form. PRPF31 is recruited to introns following the attachment of U4 and U6 RNAs and the 15.5K protein NHP2L1. The addition of PRPF31 is crucial for the transition of the spliceosomal complex to the activated state. Clinical significance A mutation in PRPF31 is one of 4 known mutations in splicing factors which are known to cause retinitis pigmentosa. The first mutation in PRPF31 was discovered by Vithana et al. in 2001. Retinitis pigmentosa ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Genetics (journal)
''Genetics'' is a monthly scientific journal publishing investigations bearing on heredity, genetics, biochemistry and molecular biology Molecular biology is a branch of biology that seeks to understand the molecule, molecular basis of biological activity in and between Cell (biology), cells, including biomolecule, biomolecular synthesis, modification, mechanisms, and interactio .... Genetics is published by the Genetics Society of America. It has a delayed open access policy, and makes articles available online without a subscription after 12 months have elapsed since first publication. Since 2010, it is published online-only. George Harrison Shull was the founding editor of ''Genetics'' in 1916. Editors-in-Chief References Genetics journals Delayed open access journals English-language journals Academic journals established in 1916 Online-only journals {{genetics-journal-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
