Richard Spritz

Summary

Affiliation: University of Colorado Health Sciences Center
Country: USA

Publications

  1. ncbi request reprint Multi-organellar disorders of pigmentation: intracellular traffic jams in mammals, flies and yeast
    R A Spritz
    Human Medical Genetics Program, University of Colorado Health Sciences Center, 4200 East Ninth Avenue, B161, Denver, CO 80262, USA
    Trends Genet 15:337-40. 1999
  2. pmc Variant of TYR and autoimmunity susceptibility loci in generalized vitiligo
    Ying Jin
    Human Medical Genetics Program, School of Medicine, University of Colorado, P O Box 6511, Mailstop 8300, Aurora, CO 80045, USA
    N Engl J Med 362:1686-97. 2010
  3. pmc Leveraging existing biological knowledge in the identification of candidate genes for facial dysmorphology
    Hannah J Tipney
    Computational Pharmacology Department, University of Colorado at Denver and Health Sciences Center, Aurora, CO, USA
    BMC Bioinformatics 10:S12. 2009
  4. doi request reprint The genetics of generalized vitiligo
    Richard A Spritz
    Human Medical Genetics Program, University of Colorado Denver, Anschutz Medical Campus, Aurora, CO 80045, USA
    Curr Dir Autoimmun 10:244-57. 2008
  5. ncbi request reprint The genetics of generalized vitiligo and associated autoimmune diseases
    Richard A Spritz
    Human Medical Genetics Program, University of Colorado at Denver and Health Sciences Center, PO Box 6511, Mail Stop 8300, Aurora, CO 80045, USA
    Pigment Cell Res 20:271-8. 2007
  6. ncbi request reprint Distribution of orofacial clefts and frequent occurrence of an unusual cleft variant in the Rift Valley of Kenya
    Richard A Spritz
    Human Medical Genetics Program, University of Colorado at Denver and Health Sciences Center, Aurora 80045, USA
    Cleft Palate Craniofac J 44:374-7. 2007
  7. ncbi request reprint "Out, damned spot!"
    Richard A Spritz
    Human Medical Genetics Program, University of Colorado Health Sciences Center, Mail Stop 8300, PO Box 6511, Aurora, CO 80045, USA
    J Invest Dermatol 126:949-51. 2006
  8. ncbi request reprint The genetics of generalized vitiligo and associated autoimmune diseases
    Richard A Spritz
    Human Medical Genetics Program, University of Colorado Health Sciences Center, P O Box 6511, Mail Stop 8300, Aurora, 80045, USA
    J Dermatol Sci 41:3-10. 2006
  9. ncbi request reprint Human and mouse disorders of pigmentation
    Richard A Spritz
    Human Medical Genetics Program, University of Colorado Health Sciences Center, 4200 E Ninth Ave, B161, Denver, Colorado 80262, USA
    Curr Opin Genet Dev 13:284-9. 2003
  10. ncbi request reprint Epidemiology of vitiligo and associated autoimmune diseases in Caucasian probands and their families
    Asem Alkhateeb
    Human Medical Genetics Program, University of Colorado Health Sciences Center, Denver, CO, USA
    Pigment Cell Res 16:208-14. 2003

Collaborators

Detail Information

Publications40

  1. ncbi request reprint Multi-organellar disorders of pigmentation: intracellular traffic jams in mammals, flies and yeast
    R A Spritz
    Human Medical Genetics Program, University of Colorado Health Sciences Center, 4200 East Ninth Avenue, B161, Denver, CO 80262, USA
    Trends Genet 15:337-40. 1999
    ..Recent discoveries show that several of these mutations directly affect components in the pathway of organelle-specific protein trafficking, and provide new insights into the relationships of these pathways in mammals, flies and yeast...
  2. pmc Variant of TYR and autoimmunity susceptibility loci in generalized vitiligo
    Ying Jin
    Human Medical Genetics Program, School of Medicine, University of Colorado, P O Box 6511, Mailstop 8300, Aurora, CO 80045, USA
    N Engl J Med 362:1686-97. 2010
    ..Generalized vitiligo is an autoimmune disease characterized by melanocyte loss, which results in patchy depigmentation of skin and hair, and is associated with an elevated risk of other autoimmune diseases...
  3. pmc Leveraging existing biological knowledge in the identification of candidate genes for facial dysmorphology
    Hannah J Tipney
    Computational Pharmacology Department, University of Colorado at Denver and Health Sciences Center, Aurora, CO, USA
    BMC Bioinformatics 10:S12. 2009
    ..In contrast to unstructured gene lists, these networks often represent coherent functional groupings...
  4. doi request reprint The genetics of generalized vitiligo
    Richard A Spritz
    Human Medical Genetics Program, University of Colorado Denver, Anschutz Medical Campus, Aurora, CO 80045, USA
    Curr Dir Autoimmun 10:244-57. 2008
    ....
  5. ncbi request reprint The genetics of generalized vitiligo and associated autoimmune diseases
    Richard A Spritz
    Human Medical Genetics Program, University of Colorado at Denver and Health Sciences Center, PO Box 6511, Mail Stop 8300, Aurora, CO 80045, USA
    Pigment Cell Res 20:271-8. 2007
    ..It is anticipated that the discovery of biological pathways of vitiligo pathogenesis will provide novel targets for future approaches to the treatment and prevention of vitiligo and its associated autoimmune diseases...
  6. ncbi request reprint Distribution of orofacial clefts and frequent occurrence of an unusual cleft variant in the Rift Valley of Kenya
    Richard A Spritz
    Human Medical Genetics Program, University of Colorado at Denver and Health Sciences Center, Aurora 80045, USA
    Cleft Palate Craniofac J 44:374-7. 2007
    ..To investigate the pattern and distribution of nonsyndromic orofacial clefts among patients in the Rift Valley region of northwestern Kenya...
  7. ncbi request reprint "Out, damned spot!"
    Richard A Spritz
    Human Medical Genetics Program, University of Colorado Health Sciences Center, Mail Stop 8300, PO Box 6511, Aurora, CO 80045, USA
    J Invest Dermatol 126:949-51. 2006
    ....
  8. ncbi request reprint The genetics of generalized vitiligo and associated autoimmune diseases
    Richard A Spritz
    Human Medical Genetics Program, University of Colorado Health Sciences Center, P O Box 6511, Mail Stop 8300, Aurora, 80045, USA
    J Dermatol Sci 41:3-10. 2006
    ....
  9. ncbi request reprint Human and mouse disorders of pigmentation
    Richard A Spritz
    Human Medical Genetics Program, University of Colorado Health Sciences Center, 4200 E Ninth Ave, B161, Denver, Colorado 80262, USA
    Curr Opin Genet Dev 13:284-9. 2003
    ..Our understanding of disorders of pigmentation indicates that these diseases may be most usefully considered as abnormalities of melanocyte development, function, or survival...
  10. ncbi request reprint Epidemiology of vitiligo and associated autoimmune diseases in Caucasian probands and their families
    Asem Alkhateeb
    Human Medical Genetics Program, University of Colorado Health Sciences Center, Denver, CO, USA
    Pigment Cell Res 16:208-14. 2003
    ..These results suggest that genomic analysis of families with generalized vitiligo and this specific constellation of associated autoimmune disorders will be important to identify the mechanisms of genetic susceptibility to autoimmunity...
  11. ncbi request reprint Hermansky-Pudlak syndrome and pale ear: melanosome-making for the millennium
    R A Spritz
    Human Medical Genetics Program, University of Colorado Health Sciences Center, Denver 80262, USA
    Pigment Cell Res 13:15-20. 2000
    ....
  12. ncbi request reprint A Romanian population isolate with high frequency of vitiligo and associated autoimmune diseases
    Stanca A Birlea
    FACMG, Human Medical Genetics Program, University of Colorado at Denver and Health Sciences Center, PO Box 6511, Mail Stop 8300, Aurora, CO 80045, USA
    Arch Dermatol 144:310-6. 2008
    ..To characterize the epidemiology and genetics of vitiligo and associated autoimmune diseases in a population isolate in Romania in which there is a high frequency of these diseases...
  13. ncbi request reprint Piebaldism and neurofibromatosis type 1: horses of very different colors
    Richard A Spritz
    Human Medical Genetics Program and Department of Pediatrics, University of Colorado Health Sciences Center, Denver, Colorado 80262, USA
    J Invest Dermatol 122:xxxiv-xxxv. 2004
  14. pmc CTLA4 and generalized vitiligo: two genetic association studies and a meta-analysis of published data
    Stanca A Birlea
    Human Medical Genetics Program, University of Colorado, Denver, Colorado, USA
    Pigment Cell Melanoma Res 22:230-4. 2009
    ..Our results indicate that the association of CTLA4 with vitiligo is weak, and indeed may be secondary, driven by primary genetic association of CTLA4 with other autoimmune diseases that are epidemiologically associated with vitiligo...
  15. pmc Shared genetic relationships underlying generalized vitiligo and autoimmune thyroid disease
    Richard A Spritz
    Human Medical Genetics Program, University of Colorado School of Medicine, Aurora, Colorado 80113, USA
    Thyroid 20:745-54. 2010
    ....
  16. ncbi request reprint Early disease onset and increased risk of other autoimmune diseases in familial generalized vitiligo
    Greggory Laberge
    Human Medical Genetics Program, University of Colorado Health Sciences Center, Denver, CO, USA
    Pigment Cell Res 18:300-5. 2005
    ..These findings have important implications for autoimmune disease surveillance in families in which multiple members are affected with vitiligo...
  17. pmc Fine-mapping of vitiligo susceptibility loci on chromosomes 7 and 9 and interactions with NLRP1 (NALP1)
    Ying Jin
    Human Medical Genetics Program, University of Colorado Denver, Anschutz Medical Campus, Aurora, Colorado 80045, USA
    J Invest Dermatol 130:774-83. 2010
    ..These support the validity of the chromosomes 7 and 9 linkage/association signals and underscore the utility of gene-gene interaction analysis in characterizing the genetic effects of candidate association signals...
  18. doi request reprint The PTPN22-1858C>T (R620W) functional polymorphism is associated with generalized vitiligo in the Romanian population
    Greggory S Laberge
    Human Medical Genetics Program, University of Colorado Denver, Anschutz Medical Campus, Aurora, CO, USA
    Pigment Cell Melanoma Res 21:206-8. 2008
    ....
  19. pmc Common variants in FOXP1 are associated with generalized vitiligo
    Ying Jin
    Human Medical Genetics Program, Department of Pediatrics, University of Colorado School of Medicine, Aurora, Colorado, USA
    Nat Genet 42:576-8. 2010
    ..04x10(-8)) and with variants at 6q27 encompassing CCR6 (rs6902119, combined P=3.94x10(-7))...
  20. pmc A genomewide screen for generalized vitiligo: confirmation of AIS1 on chromosome 1p31 and evidence for additional susceptibility loci
    Pamela R Fain
    Human Medical Genetics Program and Department of Medicine, University of Colorado Health Sciences Center, Denver, CO 80262, USA
    Am J Hum Genet 72:1560-4. 2003
    ..An additional seven signals, on chromosomes 1, 7, 8, 11, 19, and 22, met genomewide criteria for "suggestive linkage," and will thus be of particular importance for follow-up studies...
  21. ncbi request reprint NALP1 in vitiligo-associated multiple autoimmune disease
    Ying Jin
    Human Medical Genetics Program, University of Colorado at Denver and Health Sciences Center, Aurora, CO 80045, USA
    N Engl J Med 356:1216-25. 2007
    ..The group includes various combinations of generalized vitiligo, autoimmune thyroid disease, latent autoimmune diabetes in adults, rheumatoid arthritis, psoriasis, pernicious anemia, systemic lupus erythematosus, and Addison's disease...
  22. ncbi request reprint HLA class II haplotype DRB1*04-DQB1*0301 contributes to risk of familial generalized vitiligo and early disease onset
    Pamela R Fain
    Human Medical Genetics Program, University of Colorado at Denver and Health Sciences Center, Aurora, USA
    Pigment Cell Res 19:51-7. 2006
    ..Overall, our results indicate that specific MHC-linked genetic variation contributes to risk of familial vitiligo, although HLA does not completely explain familial clustering of vitiligo-associated autoimmune/autoinflammatory diseases...
  23. ncbi request reprint Mapping of an autoimmunity susceptibility locus (AIS1) to chromosome 1p31.3-p32.2
    Asem Alkhateeb
    Human Medical Genetics Program, Department of Medicine, University of Colorado Health Sciences Center, 4200 East Ninth Ave, B161, Denver, CO 80262, USA
    Hum Mol Genet 11:661-7. 2002
    ....
  24. pmc Comprehensive analysis of oculocutaneous albinism among non-Hispanic caucasians shows that OCA1 is the most prevalent OCA type
    Saunie M Hutton
    Human Medical Genetics Program, University of Colorado Denver, Anshutz Medical Campus, Aurora, Colorado 80045, USA
    J Invest Dermatol 128:2442-50. 2008
    ..This study demonstrates that, contrary to long-held clinical lore, OCA1, not OCA2, is by far the most frequent cause of OCA among Caucasian patients...
  25. pmc Genome-wide association study of generalized vitiligo in an isolated European founder population identifies SMOC2, in close proximity to IDDM8
    Stanca A Birlea
    Human Medical Genetics Program, Department of Dermatology, University of Colorado Denver, Aurora, Colorado 80045, USA
    J Invest Dermatol 130:798-803. 2010
    ..00. SMOC2 encodes a modular extracellular calcium-binding glycoprotein of unknown function. Our findings indicate that SMOC2 is a risk locus for generalized vitiligo and perhaps other autoimmune diseases...
  26. doi request reprint PTPN22 is genetically associated with risk of generalized vitiligo, but CTLA4 is not
    Greggory S Laberge
    Human Medical Genetics Program, University of Colorado Denver, Anschutz Medical Campus, Aurora, Colorado 80045, USA
    J Invest Dermatol 128:1757-62. 2008
    ..These results implicate PTPN22 in mediating susceptibility to generalized vitiligo and associated autoimmune diseases, but do not support a role for CTLA4...
  27. ncbi request reprint Genetic variations in NALP1 are associated with generalized vitiligo in a Romanian population
    Ying Jin
    Human Medical Genetics Program, University of Colorado at Denver and Health Sciences Center, Aurora, Colorado 80045, USA
    J Invest Dermatol 127:2558-62. 2007
    ..20 compared with individuals carrying a high-risk allele from only one signal. These findings support the involvement of NALP1 in predisposition to generalized vitiligo...
  28. doi request reprint A comprehensive genetic study of autosomal recessive ocular albinism in Caucasian patients
    Saunie M Hutton
    Human Medical Genetics Program, University of Colorado Denver, Anshutz Medical Campus, Aurora, Colorado 80045, USA
    Invest Ophthalmol Vis Sci 49:868-72. 2008
    ..The purpose of this study was to characterize the relative prevalence of different genetic forms of AROA, and to characterize a sample repertoire of gene mutations in a large series of Caucasian patients with AROA...
  29. ncbi request reprint The Hermansky-Pudlak syndrome 1 (HPS1) and HPS4 proteins are components of two complexes, BLOC-3 and BLOC-4, involved in the biogenesis of lysosome-related organelles
    Pei Wen Chiang
    Human Medical Genetics Program, University of Colorado Health Sciences Center, Denver 80262, USA
    J Biol Chem 278:20332-7. 2003
    ..In the cytosol, HPS1 (but not HPS4) is part of yet another complex, termed BLOC-5. We propose that the BLOC-3 and BLOC-4 HPS1.HPS4 complexes play a central role in trafficking cargo proteins to newly formed cytoplasmic organelles...
  30. ncbi request reprint Vitiligo-associated multiple autoimmune disease is not associated with genetic variation in AIRE
    Ying Jin
    Pigment Cell Res 20:402-4. 2007
  31. pmc Novel vitiligo susceptibility loci on chromosomes 7 (AIS2) and 8 (AIS3), confirmation of SLEV1 on chromosome 17, and their roles in an autoimmune diathesis
    Richard A Spritz
    Am J Hum Genet 74:188-91. 2004
  32. ncbi request reprint Deletion of the SLUG (SNAI2) gene results in human piebaldism
    Manuel Sanchez-Martin
    Instituto de Biología Molecular y Celular del Cáncer IBMCC, Centro de Investigacion del Cancer, CSIC Universidad de Salamanca, Salamanca, Spain
    Am J Med Genet A 122:125-32. 2003
    ..These findings indicate that some cases of human piebaldism result from mutation of the SLUG gene on chromosome 8, and provide further strong evidence for the role of SLUG in the development of human melanocytes...
  33. pmc Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1)
    Wei Li
    Department of Molecular and Cellular Biology, Roswell Park Cancer Institute, Buffalo, New York 14263, USA
    Nat Genet 35:84-9. 2003
    ....
  34. pmc Slc7a11 gene controls production of pheomelanin pigment and proliferation of cultured cells
    Sreenivasulu Chintala
    Department of Molecular and Cellular Biology, Roswell Park Cancer Institute, Elm and Carlton Streets, Buffalo, NY 14263, USA
    Proc Natl Acad Sci U S A 102:10964-9. 2005
    ..Thus, we have found that the Slc7a11 gene controls the production of pheomelanin pigment directly. Cells from sut mice provide a model for oxidative stress-related diseases and their therapies...
  35. ncbi request reprint Candidate functional promoter variant in the FOXD3 melanoblast developmental regulator gene in autosomal dominant vitiligo
    Asem Alkhateeb
    J Invest Dermatol 125:388-91. 2005
  36. ncbi request reprint Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene
    Tamio Suzuki
    Human Medical Genetics Program, University of Colorado Health Sciences Center, Denver, Colorado 80262, USA
    Nat Genet 30:321-4. 2002
    ..In addition, the HPS1 protein is absent in tissues of le mutant mice. These results suggest that the HPS4 and HPS1 proteins may function in the same pathway of organelle biogenesis...
  37. ncbi request reprint High frequency of Hermansky-Pudlak syndrome type 1 (HPS1) among Japanese albinism patients and functional analysis of HPS1 mutant protein
    Shiro Ito
    Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Japan
    J Invest Dermatol 125:715-20. 2005
    ....
  38. pmc The mouse organellar biogenesis mutant buff results from a mutation in Vps33a, a homologue of yeast vps33 and Drosophila carnation
    Tamio Suzuki
    Human Medical Genetics Program, University of Colorado Health Sciences Center, Denver, CO 80262, USA
    Proc Natl Acad Sci U S A 100:1146-50. 2003
    ..VPS33A thus is a good candidate gene for a previously uncharacterized form of human HPS...
  39. ncbi request reprint Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky-Pudlak syndrome types 5 and 6
    Qing Zhang
    Department of Molecular and Cellular Biology, Roswell Park Cancer Institute, Buffalo, New York 14263, USA
    Nat Genet 33:145-53. 2003
    ..Both genes are previously unknown and are found only in higher eukaryotes, and together represent a new class of genes that have evolved in higher organisms to govern the synthesis of highly specialized lysosome-related organelles...
  40. pmc The Slc35d3 gene, encoding an orphan nucleotide sugar transporter, regulates platelet-dense granules
    Sreenivasulu Chintala
    Department of Molecular and Cellular Biology, Roswell Park Cancer Institute, Buffalo, NY 14263, USA
    Blood 109:1533-40. 2007
    ..Unlike HPS or CHS genes, it has no apparent effect on other lysosome-related organelles such as melanosomes or lysosomes. The ash-Roswell mouse mutant is an appropriate model for human congenital-isolated delta-storage pool deficiency...

Research Grants33

  1. STUDIES OF HUMAN PIGMENTATION DISORDERS
    Richard Spritz; Fiscal Year: 2005
    ....
  2. GENE DISCOVERY FOR CRANIOFACIAL DISORDERS
    Richard Spritz; Fiscal Year: 2006
    ..We will apply state-of-art bioinformatics tools to analyze and interpret the data, all of which we will deposit in appropriate public data repositories. ..
  3. Missing Mutations in Oculocutaneous and Ocular Albinism
    Richard Spritz; Fiscal Year: 2006
    ..Together, these studies should provide a greatly improved understanding of the molecular pathogenesis of oculocutaneous and ocular albinism. ..
  4. MAPPING OF VITILIGO SUSCEPTIBILITY GENES
    Richard Spritz; Fiscal Year: 2007
    ..The long-term significance of this work may be to develop specific approaches to disease therapy and prevention and to apply those modalities to patients at high genetic risk. ..
  5. GENE DISCOVERY FOR CRANIOFACIAL DISORDERS
    Richard Spritz; Fiscal Year: 2007
    ..We will apply state-of-art bioinformatics tools to analyze and interpret the data, ali of which we will deposit in appropriate public data repositories. ..
  6. Mapping and Functional Analysis of Vitiligo Susceptibility Genes
    Richard Spritz; Fiscal Year: 2009
    ....
  7. VitGene International Consortium to Identify Susceptibility Genes for Generalized
    Richard Spritz; Fiscal Year: 2009
    ..The long-term goal of these studies is improve understanding of disease pathogenesis to facilitate developing novel treatments for vitiligo and perhaps other autoimmune diseases. ..
  8. VitGene International Consortium to Identify Susceptibility Genes for Generalized
    Richard A Spritz; Fiscal Year: 2010
    ....
  9. GENETIC STUDIES OF HUMAN PIGMENTATION DISORDERS
    Richard Spritz; Fiscal Year: 2000
    ..The third specific aim is to map and positionally clone a novel major human OCA locus, and to carry out eventual mutational and functional analyses of this gene and its polypeptide. ..
  10. GENETIC STUDIES OF MARGARITA ISLAND ECTODERMAL DYSPLASIA
    Richard Spritz; Fiscal Year: 2002
    ..The last aim is to initiate studies to determine the function of the ED4 gene. ..
  11. MAPPING OF VITILIGO SUSCEPTIBILITY GENES
    Richard Spritz; Fiscal Year: 2002
    ..abstract_text> ..
  12. Mapping and Functional Analysis of Vitiligo Susceptibility Genes
    Richard A Spritz; Fiscal Year: 2010
    ....