Amelanism
Encyclopedia
Biological pigment
Biological pigments, also known simply as pigments or biochromes are substances produced by living organisms that have a color resulting from selective color absorption. Biological pigments include plant pigments and flower pigments...
called melanin
Melanin
Melanin is a pigment that is ubiquitous in nature, being found in most organisms . In animals melanin pigments are derivatives of the amino acid tyrosine. The most common form of biological melanin is eumelanin, a brown-black polymer of dihydroxyindole carboxylic acids, and their reduced forms...
s, commonly associated with a genetic
Genetics
Genetics , a discipline of biology, is the science of genes, heredity, and variation in living organisms....
loss of tyrosinase
Tyrosinase
Tyrosinase also known as monophenol monooxygenase is an enzyme that catalyses the oxidation of phenols and is widespread in plants and animals...
function. Amelanism can affect fish
Fish
Fish are a paraphyletic group of organisms that consist of all gill-bearing aquatic vertebrate animals that lack limbs with digits. Included in this definition are the living hagfish, lampreys, and cartilaginous and bony fish, as well as various extinct related groups...
, amphibian
Amphibian
Amphibians , are a class of vertebrate animals including animals such as toads, frogs, caecilians, and salamanders. They are characterized as non-amniote ectothermic tetrapods...
s, reptile
Reptile
Reptiles are members of a class of air-breathing, ectothermic vertebrates which are characterized by laying shelled eggs , and having skin covered in scales and/or scutes. They are tetrapods, either having four limbs or being descended from four-limbed ancestors...
s, bird
Bird
Birds are feathered, winged, bipedal, endothermic , egg-laying, vertebrate animals. Around 10,000 living species and 188 families makes them the most speciose class of tetrapod vertebrates. They inhabit ecosystems across the globe, from the Arctic to the Antarctic. Extant birds range in size from...
s, and mammal
Mammal
Mammals are members of a class of air-breathing vertebrate animals characterised by the possession of endothermy, hair, three middle ear bones, and mammary glands functional in mothers with young...
s including humans. The appearance of an amelanistic animal depends on the remaining non-melanin pigments. The opposite of amelanism is melanism
Melanism
Melanism is an undue development of dark-colored pigment in the skin or its appendages, and the opposite of albinism. It is also the medical term for black jaundice.The word is deduced from the , meaning black pigment....
, an overabundance of melanin.
Melanins and melanin production
MelaninMelanin
Melanin is a pigment that is ubiquitous in nature, being found in most organisms . In animals melanin pigments are derivatives of the amino acid tyrosine. The most common form of biological melanin is eumelanin, a brown-black polymer of dihydroxyindole carboxylic acids, and their reduced forms...
is a compound found in plant
Plant
Plants are living organisms belonging to the kingdom Plantae. Precise definitions of the kingdom vary, but as the term is used here, plants include familiar organisms such as trees, flowers, herbs, bushes, grasses, vines, ferns, mosses, and green algae. The group is also called green plants or...
s, animal
Animal
Animals are a major group of multicellular, eukaryotic organisms of the kingdom Animalia or Metazoa. Their body plan eventually becomes fixed as they develop, although some undergo a process of metamorphosis later on in their life. Most animals are motile, meaning they can move spontaneously and...
s, and protist
Protist
Protists are a diverse group of eukaryotic microorganisms. Historically, protists were treated as the kingdom Protista, which includes mostly unicellular organisms that do not fit into the other kingdoms, but this group is contested in modern taxonomy...
s, and is derived from the amino acid
Amino acid
Amino acids are molecules containing an amine group, a carboxylic acid group and a side-chain that varies between different amino acids. The key elements of an amino acid are carbon, hydrogen, oxygen, and nitrogen...
tyrosine
Tyrosine
Tyrosine or 4-hydroxyphenylalanine, is one of the 22 amino acids that are used by cells to synthesize proteins. Its codons are UAC and UAU. It is a non-essential amino acid with a polar side group...
. Melanin is a photoprotectant
Photoprotection
Photoprotection is a group of mechanisms that nature has developed to minimize the damage that the human body suffers when exposed to UV radiation...
, absorbing the DNA-damaging
Direct DNA damage
Direct DNA damage can occur when DNA directly absorbs the UV-B-photon. UVB light causes thymine base pairs next to each other in genetic sequences to bond together into thymine dimers, a disruption in the strand, which reproductive enzymes cannot copy...
ultraviolet
Ultraviolet
Ultraviolet light is electromagnetic radiation with a wavelength shorter than that of visible light, but longer than X-rays, in the range 10 nm to 400 nm, and energies from 3 eV to 124 eV...
radiation of the sun. Vertebrate
Vertebrate
Vertebrates are animals that are members of the subphylum Vertebrata . Vertebrates are the largest group of chordates, with currently about 58,000 species described. Vertebrates include the jawless fishes, bony fishes, sharks and rays, amphibians, reptiles, mammals, and birds...
s have melanin in their skin
Skin
-Dermis:The dermis is the layer of skin beneath the epidermis that consists of connective tissue and cushions the body from stress and strain. The dermis is tightly connected to the epidermis by a basement membrane. It also harbors many Mechanoreceptors that provide the sense of touch and heat...
and hair
Hair
Hair is a filamentous biomaterial, that grows from follicles found in the dermis. Found exclusively in mammals, hair is one of the defining characteristics of the mammalian class....
, feather
Feather
Feathers are one of the epidermal growths that form the distinctive outer covering, or plumage, on birds and some non-avian theropod dinosaurs. They are considered the most complex integumentary structures found in vertebrates, and indeed a premier example of a complex evolutionary novelty. They...
s, or scales
Scale (zoology)
In most biological nomenclature, a scale is a small rigid plate that grows out of an animal's skin to provide protection. In lepidopteran species, scales are plates on the surface of the insect wing, and provide coloration...
. They also have two layers of pigmented tissue in the eye: the stroma
Stroma of iris
The stroma of the iris consists of fibers and cells.The former are made up of delicate bundles of fibrous tissue; a few fibers at the circumference of the iris have a circular direction; but the majority radiate toward the pupil, forming by their interlacement delicate meshes in which the vessels...
, at the front of the iris
Iris (anatomy)
The iris is a thin, circular structure in the eye, responsible for controlling the diameter and size of the pupils and thus the amount of light reaching the retina. "Eye color" is the color of the iris, which can be green, blue, or brown. In some cases it can be hazel , grey, violet, or even pink...
, and the iris pigment epithelium
Iris pigment epithelium
The iris pigment epithelium is a two-cell thick layer of cuboidal cells lying behind the iris. Both layers are jet black due to the numerous large melanosomes which pack the cytoplasm of each cell. Towards the central axis, the IPE terminates at the pupillary margin...
, a thin but critical layer of pigmented cells at the back of the iris. Melanin is also present in the inner ear
Inner ear
The inner ear is the innermost part of the vertebrate ear. In mammals, it consists of the bony labyrinth, a hollow cavity in the temporal bone of the skull with a system of passages comprising two main functional parts:...
, and is important for the early development of the auditory system
Auditory system
The auditory system is the sensory system for the sense of hearing.- Outer ear :The folds of cartilage surrounding the ear canal are called the pinna...
. Melanin is also found in parts of the brain
Brain
The brain is the center of the nervous system in all vertebrate and most invertebrate animals—only a few primitive invertebrates such as sponges, jellyfish, sea squirts and starfishes do not have one. It is located in the head, usually close to primary sensory apparatus such as vision, hearing,...
and adrenal gland
Adrenal gland
In mammals, the adrenal glands are endocrine glands that sit atop the kidneys; in humans, the right suprarenal gland is triangular shaped, while the left suprarenal gland is semilunar shaped...
.
Organelle
In cell biology, an organelle is a specialized subunit within a cell that has a specific function, and is usually separately enclosed within its own lipid bilayer....
s called melanosome
Melanosome
In a biological cell, a melanosome is an organelle containing melanin, the most common light-absorbing pigment found in the animal kingdom.Cells that synthesize melanins are called melanocytes, and also the retinal pigment epithelium cells, whereas cells that have merely engulfed the melanosomes...
s. The production of melanins is called melanogenesis. Melanosomes are found in specialized pigment cells called melanocyte
Melanocyte
-External links: - "Eye: fovea, RPE" - "Integument: pigmented skin"...
s, but may also be engulfed by other cells, which are then called melanophages. A critical step in the production of melanins is the catalysis
Catalysis
Catalysis is the change in rate of a chemical reaction due to the participation of a substance called a catalyst. Unlike other reagents that participate in the chemical reaction, a catalyst is not consumed by the reaction itself. A catalyst may participate in multiple chemical transformations....
of tyrosine
Tyrosine
Tyrosine or 4-hydroxyphenylalanine, is one of the 22 amino acids that are used by cells to synthesize proteins. Its codons are UAC and UAU. It is a non-essential amino acid with a polar side group...
by an enzyme
Enzyme
Enzymes are proteins that catalyze chemical reactions. In enzymatic reactions, the molecules at the beginning of the process, called substrates, are converted into different molecules, called products. Almost all chemical reactions in a biological cell need enzymes in order to occur at rates...
called tyrosinase
Tyrosinase
Tyrosinase also known as monophenol monooxygenase is an enzyme that catalyses the oxidation of phenols and is widespread in plants and animals...
, producing dopaquinone. Dopaquinone may become eumelanin, or phaeomelanin. Eumelanin, meaning true black, is a dense compound
Chemical compound
A chemical compound is a pure chemical substance consisting of two or more different chemical elements that can be separated into simpler substances by chemical reactions. Chemical compounds have a unique and defined chemical structure; they consist of a fixed ratio of atoms that are held together...
that absorbs most wavelengths of light, and appears black or brown as a result. Phaeomelanin, meaning rufous-black, is characterized by the presence of sulfur
Sulfur
Sulfur or sulphur is the chemical element with atomic number 16. In the periodic table it is represented by the symbol S. It is an abundant, multivalent non-metal. Under normal conditions, sulfur atoms form cyclic octatomic molecules with chemical formula S8. Elemental sulfur is a bright yellow...
-containing cysteine
Cysteine
Cysteine is an α-amino acid with the chemical formula HO2CCHCH2SH. It is a non-essential amino acid, which means that it is biosynthesized in humans. Its codons are UGU and UGC. The side chain on cysteine is thiol, which is polar and thus cysteine is usually classified as a hydrophilic amino acid...
, and it appears reddish to yellowish as a result. Melanosomes containing eumelanin are eumelanosomes, while those containing phaeomelanin are phaeomelanosomes. A hormone called Melanocortin 1 receptor
Melanocortin 1 receptor
The melanocortin 1 receptor , also known as melanocyte-stimulating hormone receptor , melanin-activating peptide receptor, or melanotropin receptor, is a G protein-coupled receptor which binds to a class of pituitary peptide hormones known as the melanocortins, of which include adrenocorticotropic...
(MC1R) commits melanocytes to the production of eumelanin. Another chemical, Agouti signalling peptide
Agouti signalling peptide
Agouti signalling peptide, a product of the Agouti gene, is a peptide consisting of 131 amino acids. Its discovery was published in 1994 in the scientific journal Nature where its functional properties were described...
, can attach itself to MC1R and interfere with this signalling. In the absence of MC1R, melanocytes produce phaeomelanin. Hair acquires pigment from melanocytes in the root bulb, which deposit melanosomes into the growing hair structure.
Chromatophore
Chromatophores are pigment-containing and light-reflecting cells found in amphibians, fish, reptiles, crustaceans, and cephalopods. They are largely responsible for generating skin and eye colour in cold-blooded animals and are generated in the neural crest during embryonic development...
s found in fishes, amphibians, and reptiles, are derived from a strip of tissue in the embryo
Embryo
An embryo is a multicellular diploid eukaryote in its earliest stage of development, from the time of first cell division until birth, hatching, or germination...
called the neural crest
Neural crest
Neural crest cells are a transient, multipotent, migratory cell population unique to vertebrates that gives rise to a diverse cell lineage including melanocytes, craniofacial cartilage and bone, smooth muscle, peripheral and enteric neurons and glia....
. Stem cell
Stem cell
This article is about the cell type. For the medical therapy, see Stem Cell TreatmentsStem cells are biological cells found in all multicellular organisms, that can divide and differentiate into diverse specialized cell types and can self-renew to produce more stem cells...
s in the neural crest give rise to the cells of the autonomic nervous system
Autonomic nervous system
The autonomic nervous system is the part of the peripheral nervous system that acts as a control system functioning largely below the level of consciousness, and controls visceral functions. The ANS affects heart rate, digestion, respiration rate, salivation, perspiration, diameter of the pupils,...
, supportive elements of the skeleton such as chondrocyte
Chondrocyte
Chondrocytes are the only cells found in cartilage. They produce and maintain the cartilaginous matrix, which consists mainly of collagen and proteoglycans...
s, cells of the endocrine system
Endocrine system
In physiology, the endocrine system is a system of glands, each of which secretes a type of hormone directly into the bloodstream to regulate the body. The endocrine system is in contrast to the exocrine system, which secretes its chemicals using ducts. It derives from the Greek words "endo"...
, and melanocytes. This strip of tissue is found along the dorsal midline of the embryo
Embryo
An embryo is a multicellular diploid eukaryote in its earliest stage of development, from the time of first cell division until birth, hatching, or germination...
, and multipotent cells migrate down along the sides of the embryo, or through germ layer
Germ layer
A germ layer, occasionally referred to as a germinal epithelium, is a group of cells, formed during animal embryogenesis. Germ layers are particularly pronounced in the vertebrates; however, all animals more complex than sponges produce two or three primary tissue layers...
s, to their ultimate destinations. Melanocyte stem cells are called melanoblasts. Conditions associated with abnormalities in the migration of melanoblasts are known collectively as piebaldism
Piebaldism
Piebaldism is a rare autosomal dominant disorder of melanocyte development. Common characteristics include a congenital white forelock, scattered normal pigmented and hypopigmented macules and a triangular shaped depigmented patch on the forehead....
. Pigment cells of the iris pigment epithelium
Iris pigment epithelium
The iris pigment epithelium is a two-cell thick layer of cuboidal cells lying behind the iris. Both layers are jet black due to the numerous large melanosomes which pack the cytoplasm of each cell. Towards the central axis, the IPE terminates at the pupillary margin...
have a separate embryological origin. Piebaldism and amelanism are distinct conditions.
Amelanism in mammals
The only pigments that mammals produce are melanins. For a mammal to be unable to chemically manufacture melanin renders it completely pigmentless. This condition is more commonly called albinismAlbinism
Albinism is a congenital disorder characterized by the complete or partial absence of pigment in the skin, hair and eyes due to absence or defect of an enzyme involved in the production of melanin...
. Amelanistic mammals have white hair, pink skin, and eyes that have a pink, red, or violet appearance. Reddish eyes are due to the lack of pigment in the iris pigment epithelium
Iris pigment epithelium
The iris pigment epithelium is a two-cell thick layer of cuboidal cells lying behind the iris. Both layers are jet black due to the numerous large melanosomes which pack the cytoplasm of each cell. Towards the central axis, the IPE terminates at the pupillary margin...
. When the stroma
Stroma of iris
The stroma of the iris consists of fibers and cells.The former are made up of delicate bundles of fibrous tissue; a few fibers at the circumference of the iris have a circular direction; but the majority radiate toward the pupil, forming by their interlacement delicate meshes in which the vessels...
is unpigmented but the iris pigment epithelium is not, mammalian eyes appear blue. Melanin in the pigment epithelium is critical for visual acuity and contrast.
Loss of melanogenesis function is linked to the gene
Gene
A gene is a molecular unit of heredity of a living organism. It is a name given to some stretches of DNA and RNA that code for a type of protein or for an RNA chain that has a function in the organism. Living beings depend on genes, as they specify all proteins and functional RNA chains...
that encodes tyrosinase
Tyrosinase
Tyrosinase also known as monophenol monooxygenase is an enzyme that catalyses the oxidation of phenols and is widespread in plants and animals...
. Certain allele
Allele
An allele is one of two or more forms of a gene or a genetic locus . "Allel" is an abbreviation of allelomorph. Sometimes, different alleles can result in different observable phenotypic traits, such as different pigmentation...
s of this gene, TYR, at the Color locus, cause oculocutaneous albinism type 1
Oculocutaneous albinism
Oculocutaneous albinism is a form of albinism involving the eyes , skin , and in rare instances, the hair as well.Four types of oculocutaneous albinism have been described, all caused by a disruption of melanin synthesis and all autosomal recessive disorders.Common Albinism requires genes from both...
in humans and the familiar red-eyed albino conditions in mice
MICE
-Fiction:*Mice , alien species in The Hitchhiker's Guide to the Galaxy*The Mice -Acronyms:* "Meetings, Incentives, Conferencing, Exhibitions", facilities terminology for events...
and other mammals.
Amelanism in other vertebrates
Other vertebrates, such as fishes, amphibians, reptiles and birds, produce a variety of non-melanin pigmentsBiological pigment
Biological pigments, also known simply as pigments or biochromes are substances produced by living organisms that have a color resulting from selective color absorption. Biological pigments include plant pigments and flower pigments...
. Disruption of melanin production does not affect the production of these pigments. Non-melanin pigments in other vertebrates are produced by cells called chromatophore
Chromatophore
Chromatophores are pigment-containing and light-reflecting cells found in amphibians, fish, reptiles, crustaceans, and cephalopods. They are largely responsible for generating skin and eye colour in cold-blooded animals and are generated in the neural crest during embryonic development...
s. Within this categorization, xanthophores are cells that contain primarily yellowish pteridines, while erythrophores contain primarily orangish carotenoid
Carotenoid
Carotenoids are tetraterpenoid organic pigments that are naturally occurring in the chloroplasts and chromoplasts of plants and some other photosynthetic organisms like algae, some bacteria, and some types of fungus. Carotenoids can be synthesized fats and other basic organic metabolic building...
s. Some species also possess iridophores or leucophores, which do not contain true pigments, but light-reflective structures that give iridescence. An extremely uncommon type of chromatophore, the cyanophore, produces a very vivid blue pigment. Amelanism in fishes, amphibians, reptiles and birds has the same genetic
Genetics
Genetics , a discipline of biology, is the science of genes, heredity, and variation in living organisms....
etiology
Etiology
Etiology is the study of causation, or origination. The word is derived from the Greek , aitiologia, "giving a reason for" ....
as in mammals: loss of tyrosinase
Tyrosinase
Tyrosinase also known as monophenol monooxygenase is an enzyme that catalyses the oxidation of phenols and is widespread in plants and animals...
function. However, due to the presence of other pigments, other amelanistic vertebrates are seldom white and red-eyed like amelanistic mammals.
Aeumelanism
Melanocytes depend on the hormone Melanocortin 1 receptorMelanocortin 1 receptor
The melanocortin 1 receptor , also known as melanocyte-stimulating hormone receptor , melanin-activating peptide receptor, or melanotropin receptor, is a G protein-coupled receptor which binds to a class of pituitary peptide hormones known as the melanocortins, of which include adrenocorticotropic...
(MC1R) to signal the production of eumelanin. Loss of melanocortin 1 receptor function or high activity of the MC1R-antagonist, Agouti signalling peptide
Agouti signalling peptide
Agouti signalling peptide, a product of the Agouti gene, is a peptide consisting of 131 amino acids. Its discovery was published in 1994 in the scientific journal Nature where its functional properties were described...
, can cause the widespread absence of eumelanin. Loss of MC1R function, a recessive trait, has been observed in many species. In humans, various mutation
Mutation
In molecular biology and genetics, mutations are changes in a genomic sequence: the DNA sequence of a cell's genome or the DNA or RNA sequence of a virus. They can be defined as sudden and spontaneous changes in the cell. Mutations are caused by radiation, viruses, transposons and mutagenic...
s of the MC1r gene result in red hair
Red hair
Red hair occurs on approximately 1–2% of the human population. It occurs more frequently in people of northern or western European ancestry, and less frequently in other populations...
, blond hair, fair skin, and susceptibility to sundamaged skin and melanoma
Melanoma
Melanoma is a malignant tumor of melanocytes. Melanocytes are cells that produce the dark pigment, melanin, which is responsible for the color of skin. They predominantly occur in skin, but are also found in other parts of the body, including the bowel and the eye...
. Aeumelanic hair coats, associated with mutations of the MC1R gene, have also been identified in mice, cattle, dogs, and horses. These coat colors are called "yellow" in mice and dogs, "red" in cattle and chestnut
Chestnut (coat)
Chestnut is a hair coat color of horses consisting of a reddish-to-brown coat with a mane and tail the same or lighter in color than the coat. Genetically and visually, chestnut is characterized by the absolute absence of true black hairs...
in horses. The loss of eumelanin in the coat is, in these species, harmless. The distinction between aeumelanism and hyperphaeomelanism - over abundance of phaeomelanin - is semantic.
Aphaeomelanism
Aphaeomelanism is the abnormal absence of phaeomelanin from the integumentary systemIntegumentary system
The integumentary system is the organ system that protects the body from damage, comprising the skin and its appendages...
and/or eyes. Phaeomelanin is produced by melanocytes in the absence of melanocortin 1 receptor. This absence is mediated by agouti signalling protein, which antagonizes melanocortin 1 receptor. Loss of function of agouti signalling protein can permit unmediated phaeomelanin production, producing a uniformly black-to-brown coat color. This condition can be observed in dogs, cats, and horses. The appearance of mammals with recessive agouti mutations is typically dense black. As with aeumelanism, the difference between lack of phaeomelanin and abundance of eumelanin is one of words. Some agouti alleles in mice are associated with health defects, but this is not the case in dogs, cats, or horses.