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FOXI1
Forkhead box I1 is a protein that in humans is encoded by the ''FOXI1'' gene. This gene belongs to the forkhead family of transcription factors which is characterized by a distinct forkhead domain. The specific function of this gene has not yet been determined; however, it is possible that this gene plays an important role in the development of the cochlea and vestibulum, as well as embryogenesis. wo transcript variants encoding different isoforms have been found for this gene. Clinical significance Mutations in this gene are associated with enlarged vestibular aqueduct. See also * FOX proteins FOX (forkhead box) proteins are a family of transcription factors that play important roles in regulating the expression of genes involved in cell growth, proliferation, differentiation, and longevity. Many FOX proteins are important to embryonic ... References Further reading * * * * * * * * * External links GeneReviews/NCBI/NIH/UW entry on Pendred S ...
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FOX Proteins
FOX (forkhead box) proteins are a family of transcription factors that play important roles in regulating the expression of genes involved in cell growth, proliferation, differentiation, and longevity. Many FOX proteins are important to embryonic development. FOX proteins also have pioneering transcription activity by being able to bind condensed chromatin during cell differentiation processes. The defining feature of FOX proteins is the forkhead box, a sequence of 80 to 100 amino acids forming a motif that binds to DNA. This forkhead motif is also known as the winged helix, due to the butterfly-like appearance of the loops in the protein structure of the domain. Forkhead proteins are a subgroup of the helix-turn-helix class of proteins. Biological roles Many genes encoding FOX proteins have been identified. For example, the FOXF2 gene encodes forkhead box F2, one of many human homologues of the ''Drosophila melanogaster'' transcription factor forkhead. FOXF2 is expressed ...
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Protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residues. Proteins perform a vast array of functions within organisms, including catalysing metabolic reactions, DNA replication, responding to stimuli, providing structure to cells and organisms, and transporting molecules from one location to another. Proteins differ from one another primarily in their sequence of amino acids, which is dictated by the nucleotide sequence of their genes, and which usually results in protein folding into a specific 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 peptides. The individual amino acid residues are bonded together by peptide bonds and adjacent amino acid residues. The sequence of amino acid ...
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Gene
In biology, the word gene (from , ; "... Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a basic unit of heredity and 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 noncoding genes. During gene expression, the DNA is first copied into RNA. The RNA can be directly functional or be the intermediate template for a protein that performs a function. The transmission of genes to an organism's offspring is the basis of the inheritance of phenotypic traits. These genes make up different DNA sequences called genotypes. Genotypes along with environmental and developmental factors determine what the phenotypes will be. Most biological traits are under the influence of polygenes (many different genes) as well as ...
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Transcription Factor
In molecular biology, a transcription factor (TF) (or sequence-specific DNA-binding factor) is a protein that controls the rate of transcription of genetic information from DNA to messenger RNA, by binding to a specific DNA sequence. The function of TFs is to regulate—turn on and off—genes in order to make sure that they are expressed in the desired cells at the right time and in the right amount throughout the life of the cell and the organism. Groups of TFs function in a coordinated fashion to direct cell division, cell growth, and cell death throughout life; cell migration and organization ( body plan) during embryonic development; and intermittently in response to signals from outside the cell, such as a hormone. There are up to 1600 TFs in the human genome. Transcription factors are members of the proteome as well as regulome. TFs work alone or with other proteins in a complex, by promoting (as an activator), or blocking (as a repressor) the recruitment of ...
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Cochlea
The cochlea is the part of the inner ear involved in hearing. It is a spiral-shaped cavity in the bony labyrinth, in humans making 2.75 turns around its axis, the modiolus. A core component of the cochlea is the Organ of Corti, the sensory organ of hearing, which is distributed along the partition separating the fluid chambers in the coiled tapered tube of the cochlea. The name cochlea derives . Structure The cochlea (plural is cochleae) is a spiraled, hollow, conical chamber of bone, in which waves propagate from the base (near the middle ear and the oval window) to the apex (the top or center of the spiral). The spiral canal of the cochlea is a section of the bony labyrinth of the inner ear that is approximately 30 mm long and makes 2 turns about the modiolus. The cochlear structures include: * Three ''scalae'' or chambers: ** the vestibular duct or ''scala vestibuli'' (containing perilymph), which lies superior to the cochlear duct and abuts the oval window ** the ...
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Vestibule Of The Ear
The vestibule is the central part of the bony labyrinth in the inner ear, and is situated medial to the eardrum, behind the cochlea, and in front of the three semicircular canals. The name comes from the Latin ', literally an entrance hall. Structure The vestibule is somewhat oval in shape, but flattened transversely; it measures about 5 mm from front to back, the same from top to bottom, and about 3 mm across. In its lateral or tympanic wall is the oval window, closed, in the fresh state, by the base of the stapes and annular ligament. On its medial wall, at the forepart, is a small circular depression, the recessus sphæricus, which is perforated, at its anterior and inferior part, by several minute holes (macula cribrosa media) for the passage of filaments of the acoustic nerve to the saccule; and behind this depression is an oblique ridge, the crista vestibuli, the anterior end of which is named the pyramid of the vestibule. This ridge bifurcates below to enclos ...
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Embryogenesis
An embryo is an initial stage of development of a multicellular organism. In organisms that reproduce sexually, embryonic development is the part of the life cycle that begins just after fertilization of the female egg cell by the male sperm cell. The resulting fusion of these two cells produces a single-celled zygote that undergoes many cell divisions that produce cells known as blastomeres. The blastomeres are arranged as a solid ball that when reaching a certain size, called a morula, takes in fluid to create a cavity called a blastocoel. The structure is then termed a blastula, or a blastocyst in mammals. The mammalian blastocyst hatches before implantating into the endometrial lining of the womb. Once implanted the embryo will continue its development through the next stages of gastrulation, neurulation, and organogenesis. Gastrulation is the formation of the three germ layers that will form all of the different parts of the body. Neurulation forms the nerv ...
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Enlarged Vestibular Aqueduct
Large vestibular aqueduct is a structural deformity of the inner ear. Enlargement of this duct is one of the most common inner ear deformities and is commonly associated with hearing loss during childhood. The term was first discovered in 1791 by Mondini when he was completing a temporal bone dissection. It was then defined by Valvassori and Clemis as a vestibular aqueduct that is greater than or equal to 2.0 mm at the operculum and/or greater than or equal to 1.0 mm at the midpoint. Some use the term enlarged vestibular aqueduct syndrome, but this is felt by others to be erroneous as it is a clinical finding which can occur in several syndromes. Symptoms Although large vestibular aqueducts are a congenital condition, hearing loss may not be present from birth. Age of diagnosis ranges from infancy to adulthood, and symptoms include fluctuating and sometimes progressive sensorineural hearing loss and disequilibrium. It is possible that a small portion of those with large vestibul ...
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