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C2orf27
Uncharacterized protein C2orf27 is a protein that in humans is encoded by the ''C2orf27A gene''. Although its function is not clearly understood, through the use of bioinformatic analysis more information is being brought to light. Gene The mRNA is 1,222bp in length and is located at 2q21.2 with a total of five exons in ''Homo sapiens''. Other sources list ''C2orf27B'' as a paralog but this is unlikely because both genes are located in the same place on chromosome 2. It seems to be generally accepted that they are the same gene. Other gene aliases include ''C2orf27'' and chromosome 2 open reading frame 27A. The gene is surrounded upstream by POTEKP and downstream by ANKRD30BL. Protein The length of the C2orf27 protein sequence is 203 a.a. in length and has a molecular weight of 21.5 kDa with a pI of 5.13 in ''Homo sapiens''. When taking into account the primate orthologs, the molecular weights range from 21.4 to 36.7 kDa with the isoelectric point ranging from 4.58 to 5.2 ...
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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 residue ...
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Polyproline Helix
A polyproline helix is a type of protein secondary structure which occurs in proteins comprising repeating proline residues. A left-handed polyproline II helix (PPII, poly-Pro II) is formed when sequential residues all adopt (φ,ψ) backbone dihedral angles of roughly (-75°, 150°) and have ''Cis–trans isomerism, trans'' isomers of their peptide bonds. This PPII conformation is also common in proteins and polypeptides with other amino acids apart from proline. Similarly, a more compact right-handed polyproline I helix (PPI, poly-Pro I) is formed when sequential residues all adopt (φ,ψ) backbone dihedral angles of roughly (-75°, 160°) and have ''Cis–trans isomerism, cis'' isomers of their peptide bonds. Of the twenty common naturally occurring amino acids, only proline is likely to adopt the ''cis'' isomer of the peptide bond, specifically the X-Pro peptide bond; steric and electronic factors heavily favor the ''trans'' isomer in most other peptide bonds. However, peptide bo ...
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Chimeric Gene
Chimeric genes (literally, made of parts from different sources) form through the combination of portions of two or more coding sequences to produce new genes. These mutations are distinct from fusion genes which merge whole gene sequences into a single reading frame and often retain their original functions. Formation Chimeric genes can form through several different means. Many chimeric genes form through errors in DNA replication or DNA repair so that pieces of two different genes are inadvertently combined.Rogers, RL, Bedford, T and Hartl DL. "Formation and Longevity of Chimeric and Duplicat Genes in ''Drosphila''". ''Genetics''. 181: 313-322. Chimeric genes can also form through retrotransposition where a retrotransposon accidentally copies the transcript of a gene and inserts it into the genome in a new location. Depending on where the new retrogene appears, it can recruit new exons to produce a chimeric gene. Finally, ectopic recombination, when there is an exchange ...
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Integrin
Integrins are transmembrane receptors that facilitate cell-cell and cell-extracellular matrix (ECM) adhesion. Upon ligand binding, integrins activate signal transduction pathways that mediate cellular signals such as regulation of the cell cycle, organization of the intracellular cytoskeleton, and movement of new receptors to the cell membrane. The presence of integrins allows rapid and flexible responses to events at the cell surface (''e.g''. signal platelets to initiate an interaction with coagulation factors). Several types of integrins exist, and one cell generally has multiple different types on its surface. Integrins are found in all animals while integrin-like receptors are found in plant cells. Integrins work alongside other proteins such as cadherins, the immunoglobulin superfamily cell adhesion molecules, selectins and syndecans, to mediate cell–cell and cell–matrix interaction. Ligands for integrins include fibronectin, vitronectin, collagen and laminin. Stru ...
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Insulin-like Growth Factor
The insulin-like growth factors (IGFs) are proteins with high sequence similarity to insulin. IGFs are part of a complex system that cells use to communicate with their physiologic environment. This complex system (often referred to as the IGF "axis") consists of two cell-surface receptors (IGF1R and IGF2R), two ligands (IGF-1 and IGF-2), a family of seven high-affinity IGF-binding proteins (IGFBP1 to IGFBP7), as well as associated IGFBP degrading enzymes, referred to collectively as proteases. IGF1/GH axis The IGF "axis" is also commonly referred to as the Growth Hormone/IGF-1 Axis. Insulin-like growth factor 1 (commonly referred to as IGF-1 or at times using Roman numerals as IGF-I) is mainly secreted by the liver as a result of stimulation by growth hormone (GH). IGF-1 is important for both the regulation of normal physiology, as well as a number of pathological states, including cancer. The IGF axis has been shown to play roles in the promotion of cell proliferation and ...
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Calvaria (skull)
The calvaria is the top part of the skull. It is the upper part of the neurocranium and covers the cranial cavity containing the brain. It forms the main component of the skull roof. The calvaria is made up of the superior portions of the frontal bone, occipital bone, and parietal bones. In the human skull, the sutures between the bones normally remain flexible during the first few years of postnatal development, and fontanelles are palpable. Premature complete ossification of these sutures is called craniosynostosis. In Latin, the word ''calvaria'' is used as a feminine noun with plural ''calvariae''; however, many medical texts list the word as ''calvarium'', a neuter Latin noun with plural ''calvaria''. Structure The outer surface of the skull possesses a number of landmarks. The point at which the frontal bone and the two parietal bones meet is known as "Bregma". The point at which the two parietal bones and the occipital bone meet is known as "Lambda". Not only do t ...
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Craniosynostosis
Craniosynostosis is a condition in which one or more of the fibrous sutures in a young infant's skull prematurely fuses by turning into bone (ossification), thereby changing the growth pattern of the skull. Because the skull cannot expand perpendicular to the fused suture, it compensates by growing more in the direction parallel to the closed sutures. Sometimes the resulting growth pattern provides the necessary space for the growing brain, but results in an abnormal head shape and abnormal facial features. In cases in which the compensation does not effectively provide enough space for the growing brain, craniosynostosis results in increased intracranial pressure leading possibly to visual impairment, sleeping impairment, eating difficulties, or an impairment of mental development combined with a significant reduction in IQ. Craniosynostosis occurs in one in 2000 births. Craniosynostosis is part of a syndrome in 15% to 40% of affected patients, but it usually occurs as an isol ...
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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 recombination is ...
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Chromosome 13
Chromosome 13 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 13 spans about 114 million base pairs (the building material of DNA) and represents between 3.5 and 4% of the total DNA in cells. Genes Number of genes The following are some of the gene count estimates of human chromosome 13. Because researchers use different approaches to genome annotation their predictions of the number of genes on each chromosome varies (for technical details, see gene prediction). Among various projects, the collaborative consensus coding sequence project ( CCDS) takes an extremely conservative strategy. So CCDS's gene number prediction represents a lower bound on the total number of human protein-coding genes. Gene list The following is a partial list of genes on human chromosome 13. For complete list, see the link in the infobox on the right. Diseases and disorders The following diseases and disorders are some of those rel ...
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Gorilla
Gorillas are herbivorous, predominantly ground-dwelling great apes that inhabit the tropical forests of equatorial Africa. The genus ''Gorilla'' is divided into two species: the eastern gorilla and the western gorilla, and either four or five subspecies. The DNA of gorillas is highly similar to that of humans, from 95 to 99% depending on what is included, and they are the next closest living relatives to humans after chimpanzees and bonobos. Gorillas are the largest living primates, reaching heights between 1.25 and 1.8 metres, weights between 100 and 270 kg, and arm spans up to 2.6 metres, depending on species and sex. They tend to live in troops, with the leader being called a silverback. The Eastern gorilla is distinguished from the Western by darker fur colour and some other minor morphological differences. Gorillas tend to live 35–40 years in the wild. The oldest gorilla known is Fatou (b. 1957), who is still alive at the advanced age of 65 years. Gorillas' ...
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Chimpanzee
The chimpanzee (''Pan troglodytes''), also known as simply the chimp, is a species of great ape native to the forest and savannah of tropical Africa. It has four confirmed subspecies and a fifth proposed subspecies. When its close relative the bonobo was more commonly known as the pygmy chimpanzee, this species was often called the common chimpanzee or the robust chimpanzee. The chimpanzee and the bonobo are the only species in the genus ''Pan''. Evidence from fossils and DNA sequencing shows that ''Pan'' is a sister taxon to the human lineage and is humans' closest living relative. The chimpanzee is covered in coarse black hair, but has a bare face, fingers, toes, palms of the hands, and soles of the feet. It is larger and more robust than the bonobo, weighing for males and for females and standing . The chimpanzee lives in groups that range in size from 15 to 150 members, although individuals travel and forage in much smaller groups during the day. The species lives in ...
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Gene Duplication Event
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 gene– ...
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