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1, Introduction Introduction 1, Introduction Introduction History of research on human pigmentation although can be traced back to 2200 BC, the quest for understanding the mechanism of various aspects of pigmentation still continues. There is no doubt that the visual impressions of body form and color are important in the interactions within and between human communities. Further a number of diseases or malformations are known to be associated with various pigmentory disorders. Thus this area of research is of tremendous importance. In biology, a pigment is any material resulting in color of plant or animal cells, which is the result of selective color absorption. Many biological structures, such as skin, eyes, fur and hair contain pigments (such as melanin) in specialized cells called chromatophores. Study of pigmentation patterns provides a model system to study genetic as well as phenotypic variations as it provides a manifestation of the complex interplay between environmental cues, signal transduction pathways, several modifications at transcriptional- protein level. Thus pigment genes were "pioneers" for the exploration of mouse genetics leading to the identification of 127 different loci of which 63 different genes have been charaterised so far (Silvers 1979; Bennett and Lamourex, 2003; Getting 2005). A summary of the location and function of important genes in melanogenesis identified till date is presented in table 1. Introduction Mouse Coat Human Human Mutation/ Protein Function Colour Locus Chromosome Phenotype Melanosome proteins Oxidation of tyrosine, Albino(c) TYR llq-q21 Tyrosinase OCAl DOPA DHICA oxidation, Brown (b) TYRPl 9p23 Gp75/TYRP1 0CA3 TYR stabilization Dopachrome Slaty (sit) DCT 13q32 TYRP2 7 tautomerase DHICA Silver (si) SILV 12pl3-ql4 GplOO/pMell7/silver 7 polymerizadon/stabling Pink eyed 0CA2 15qll.2-ql2 P-protein 0CA2 PH of melanosome dilute (p) Underwhite Homology of sugar LOC51151 5pl4.3-ql2.3 AIM-1 OCA4 (uw) transporters Signal proteins Agouti (s) ASIP 20qll.2-ql2 Agouti signal protein 7 MCIR antagonist G-protein coupled Extension (e) MCIR 16q24.3 MSH receptor Red Hair receptor Pomc(l) POMC 2p23.3 POMC,MSH,ACTH OA MCIR antagonist Wardenburg G-protein coupled Oal OAl Xp22.3 OAl protein syndrome type receptor 2 Micropthalmia MITF 3pl2.3-14.1 MITF Transcription factor (mi) Melanosome transport/uptake by keratinocyte Griscelli Dilute (d) MY05A 15q21 Myosin Va Motor protein syndrome Griscelli Ashen (ash) RAB27A 15q21 Rab27a RAS family protein syndrome G-protein coupled F2rll F2RL1 5ql3 PAR2 7 receptor Table.l Important genes in melanogenesis, protein product and function (Adaptedfrom Sturm etal., 2001) Introduction 1.1 Biochemistry of Pigmentation 1.1.1 Melanocyte, epidermal -melanin unit, melanosomes Melanin synthesis takes place in specialized cells termed as melanocytes (Odland and Reed, 1967). The majority of melanocytes are found in the epidermis of the skin, stria vascularis of inner ear, pigmented retinal epithelium and choroid layer of the eye. These melanocytes comprise a very small proportion of cells present in the epidermis (<1%) and virtually account for all the visible pigmentation in skin, hair and eyes (Jimbow et al., 1993). One melanocyte provides melanin pigment to approximately 36 keratinocytes, forming what is known as an epidermal melanin unit (Fig. IB). Melanin is synthesized through a multistep biochemical pathway in specialized organelles known as the melanosomes. (Fig. lA) Melanosomes are the specialized members of the lysosomal lineage and are formed from the trans-Golgi network (TGN) (Orlow, 1995). Stage I, originally termed a "premelanosome," is a relatively spherical organelle with an amorphous matrix. In stage II, the organelle is ovoid and contains a fibrillar internal matrix. In stage III, the deposition of melanin on the melanosomal matrix becomes evident; and in stage IV, the organelle is completely filled with melanin (reviewed in Nordlund et al., 1998). However, the sequence in which melanosomal proteins are sorted to the organelle and the role(s) they play in its maturation remain largely unknown. Melanosomes are related to lysosomes, and both types of organelles evolve initially via the same pathway (Diment et al 1995; Dell'Angelica et al., 2000 ). Raposo et al. (2001) recently reported that the intracellular processing of GPlOO follows a unique route to form stage I melanosomes that diverges from conventional lysosomes just past the early endosome stage. Introduction R -_ •- SER \, RER v.^-*.- Y • % - ;-... /. .• • • ^=^ '^ Golgi Pre-meionosome ' - /• • * • .•** ,',. • . t Mclonosomc v^ .^ i E^ melanosome keratinocvtes Melanin synthesis' melanocyte tyroi DOPA DOPAquinonr ^^ CysteinjiDOPA Tyros inaje Glutathiont e I cjreteme i 5,6 Dihydroxyindok DOPAthromf Fheo-melanin \ Indole 5,6- quinoiiF ^ $,6~dihydToxyindole 2caiboxylic acid 1 TYRPl Eu-melanin Indole 5,6 quinone caitioxvljc acid Fig. 1 |A| Formation of melanosome. |B| Epidermal melanin unit |C| melanin synthesis pathway (adaptedfrom Aiuh et ai, 2007) 1.1.2 Melanin synthesis pathway Melanin synthesis is a highly cooperative process carried out by tyrosinase family proteins (Fig. Ic). It starts with hydroxylation of L-tyrosine to L-dihydroxyphenylalanine (L-DOPA) ( Furumura et al., 1996). This is the most important reaction in the pathway since the spontaneous rate of tyrosine hydroxylation is negligible. The subsequent step i.e., oxidation of dopa to dopaquinone is also catalysed by tyrosinase. Dopaquinone can give rise to dihydroxyindole spontaneously (DHI) or in presence of TRP2/ Dopachrome Introduction tautomerase gives rise to dihydroxyindole carboxylic acid (DHICA). The DHICA so formed is further oxidised to indole quinones by TRPl. The indole quinone and the carboxylic acid derivatives of the indole quinines, polymerize in a poorly understood reaction to form the eumelanin. The pathway for synthesis of pheomelanin is less well understood. Although both eumelanin and pheomelanins are present to various degrees in human skin and hair (Liu et al, 2005), eumelanin remains the most predominant type of the melanin pigment in humans ( Wielgus and Sama, 2005) 1.1.3 Types of melanin Melanins, the end products of complex multistep transformations of L- tyrosine, are polyacetylene, polyaniline, and polypyrrole polymorphous and multifunctional biopolymers (reviewed in Slominski et al, 2004), represented by eumelanin, pheomelanin, neuromelanin, and mixed melanin pigment, respectively (Prota, 1992,1995). The most common form of biological melanin is a polymer of either or both of two monomer molecules: indolequinone, and dihydroxyindole carboxylic acid. Melanin exists in the plant, animal and protista kingdoms, where it serves as a pigment. Eumelanin polymers have long been thought to comprise numerous cross-linked 5,6-dihydroxyindole (DHI) and 5,6-dihydroxyindole-2-carboxylic acid (DHICA) (structure dipicted in Fig. 2) polymers and are brown black in colour (Sato e/o/., 1985; Hearing, 1987; Thody e?a/., 1991; Prota e? o/., 1992; Norlund et al, 1998; Meredith and Sama, 2006). Introduction "^-'l^ DHI (HO) SO 10 yx^^ :x)H 01 DHICA Fig. 2. The basic monomeric building blocks of eumelanin (DHI and DHICA) and their redox forms. (Adapted from Meredith and Sarna, 2006). Tyrosine can be converted to eumelanin through the following sequential intermediates, Tyrosine —> DOPA —• dopaquinone —> leucodopachrome —> dopachrome —• 5,6- dihydroxyindoIe-2-carboxylic acid —• quinone —+ eumelanin Tyrosine —> DOPA —> dopaquinone —+ leucodopachrome -^ dopachrome —> 5,6- dihydroxyindole —• quinone —> eumelanin Pheomelanins range from yellow to reddish brown pigments. Biosynthesis of pheomelanins differs from that of eumelanins chemically, in that its oligomer structure incorporates the amino acid L-cysteine, as well as DHI and DHICA units. Pheomelanins are mainly concentrated in lips, nipples, glans of the penis and vagina. Tyrosine can be converted to pheomelanin through the following sequential intermediates. Tyrosine —> DOPA -^ dopaquinone + cysteine - 5-S-cysteinyldopa - benzothiazine intermediate —»pheomelanin Tyrosine —> DOPA —> dopaquinone + cysteine ^ 2-S- cysteinyldopa ^ benzothiazine intermediate -^ pheomelanin Introduction Neuromelanin is the dark pigment present in pigment bearing neurons of four deep brain nuclei: the substantia nigra - Pars Compacta part, the locus ceruleus , the dorsal motor nucleus of the vagus nerve (cranial nerve X), and the median raphe nucleus of the pons. Neuromelanins are macropolymers composed of aminochromes and noradrenalinochromes (Stepien et al, 1989; Cartsmen et o/.,1992; Odh et al, 1994; Double et al, 2000). Similar to other melanins, neuromelanins are brown/black pigment with stable paramagnetic properties, insoluble in organic solvents, bleached by hydrogen peroxide, and labeled by silver stain (Zecca et al, 2001). Neuromelanins have mixed properties of both eu- and pheomelanins; they chelate metals and interact with several inorganic and organic compounds (Aime et al, 1994; Double et al, 2000). 1.1.4 Importance of pigmentaion Cutaneous melanin pigment plays a critical role in camouflage, mimicry, social communication, and protection against harmful effects of solar radiation. Melanin is believed to be a photoprotective pigment. The protective action of melanin is related to its high efficiency to absorb and scatter photons, particularly the higher energy photons from the UV and blue part of the solar spectrum. As a result of ultrafast photodynamics, energy of the absorbed photons is rapidly and efficiently converted
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