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Membrane-associated Transporter Protein
Membrane-associated transporter protein (MATP), also known as solute carrier family 45 member 2 (SLC45A2) or melanoma antigen AIM1, is a protein that in humans is encoded by the ''SLC45A2'' gene. Function SLC45A2 is a transporter protein that mediates melanin synthesis. It may regulate the pH of the melanosome, affecting tyrosinase activity. SLC45A2 is also a melanocyte differentiation antigen that is expressed in a high percentage of melanoma cell lines. A similar sequence gene in medaka fish, 'B,' encodes a transporter that mediates melanin synthesis. Mutations in this gene are a cause of oculocutaneous albinism type 4. Alternative splicing results in multiple transcript variants encoding different isoforms. Protein expression is localized to the melanosome, and analysis of the by knockdown of RNA expression leads to altered melanosome pH potentially altering tyrosinase function by affecting copper binding. In melanocytic cell types, the SLC45A2 gene is regulated by mic ... [...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 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 ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Oculocutaneous Albinism
Oculocutaneous albinism is a form of albinism involving the eyes ('' oculo-''), the skin (''-cutaneous''), and the hair. Overall, an estimated 1 in 20,000 people worldwide are born with oculocutaneous albinism. OCA is caused by mutations in several genes that control the synthesis of melanin within the melanocytes. Seven types of oculocutaneous albinism have been described, all caused by a disruption of melanin synthesis and all autosomal recessive disorders. Oculocutaneous albinism is also found in non-human animals. Types The following types of oculocutaneous albinism have been identified in humans. See also * Piebaldism * List of skin conditions * List of cutaneous conditions associated with increased risk of nonmelanoma skin cancer There are several conditions of or affecting the human integumentary system that are associated with an increased risk of developing nonmelanoma skin cancer (i.e. squamous-cell carcinoma and basal-cell carcinoma). See also * List of c ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
White Tiger
The white tiger or bleached tiger is a leucistic pigmentation variant of the Mainland tiger. It is reported in the wild from time to time in the Indian states of Madhya Pradesh, Assam, West Bengal, Bihar, Odisha, in the Sunderbans region and especially in the former State of Rewa. It has the typical black stripes of a tiger, but carries a white or near-white coat. Variation The white Bengal tigers are distinctive due to the color of their fur. The white fur caused by a lack of the pigment pheomelanin, which is found in Bengal tigers with orange color fur. When compared to Bengal tigers, the white Bengal tigers tend to grow faster and heavier than the orange Bengal tiger. They also tend to be somewhat bigger at birth, and as fully grown adults. White Bengal tigers are fully grown when they are 2–3 years of age. White male tigers reach weights of and can grow up to in length. As with all tigers, the white Bengal tiger's stripes are like fingerprints, with no two tigers ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cream Gene
The cream gene is responsible for a number of horse coat colors. Horses that have the cream gene in addition to a base coat color that is chestnut will become palomino if they are heterozygous, having one copy of the cream gene, or cremello, if they are homozygous. Similarly, horses with a bay base coat and the cream gene will be buckskin or perlino. A black base coat with the cream gene becomes the not-always-recognized smoky black or a smoky cream. Cream horses, even those with blue eyes, are not white horses. Dilution coloring is also not related to any of the white spotting patterns. The cream gene (''CCr'') is an incomplete dominant allele with a distinct dosage effect. The DNA sequence responsible for the cream colors is the cream allele, which is at a specific locus on the solute carrier family 45 member 2 (''SLC45A2'') gene (previously known as ''MATP'' and ''OCA4'', among others). Its general effect is to lighten the coat, skin and eye colors. When one copy of ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Johns Hopkins University
Johns Hopkins University (Johns Hopkins, Hopkins, or JHU) is a private research university in Baltimore, Maryland. Founded in 1876, Johns Hopkins is the oldest research university in the United States and in the western hemisphere. It consistently ranks among the most prestigious universities in the United States and the world. The university was named for its first benefactor, the American entrepreneur and Quaker philanthropist Johns Hopkins. Hopkins' $7 million bequest to establish the university was the largest philanthropic gift in U.S. history up to that time. Daniel Coit Gilman, who was inaugurated as Johns Hopkins's first president on February 22, 1876, led the university to revolutionize higher education in the U.S. by integrating teaching and research. In 1900, Johns Hopkins became a founding member of the American Association of Universities. The university has led all U.S. universities in annual research expenditures over the past three decades. Johns Hopkin ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Mendelian Inheritance In Man
Online Mendelian Inheritance in Man (OMIM) is a continuously updated catalog of human genes and genetic disorders and traits, with a particular focus on the gene-phenotype relationship. , approximately 9,000 of the over 25,000 entries in OMIM represented phenotypes; the rest represented genes, many of which were related to known phenotypes. Versions and history OMIM is the online continuation of Dr. Victor A. McKusick's ''Mendelian Inheritance in Man'' (MIM), which was published in 12 editions between 1966 and 1998.McKusick, V. A. ''Mendelian Inheritance in Man. Catalogs of Autosomal Dominant, Autosomal Recessive and X-Linked Phenotypes.'' Baltimore, MD: Johns Hopkins University Press, 1st ed, 1996; 2nd ed, 1969; 3rd ed, 1971; 4th ed, 1975; 5th ed, 1978; 6th ed, 1983; 7th ed, 1986; 8th ed, 1988; 9th ed, 1990; 10th ed, 1992. Nearly all of the 1,486 entries in the first edition of MIM discussed phenotypes. MIM/OMIM is produced and curated at the Johns Hopkins School of Medicine ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Ancestry-informative Marker
In population genetics, an ancestry-informative marker (AIM) is a single-nucleotide polymorphism that exhibits substantially different frequencies between different populations. A set of many AIMs can be used to estimate the proportion of ancestry of an individual derived from each population. A single-nucleotide polymorphism is a modification of a single nucleotide base within a DNA sequence. There are an estimated 15 million SNP (Single-nucleotide polymorphism) sites (out of roughly 3 billion base pairs, or about 0.4%) from among which AIMs may potentially be selected. The SNPs that relate to ancestry are often traced to the Y chromosome and mitochondrial DNA because both of these areas are inherited from one parent, eradicating complexities that come with parental gene recombination. SNP mutations are rare, so sequences with SNPs tend to be passed down through generations rather than altered each generation. However, because any given SNP is relatively common in a population ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Human Skin Colour
Human skin color ranges from the darkest brown to the lightest hues. Differences in skin color among individuals is caused by variation in pigmentation, which is the result of genetics (inherited from one's biological parents and or individual gene alleles), exposure to the sun, natural and sexual selection, or all of these. Differences across populations evolved through natural or sexual selection, because of social norms and differences in environment, as well as regulations of the biochemical effects of ultraviolet radiation penetrating the skin. The actual skin color of different humans is affected by many substances, although the single most important substance is the pigment melanin. Melanin is produced within the skin in cells called melanocytes and it is the main determinant of the skin color of darker-skin humans. The skin color of people with light skin is determined mainly by the bluish-white connective tissue under the dermis and by the hemoglobin circulating ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Microphthalmia-associated Transcription Factor
Microphthalmia-associated transcription factor also known as class E basic helix-loop-helix protein 32 or bHLHe32 is a protein that in humans is encoded by the ''MITF'' gene. MITF is a basic helix-loop-helix leucine zipper transcription factor involved in lineage-specific pathway regulation of many types of cells including melanocytes, osteoclasts, and mast cells. The term "lineage-specific", since it relates to MITF, means genes or traits that are only found in a certain cell type. Therefore, MITF may be involved in the rewiring of signaling cascades that are specifically required for the survival and physiological function of their normal cell precursors. MITF, together with transcription factor EB ( TFEB), TFE3 and TFEC, belong to a subfamily of related bHLHZip proteins, termed the MiT-TFE family of transcription factors. The factors are able to form stable DNA-binding homo- and heterodimers. The gene that encodes for MITF resides at the ''mi'' locus in mice, and its prot ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Medaka
The Japanese rice fish (''Oryzias latipes''), also known as the medaka, is a member of genus ''Oryzias'' ( ricefish), the only genus in the subfamily Oryziinae. This small (up to about ) native of East Asia is a denizen of rice paddies, marshes, ponds, slow-moving streams and tide pools. It is euryhaline, occurring in both brackish and freshwater. It became popular as an aquarium fish because of its hardiness and pleasant coloration: its coloration varies from creamy-white to yellowish in the wild to white, creamy-yellow, or orange in aquarium-bred individuals. Bright yellow, red or green transgenic populations, similar to GloFish, have also been developed, but are banned from sale in the EU. The medaka has been a popular pet since the 17th century in Japan. After fertilization, the female carries her eggs attached anterior to the anal fin for a period before depositing them on plants or similar things. Ecology Medaka live in small ponds, shallow rivers, and rice fields. The ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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 ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Melanoma
Melanoma, also redundantly known as malignant melanoma, is a type of skin cancer that develops from the pigment-producing cells known as melanocytes. Melanomas typically occur in the skin, but may rarely occur in the mouth, intestines, or eye (uveal melanoma). In women, they most commonly occur on the legs, while in men, they most commonly occur on the back. About 25% of melanomas develop from moles. Changes in a mole that can indicate melanoma include an increase in size, irregular edges, change in color, itchiness, or skin breakdown. The primary cause of melanoma is ultraviolet light (UV) exposure in those with low levels of the skin pigment melanin. The UV light may be from the sun or other sources, such as tanning devices. Those with many moles, a history of affected family members, and poor immune function are at greater risk. A number of rare genetic conditions, such as xeroderma pigmentosum, also increase the risk. Diagnosis is by biopsy and analysis of any skin lesio ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
