albinism

Summary

Summary: General term for a number of inherited defects of amino acid metabolism in which there is a deficiency or absence of pigment in the eyes, skin, or hair.

Top Publications

  1. Lund P. Health and education of children with albinism in Zimbabwe. Health Educ Res. 2001;16:1-7 pubmed
    b>Albinism is a relatively common genetic condition in Zimbabwe, a tropical country in southern Africa. Those affected have little pigment in their hair, skin or eyes, in sharp contrast to the normal dark pigmentation...
  2. Møller A, Mousseau T. Albinism and phenotype of barn swallows (Hirundo rustica) from Chernobyl. Evolution. 2001;55:2097-104 pubmed
    ..Barn swallows from Chernobyl had a temporally constant, elevated frequency of partial albinism compared to the situation before radioactive contamination and compared to birds from a control area...
  3. Alarcón Martínez L, de la Villa P, Avilés Trigueros M, Blanco R, Villegas Pérez M, Vidal Sanz M. Short and long term axotomy-induced ERG changes in albino and pigmented rats. Mol Vis. 2009;15:2373-83 pubmed
  4. Yakubu A, Mabogunje O. Skin cancer in African albinos. Acta Oncol. 1993;32:621-2 pubmed
    ..No cases of cutaneous melanoma or Kaposi sarcoma were found in the albino group. ..
  5. Bilandzija H, Ma L, Parkhurst A, Jeffery W. A potential benefit of albinism in Astyanax cavefish: downregulation of the oca2 gene increases tyrosine and catecholamine levels as an alternative to melanin synthesis. PLoS ONE. 2013;8:e80823 pubmed publisher
    b>Albinism, the loss of melanin pigmentation, has evolved in a diverse variety of cave animals but the responsible evolutionary mechanisms are unknown...
  6. Tomita Y, Takeda A, Okinaga S, Tagami H, Shibahara S. Human oculocutaneous albinism caused by single base insertion in the tyrosinase gene. Biochem Biophys Res Commun. 1989;164:990-6 pubmed
    Tyrosinase-negative oculocutaneous albinism (OCA) is an inborn error of metabolism, characterized by a complete lack of melanin pigments in the eyes and skin. We have isolated and characterized the tyrosinase gene of one affected child (S...
  7. Schmutz S, Berryere T, Ciobanu D, Mileham A, Schmidtz B, Fredholm M. A form of albinism in cattle is caused by a tyrosinase frameshift mutation. Mamm Genome. 2004;15:62-7 pubmed
    ..Diagnostic genotyping tests were developed to detect this mutation in Braunvieh cattle...
  8. von dem Hagen E, Houston G, Hoffmann M, Jeffery G, Morland A. Retinal abnormalities in human albinism translate into a reduction of grey matter in the occipital cortex. Eur J Neurosci. 2005;22:2475-80 pubmed
    b>Albinism is a genetic condition associated with abnormalities of the visual system...
  9. Beermann F, Orlow S, Lamoreux M. The Tyr (albino) locus of the laboratory mouse. Mamm Genome. 2004;15:749-58 pubmed
    ..We compare eye and skin pigmentation phenotypes and the genetic lesions that cause each. We suggest that this panel of congenic mutants contains rich, untapped resources for the study of many questions of basic cell biological interest...

More Information

Publications66

  1. Martinez Arias R, Comas D, Andres A, Abelló M, Domingo Roura X, Bertranpetit J. The tyrosinase gene in gorillas and the albinism of 'Snowflake'. Pigment Cell Res. 2000;13:467-70 pubmed
    ..One of the gorillas included in the study is the only known case of albinism in a gorilla ('Snowflake')...
  2. Summers C. Albinism: classification, clinical characteristics, and recent findings. Optom Vis Sci. 2009;86:659-62 pubmed publisher
    To describe the clinical characteristics and recent findings in the heterogeneous group of inherited disorders of melanin biosynthesis grouped as "albinism."
  3. Ito S, Suzuki T, Inagaki K, Suzuki N, Takamori K, Yamada T, et al. High frequency of Hermansky-Pudlak syndrome type 1 (HPS1) among Japanese albinism patients and functional analysis of HPS1 mutant protein. J Invest Dermatol. 2005;125:715-20 pubmed
    Hermansky-Pudlak syndrome (HPS) is an autosomal recessive disorder characterized by oculocutaneous albinism (OCA), bleeding tendency, and lysosomal accumulation of ceroid-like material...
  4. Nozaki Y, Nagare Y, Kinoshita K, Urase F, Funauchi M. A case of Behcet's disease in a patient with albinism. Nihon Rinsho Meneki Gakkai Kaishi. 2008;31:68-70 pubmed
    ..She has also hypopigmentation of skin and hair, and optic changes associated with albinism including hypopigmentation of the retina, nystagmus, strabismus, and reduced visual acuity...
  5. Eagleson G, van der Heijden R, Roubos E, Jenks B. A developmental analysis of periodic albinism in the amphibian Xenopus laevis. Gen Comp Endocrinol. 2010;168:302-6 pubmed publisher
    ..The purpose of the present study was to determine to which degree the albinism is intrinsic to the melanophore or involves neuroendocrine malfunction...
  6. Le Fur N, Kelsall S, Mintz B. Base substitution at different alternative splice donor sites of the tyrosinase gene in murine albinism. Genomics. 1996;37:245-8 pubmed
    ..Although the tyrosinase mRNA levels are similar in c2j and wildtype, the protein is virtually absent in c2j, as in c, possibly due to proteolytic degradation...
  7. Lee S, Nicholls R, Bundey S, Laxova R, Musarella M, Spritz R. Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus albinism. N Engl J Med. 1994;330:529-34 pubmed
    Type II (tyrosinase-positive) oculocutaneous albinism is an autosomal recessive disorder that has recently been mapped to chromosome segment 15q11-q13...
  8. Lavado A, Jeffery G, Tovar V, de la Villa P, Montoliu L. Ectopic expression of tyrosine hydroxylase in the pigmented epithelium rescues the retinal abnormalities and visual function common in albinos in the absence of melanin. J Neurochem. 2006;96:1201-11 pubmed
    ..Tyrosinase, the primary enzyme in melanin synthesis commonly mutated in albinism, oxidizes l-tyrosine to l-dopaquinone using l-3,4-dihydroxyphenylalanine (L-DOPA) as an intermediate product...
  9. von dem Hagen E, Houston G, Hoffmann M, Morland A. Pigmentation predicts the shift in the line of decussation in humans with albinism. Eur J Neurosci. 2007;25:503-11 pubmed
    In albinism a large proportion of nerve fibres originating in temporal retina cross the midline at the chiasm and project to the contralateral hemisphere...
  10. Tietz W. A syndrome of deaf-mutism associated with albinism showing dominant autosomal inheritance. Am J Hum Genet. 1963;15:259-64 pubmed
  11. Gresh J, Goletz P, Crouch R, Rohrer B. Structure-function analysis of rods and cones in juvenile, adult, and aged C57bl/6 and Balb/c mice. Vis Neurosci. 2003;20:211-20 pubmed
    ..However, rod photoreceptors appear to be more susceptible to both aging and the lack of pigmentation, when compared to cones. These results may help as we begin to understand certain age-related retinal diseases...
  12. Scheinfeld N. Syndromic albinism: a review of genetics and phenotypes. Dermatol Online J. 2003;9:5 pubmed
    There are several syndromes of albinism associated with systemic pathology...
  13. Prusky G, Harker K, Douglas R, Whishaw I. Variation in visual acuity within pigmented, and between pigmented and albino rat strains. Behav Brain Res. 2002;136:339-48 pubmed
    ..domestication has negatively affected the visual function of laboratory rat strains, what the effects of strain albinism are on rat visual function, or whether there are strain differences in the visual function of laboratory rats ..
  14. Ilia M, Jeffery G. Retinal mitosis is regulated by dopa, a melanin precursor that may influence the time at which cells exit the cell cycle: analysis of patterns of cell production in pigmented and albino retinae. J Comp Neurol. 1999;405:394-405 pubmed
    ..These results are consistent with the hypothesis that dopa is a major regulator of retinal cell production and that it influences the capacity of cells to exit the cell cycle...
  15. Protas M, Hersey C, Kochanek D, Zhou Y, Wilkens H, Jeffery W, et al. Genetic analysis of cavefish reveals molecular convergence in the evolution of albinism. Nat Genet. 2006;38:107-11 pubmed
    ..We focused on the trait of albinism and discovered that it is linked to Oca2, a known pigmentation gene, in two cave populations...
  16. Sachs B. Penile erection in response to remote cues from females: albino rats severely impaired relative to pigmented strains. Physiol Behav. 1996;60:803-8 pubmed
    ..b>Albinism-related neural pathology, possibly outside of the visual system, may contribute to the deficit in NCE in albino ..
  17. Schmidt A, Beermann F. Molecular basis of dark-eyed albinism in the mouse. Proc Natl Acad Sci U S A. 1994;91:4756-60 pubmed
    ..14.18.1), the key enzyme in melanin synthesis. Similar to type IB oculocutaneous albinism in humans, overall production of pigment is greatly reduced in dark-eyed albino mice and obvious only in the eyes...
  18. Taylor J, Lund P. Experiences of a feasibility study of children with albinism in Zimbabwe: a discussion paper. Int J Nurs Stud. 2008;45:1247-56 pubmed
    ..b>Albinism, a genetic condition of reduced melanin synthesis, is a major public health issue in southern Africa...
  19. Lyons L, Imes D, Rah H, Grahn R. Tyrosinase mutations associated with Siamese and Burmese patterns in the domestic cat (Felis catus). Anim Genet. 2005;36:119-26 pubmed
    ..Because the same mutations were identified in different breeds with similar phenotypes, the mutations are likely to be identical by descent rather than multiple mutation events occurring at the same site...
  20. Fukamachi S, Kinoshita M, Tsujimura T, Shimada A, Oda S, Shima A, et al. Rescue from oculocutaneous albinism type 4 using medaka slc45a2 cDNA driven by its own promoter. Genetics. 2008;178:761-9 pubmed publisher
    Patients and vertebrate mutants with oculocutaneous albinism type 4 (OCA4) have mutations in the solute carrier family 45 member 2 (slc45a2) gene. However, there is no empirical evidence for this gene-phenotype relationship...
  21. Timms C, Thompson D, Russell Eggitt I, Clement R. Saccadic instabilities in albinism without nystagmus. Exp Brain Res. 2006;175:45-9 pubmed
    b>Albinism effects a surprising manipulation of the visual pathway in which some of the normally uncrossed axons of the temporal retina instead cross at the chiasm...
  22. Asuquo M, Agweye P, Ugare G, Ebughe G. Basal cell carcinoma in five albino Africans from the south-eastern equatorial rain forest of Nigeria. Int J Dermatol. 2007;46:754-6 pubmed
    Basal cell carcinoma (BCC) is the most common cutaneous malignancy in the white population and occurs infrequently in dark-pigmented individuals. Albinism is an established risk factor for skin cancer in black Africans.
  23. García Ayuso D, Salinas Navarro M, Agudo Barriuso M, Alarcón Martínez L, Vidal Sanz M, Villegas Pérez M. Retinal ganglion cell axonal compression by retinal vessels in light-induced retinal degeneration. Mol Vis. 2011;17:1716-33 pubmed
    ..To analyze the damage produced by light in mydriatic and miotic albino retinas under two different sources of light...
  24. Anistoroaei R, Fredholm M, Christensen K, Leeb T. Albinism in the American mink (Neovison vison) is associated with a tyrosinase nonsense mutation. Anim Genet. 2008;39:645-8 pubmed publisher
    ..are associated with tyrosinase (TYR) gene mutations; therefore TYR was considered the candidate gene for albinism in mink. Four microsatellite markers were chosen in the predicted region of the TYR gene...
  25. Lopez V, Decatur C, Stamer W, Lynch R, McKay B. L-DOPA is an endogenous ligand for OA1. PLoS Biol. 2008;6:e236 pubmed publisher
    b>Albinism is a genetic defect characterized by a loss of pigmentation. The neurosensory retina, which is not pigmented, exhibits pathologic changes secondary to the loss of pigmentation in the retina pigment epithelium (RPE)...
  26. Pastural E, Barrat F, Dufourcq Lagelouse R, Certain S, Sanal O, Jabado N, et al. Griscelli disease maps to chromosome 15q21 and is associated with mutations in the myosin-Va gene. Nat Genet. 1997;16:289-92 pubmed
    ..Griscelli disease is therefore a human equivalent of dilute expression in the mouse...
  27. Oetting W, King R. Molecular basis of albinism: mutations and polymorphisms of pigmentation genes associated with albinism. Hum Mutat. 1999;13:99-115 pubmed
    b>Albinism, caused by a deficiency of melanin pigment in the skin, hair, and eye (oculocutaneous albinism [OCA]), or primarily in the eye (ocular albinism [OA]), results from mutations in genes involved in the biosynthesis of melanin ..
  28. Ellegren H, Lindgren G, Primmer C, Møller A. Fitness loss and germline mutations in barn swallows breeding in Chernobyl. Nature. 1997;389:593-6 pubmed
    ..Here we report an increased frequency of partial albinism, a morphological aberration associated with a loss of fitness, among barn swallows, Hirundo rustica, breeding ..
  29. Lund P, Gaigher R. A health intervention programme for children with albinism at a special school in South Africa. Health Educ Res. 2002;17:365-72 pubmed
    The genetic condition albinism has a high frequency among the Sotho people of northern South Africa. Affected children have pale hair, eyes and skin-a dramatic contrast to the normal dark pigmentation...
  30. Spritz R, Strunk K, Giebel L, King R. Detection of mutations in the tyrosinase gene in a patient with type IA oculocutaneous albinism. N Engl J Med. 1990;322:1724-8 pubmed
  31. Alarcón Martínez L, Avilés Trigueros M, Galindo Romero C, Valiente Soriano J, Agudo Barriuso M, Villa P, et al. ERG changes in albino and pigmented mice after optic nerve transection. Vision Res. 2010;50:2176-87 pubmed publisher
    ..These changes were maintained up to 12 weeks post-ONT, demonstrating that the ERG-STR is a useful parameter to monitor RGC functionality in adult mice...
  32. Dotta L, Parolini S, Prandini A, Tabellini G, Antolini M, Kingsmore S, et al. Clinical, laboratory and molecular signs of immunodeficiency in patients with partial oculo-cutaneous albinism. Orphanet J Rare Dis. 2013;8:168 pubmed publisher
    Hypopigmentation disorders that are associated with immunodeficiency feature both partial albinism of hair, skin and eyes together with leukocyte defects...
  33. Kaas J. Serendipity and the Siamese cat: the discovery that genes for coat and eye pigment affect the brain. ILAR J. 2005;46:357-63 pubmed
    ..As a result, we have a better understanding of how the brain forms proper connections and of the neural basis of visual problems in albino humans...
  34. Oetting W. Albinism. Curr Opin Pediatr. 1999;11:565-71 pubmed
    b>Albinism was one of the first genetic diseases to be noted in humans, but until relatively recently, little was known of the molecular mechanisms involved in its pathogenesis...
  35. Chiyonobu T, Yoshihara T, Fukushima Y, Yamamoto Y, Tsunamoto K, Nishimura Y, et al. Sister and brother with Vici syndrome: agenesis of the corpus callosum, albinism, and recurrent infections. Am J Med Genet. 2002;109:61-6 pubmed
    A sister and brother with Vici syndrome are described. They both had oculocutaneous albinism, agenesis of the corpus callosum, cataracts, and cardiomyopathy...
  36. Møller A, Bonisoli Alquati A, Mousseau T. High frequency of albinism and tumours in free-living birds around Chernobyl. Mutat Res. 2013;757:52-9 pubmed publisher
    ..of capturing the large numbers of individual specimens that are required to quantify rare events such as albinism and tumour formation...
  37. Suzuki T, Miyamura Y, Matsunaga J, Shimizu H, Kawachi Y, Ohyama N, et al. Six novel P gene mutations and oculocutaneous albinism type 2 frequency in Japanese albino patients. J Invest Dermatol. 2003;120:781-3 pubmed
    Type 2 oculocutaneous albinism (OCA2) is an autosomal recessive disorder that results from mutations in the P gene that codes one of the melanosomal proteins, the function of which remains unknown...
  38. Grønskov K, Dooley C, Østergaard E, Kelsh R, Hansen L, Levesque M, et al. Mutations in c10orf11, a melanocyte-differentiation gene, cause autosomal-recessive albinism. Am J Hum Genet. 2013;92:415-21 pubmed publisher
    Autosomal-recessive albinism is a hypopigmentation disorder with a broad phenotypic range...
  39. Rebsam A, Bhansali P, Mason C. Eye-specific projections of retinogeniculate axons are altered in albino mice. J Neurosci. 2012;32:4821-6 pubmed publisher
    ..In albinism, affected individuals exhibit a lack or reduction of pigmentation in the eye and skin, a concomitant reduced ..
  40. Imes D, Geary L, Grahn R, Lyons L. Albinism in the domestic cat (Felis catus) is associated with a tyrosinase (TYR) mutation. Anim Genet. 2006;37:175-8 pubmed
    ..in other species are associated with tyrosinase (TYR) mutations, TYR was proposed as a candidate gene for albinism in cats...
  41. Rachel R, Dolen G, Hayes N, Lu A, Erskine L, Nowakowski R, et al. Spatiotemporal features of early neuronogenesis differ in wild-type and albino mouse retina. J Neurosci. 2002;22:4249-63 pubmed
    ..These results point to spatiotemporal defects in neuronal production in the albino retina, which could perturb expression of genes that specify cell fate, number, and/or projection phenotype...
  42. Montoliu L, Grønskov K, Wei A, Martinez Garcia M, Fernandez A, Arveiler B, et al. Increasing the complexity: new genes and new types of albinism. Pigment Cell Melanoma Res. 2014;27:11-8 pubmed publisher
    b>Albinism is a rare genetic condition globally characterized by a number of specific deficits in the visual system, resulting in poor vision, in association with a variable hypopigmentation phenotype...
  43. Breimer L, Winder A, Jay B, Jay M. Initiation codon mutation of the tyrosinase gene as a cause of human albinism. Clin Chim Acta. 1994;227:17-22 pubmed
    ..exons of the tyrosinase gene of three British patients suffering from tyrosinase negative oculocutaneous albinism has revealed three new missense point mutations: (1) an adenine to guanine transition at codon 1 changes the ..
  44. Shibahara S, Okinaga S, Tomita Y, Takeda A, Yamamoto H, Sato M, et al. A point mutation in the tyrosinase gene of BALB/c albino mouse causing the cysteine----serine substitution at position 85. Eur J Biochem. 1990;189:455-61 pubmed
    Murine albinism is characterized by complete lack of melanin pigments in skin and retina. In order to study the molecular basis of albinism, we have cloned and characterized the tyrosinase gene of BALB/c mice (c/c)...
  45. Beermann F, Schmid E, Ganss R, Schutz G, Ruppert S. Molecular characterization of the mouse tyrosinase gene: pigment cell-specific expression in transgenic mice. Pigment Cell Res. 1992;5:295-9 pubmed
    ..Our results suggest that sequences in the immediate vicinity of the mouse tyrosinase gene are sufficient to provide cell type-specificity and developmental regulation in melanocytes and the pigment epithelium...
  46. Blaszczyk W, Arning L, Hoffmann K, Epplen J. A Tyrosinase missense mutation causes albinism in the Wistar rat. Pigment Cell Res. 2005;18:144-5 pubmed
    ..In humans mutations in the TYR gene are associated with type 1 oculocutaneous albinism (OCA1) that leads to reduced or absent pigmentation of skin, hair and eye...
  47. Jeffery G. Architecture of the optic chiasm and the mechanisms that sculpt its development. Physiol Rev. 2001;81:1393-414 pubmed
    ..Furthermore, in albinos, where many cells do not exit the cell cycle at normal times, there are systematic chiasmatic abnormalities in ganglion cell projections...
  48. Schraermeyer U, Heimann K. Current understanding on the role of retinal pigment epithelium and its pigmentation. Pigment Cell Res. 1999;12:219-36 pubmed
    ..Most of these functions are not yet understood. Deficit of melanin pigment is associated with age-related macula degeneration, the leading cause of blindness...
  49. Murillo Cuesta S, Contreras J, Zurita E, Cediel R, Cantero M, Varela Nieto I, et al. Melanin precursors prevent premature age-related and noise-induced hearing loss in albino mice. Pigment Cell Melanoma Res. 2010;23:72-83 pubmed publisher
    ..These results demonstrate that melanin precursors, such as L-DOPA, have a protective role in the mammalian cochlea in age-related and noise-induced hearing loss...
  50. Del Campo M, Hall B, Aeby A, Nassogne M, Verloes A, Roche C, et al. Albinism and agenesis of the corpus callosum with profound developmental delay: Vici syndrome, evidence for autosomal recessive inheritance. Am J Med Genet. 1999;85:479-85 pubmed
    We report on two sibs and two other unrelated patients with agenesis of corpus callosum, oculocutaneous albinism, repeated infections, and cardiomyopathy...
  51. Poulter J, Al Araimi M, Conte I, van Genderen M, Sheridan E, Carr I, et al. Recessive mutations in SLC38A8 cause foveal hypoplasia and optic nerve misrouting without albinism. Am J Hum Genet. 2013;93:1143-50 pubmed publisher
    ..and optic nerve misrouting are developmental defects of the visual pathway and only co-occur in connection with albinism; to date, they have only been associated with defects in the melanin-biosynthesis pathway...
  52. Cruz Inigo A, Ladizinski B, Sethi A. Albinism in Africa: stigma, slaughter and awareness campaigns. Dermatol Clin. 2011;29:79-87 pubmed publisher
    Oculocutaneous albinism is an autosomal recessive disorder characterized by a lack of pigment in the hair, skin, and eyes. Albinism is caused by defective or absent tyrosinase, an enzyme necessary for melanogenesis...
  53. Stinchcombe J, Bossi G, Griffiths G. Linking albinism and immunity: the secrets of secretory lysosomes. Science. 2004;305:55-9 pubmed
    ..Melanosomes also use a lysosome-related organelle to secrete melanin for pigmentation. Links between albinism and immunity in patients have uncovered a number of key proteins required for lysosomal secretion and have ..
  54. Amiel J, Watkin P, Tassabehji M, Read A, Winter R. Mutation of the MITF gene in albinism-deafness syndrome (Tietz syndrome). Clin Dysmorphol. 1998;7:17-20 pubmed
    A mother and her son with albinism and sensorineural deafness compatible with Tietz syndrome (MIM 103500) are reported...
  55. Tomita Y. The molecular genetics of albinism and piebaldism. Arch Dermatol. 1994;130:355-8 pubmed
    Oculocutaneous albinism (OCA) is an autosomal-recessive genetic disorder defined by hypomelanosis in the eyes, hair, and skin. Piebaldism is an autosomal-dominant congenital leukoderma associated with a white forelock...
  56. Shiloh Y, Litvak G, Ziv Y, Lehner T, Sandkuyl L, Hildesheimer M, et al. Genetic mapping of X-linked albinism-deafness syndrome (ADFN) to Xq26.3-q27.I. Am J Hum Genet. 1990;47:20-7 pubmed
    X-linked albinism-deafness syndrome (ADFN) was described in one Israeli Jewish family and is characterized by congenital nerve deafness and piebaldness...
  57. Giebel L, Strunk K, King R, Hanifin J, Spritz R. A frequent tyrosinase gene mutation in classic, tyrosinase-negative (type IA) oculocutaneous albinism. Proc Natl Acad Sci U S A. 1990;87:3255-8 pubmed
    ..a tyrosinase gene mutation in several patients with classic, tyrosinase-negative (type IA) oculocutaneous albinism. This mutation, which results in a proline----leucine substitution at codon 81 of the tyrosinase polypeptide (EC ..