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CRX (gene)
Cone-rod homeobox protein is a protein that in humans is encoded by the ''CRX'' gene. Function The protein encoded by this gene is a photoreceptor-specific transcription factor which plays a role in the differentiation of photoreceptor cells. This homeodomain protein is necessary for the maintenance of normal cone and rod function. Mutations in this gene are associated with photoreceptor degeneration, Leber's congenital amaurosis type III and the autosomal dominant cone-rod dystrophy 2. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some variants has not been determined. Mammalian CRX encodes a 299 amino acid protein containing a DNA binding homeodomain (HD) near its N-terminus followed by glutamine rich (Gln), and basic amino acid regions, then a C-terminal transactivation domain (AD). While structural biochemistry has demonstrated that the CRX HD adopts a canonical homeodomain protein fold, the AD is pred ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residue (biochemistry), residues. Proteins perform a vast array of functions within organisms, including Enzyme catalysis, catalysing metabolic reactions, DNA replication, Cell signaling, responding to stimuli, providing Cytoskeleton, structure to cells and Fibrous protein, organisms, and Intracellular transport, transporting molecules from one location to another. Proteins differ from one another primarily in their sequence of amino acids, which is dictated by the Nucleic acid sequence, nucleotide sequence of their genes, and which usually results in protein folding into a specific Protein structure, 3D structure that determines its activity. A linear chain of amino acid residues is called a polypeptide. A protein contains at least one long polypeptide. Short polypeptides, containing less than 20–30 residues, are rarely considered to be proteins and are commonly called pep ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Gene
In biology, the word gene has two meanings. The Mendelian gene is a basic unit of heredity. The molecular gene is a sequence of nucleotides in DNA that is transcribed to produce a functional RNA. There are two types of molecular genes: protein-coding genes and non-coding genes. During gene expression (the synthesis of Gene product, RNA or protein from a gene), DNA is first transcription (biology), copied into RNA. RNA can be non-coding RNA, directly functional or be the intermediate protein biosynthesis, template for the synthesis of a protein. The transmission of genes to an organism's offspring, is the basis of the inheritance of phenotypic traits from one generation to the next. These genes make up different DNA sequences, together called a genotype, that is specific to every given individual, within the gene pool of the population (biology), population of a given species. The genotype, along with environmental and developmental factors, ultimately determines the phenotype ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Mutation
In biology, a mutation is an alteration in the nucleic acid sequence of the genome of an organism, virus, or extrachromosomal DNA. Viral genomes contain either DNA or RNA. Mutations result from errors during DNA or viral replication, mitosis, or meiosis or other types of damage to DNA (such as pyrimidine dimers caused by exposure to ultraviolet radiation), which then may undergo error-prone repair (especially microhomology-mediated end joining), cause an error during other forms of repair, or cause an error during replication ( translesion synthesis). Mutations may also result from substitution, insertion or deletion of segments of DNA due to mobile genetic elements. Mutations may or may not produce detectable changes in the observable characteristics ( phenotype) of an organism. Mutations play a part in both normal and abnormal biological processes including: evolution, cancer, and the development of the immune system, including junctional diversity. Mutati ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Leber's Congenital Amaurosis
Leber congenital amaurosis (LCA) is a rare inherited eye disease that appears at birth or in the first few months of life. It affects about 1 in 40,000 newborns. LCA was first described by Theodor Leber in the 19th century. It should not be confused with Leber's hereditary optic neuropathy, which is a different disease also described by Theodor Leber. One form of LCA was successfully treated with gene therapy in 2008. Signs and symptoms LCA symptoms typically begin in the first few months of life, most commonly with involuntary twitching of the eye (nystagmus). Affected infants may show misaligned eyes when looking at something (strabismus), aversion to light (photophobia), and poke or rub at their eyes (Franceschetti’s oculodigital sign). Those with LCA invariably experience vision problems. Affected infants show decreased visual response to objects. Loss of visual acuity is severe, with affected individuals' vision ranging from 20/200 to 20/400. Around a third of thos ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cone Dystrophy
A cone dystrophy is an inherited ocular disorder characterized by the loss of cone cells, the photoreceptors responsible for both central and color vision. Presentation The most common symptoms of cone dystrophy are vision loss (age of onset ranging from the late teens to the sixties), sensitivity to bright lights, and poor color vision. Therefore, patients see better at dusk. Visual acuity usually deteriorates gradually, but it can deteriorate rapidly to 20/200; later, in more severe cases, it drops to "counting fingers" vision. Color vision testing using color test plates (HRR series) reveals many errors on both red-green and blue-yellow plates. Dystrophy of the rods and cones Dystrophy of the light-sensing cells of the eye may also occur in the rods as well, or in both the cones and the rods. A type of rod-cone dystrophy—where rod function decline is typically earlier or more pronounced than cone dystrophy—has been identified as a relatively common characteris ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Homeobox
A homeobox is a Nucleic acid sequence, DNA sequence, around 180 base pairs long, that regulates large-scale anatomical features in the early stages of embryonic development. Mutations in a homeobox may change large-scale anatomical features of the full-grown organism. Homeoboxes are found within genes that are involved in the regulation of patterns of anatomical development (morphogenesis) in animals, fungus, fungi, plants, and numerous single cell eukaryotes. Homeobox genes encode homeodomain protein products that are transcription factors sharing a characteristic protein fold structure that binds DNA to regulate expression of target genes. Homeodomain proteins regulate gene expression and cell differentiation during early embryonic development, thus mutations in homeobox genes can cause developmental disorders. Homeosis is a term coined by William Bateson to describe the outright replacement of a discrete body part with another body part, e.g. antennapedia—replacement of t ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Transactivation Domain
The transactivation domain or trans-activating domain (TAD) is a transcription factor scaffold domain which contains binding sites for other proteins such as transcription coregulators. These binding sites are frequently referred to as activation functions (AFs). TADs are named after their amino acid composition. These amino acids are either essential for the activity or simply the most abundant in the TAD. Transactivation by the Gal4 transcription factor is mediated by acidic amino acids, whereas hydrophobic residues in Gcn4 play a similar role. Hence, the TADs in Gal4 and Gcn4 are referred to as acidic or hydrophobic, respectively. In general we can distinguish four classes of TADs: * acidic domains (called also “acid blobs” or “negative noodles", rich in D and E amino acids, present in Gal4, Gcn4 and VP16). * glutamine-rich domains (contains multiple repetitions like "QQQXXXQQQ", present in SP1) * proline-rich domains (contains repetitions like "PPPXXXPPP" present i ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
OTX1
Homeobox protein OTX1 is a protein that in humans is encoded by the ''OTX1'' gene In biology, the word gene has two meanings. The Mendelian gene is a basic unit of heredity. The molecular gene is a sequence of nucleotides in DNA that is transcribed to produce a functional RNA. There are two types of molecular genes: protei .... Function This gene encodes a member of the bicoid sub-family of homeodomain-containing transcription factors. The encoded protein acts as a transcription factor and may play a role in brain and sensory organ development. The Otx gene is active in the region of the first gill arch, which is related to the upper and lower jaw and two of the bones of the ear.Shubin, Neil "Your Inner Fish" 2009 A similar protein in mice is required for proper brain and sensory organ development and can cause epilepsy. References Further reading * * * * * * * External links * Transcription factors {{gene-2-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Vertebrate
Vertebrates () are animals with a vertebral column (backbone or spine), and a cranium, or skull. The vertebral column surrounds and protects the spinal cord, while the cranium protects the brain. The vertebrates make up the subphylum Vertebrata with some 65,000 species, by far the largest ranked grouping in the phylum Chordata. The vertebrates include mammals, birds, amphibians, and various classes of fish and reptiles. The fish include the jawless Agnatha, and the jawed Gnathostomata. The jawed fish include both the Chondrichthyes, cartilaginous fish and the Osteichthyes, bony fish. Bony fish include the Sarcopterygii, lobe-finned fish, which gave rise to the tetrapods, the animals with four limbs. Despite their success, vertebrates still only make up less than five percent of all described animal species. The first vertebrates appeared in the Cambrian explosion some 518 million years ago. Jawed vertebrates evolved in the Ordovician, followed by bony fishes in the Devonian. T ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Eutheria
Eutheria (from Greek , 'good, right' and , 'beast'; ), also called Pan-Placentalia, is the clade consisting of Placentalia, placental mammals and all therian mammals that are more closely related to placentals than to marsupials. Eutherians are distinguished from non-eutherians by various phenotypic traits of the feet, ankles, jaws and teeth. All extant eutherians lack epipubic bones, which are present in all other living mammals (marsupials and monotremes). This allows for expansion of the abdomen during pregnancy, though epipubic bones are present in many primitive eutherians. Eutheria was named in 1872 by Theodore Gill; in 1880, Thomas Henry Huxley defined it to encompass a more broadly defined group than Placentalia. The earliest unambiguous eutherians are known from the Early Cretaceous Yixian Formation of China, dating around 120 million years ago. Two tribosphenic mammals, ''Durlstodon'' and ''Durlstotherium'' from the Berriasian age (~145–140 million years ago) of t ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Mammal
A mammal () is a vertebrate animal of the Class (biology), class Mammalia (). Mammals are characterised by the presence of milk-producing mammary glands for feeding their young, a broad neocortex region of the brain, fur or hair, and three Evolution of mammalian auditory ossicles, middle ear bones. These characteristics distinguish them from reptiles and birds, from which their ancestors Genetic divergence, diverged in the Carboniferous Period over 300 million years ago. Around 6,640 Neontology#Extant taxon, extant species of mammals have been described and divided into 27 Order (biology), orders. The study of mammals is called mammalogy. The largest orders of mammals, by number of species, are the rodents, bats, and eulipotyphlans (including hedgehogs, Mole (animal), moles and shrews). The next three are the primates (including humans, monkeys and lemurs), the Artiodactyl, even-toed ungulates (including pigs, camels, and whales), and the Carnivora (including Felidae, ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Gene Duplication
Gene duplication (or chromosomal duplication or gene amplification) is a major mechanism through which new genetic material is generated during molecular evolution. It can be defined as any duplication of a region of DNA that contains a gene. Gene duplications can arise as products of several types of errors in DNA replication and repair machinery as well as through fortuitous capture by selfish genetic elements. Common sources of gene duplications include ectopic recombination, retrotransposition event, aneuploidy, polyploidy, and replication slippage. Mechanisms of duplication Ectopic recombination Duplications arise from an event termed unequal crossing-over that occurs during meiosis between misaligned homologous chromosomes. The chance of it happening is a function of the degree of sharing of repetitive elements between two chromosomes. The products of this recombination are a duplication at the site of the exchange and a reciprocal deletion. Ectopic recombina ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
