Characterization of a partial pseudogene homologous to the Hermansky-Pudlak syndrome gene HPS-1; Relevance for mutation detection

Human Genetics

Volumn 106, Issue 3, 2000, Pages 370-373

  Huizing, Marjan ^a   Anikster, Yair ^a   Gahl, William A ^a  

^a EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA;

ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CHROMOSOME 10Q; CHROMOSOME 22Q; CONTAMINATION; CONTROLLED STUDY; DATA BASE; EXON; GENE AMPLIFICATION; GENE LOCATION; GENE MAPPING; GENE MUTATION; GENETIC SCREENING; HUMAN; HUMAN TISSUE; INTRON; LIPOFUSCINOSIS; NUCLEOTIDE SEQUENCE; OCULAR ALBINISM; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PSEUDOGENE; SEQUENCE HOMOLOGY; THROMBOCYTE DISORDER;

ALBINISM, OCULOCUTANEOUS; CHROMOSOMES, HUMAN, PAIR 10; CHROMOSOMES, HUMAN, PAIR 22; DATABASES, FACTUAL; EXONS; GENETIC SCREENING; HUMANS; MEMBRANE PROTEINS; MOLECULAR SEQUENCE DATA; MUTATION; POLYMERASE CHAIN REACTION; PSEUDOGENES; SEQUENCE HOMOLOGY, NUCLEIC ACID;

EID: 0034030851     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390051053     Document Type: Article

References (17)

1. Altschul SF, Gish W, Miller W, Myers EW, Lipman DJ (1990) Basic local alignment search tool. J Mol Biol 215:403-410
2. Altschul SF, Madden TL, Schaffer AA, Zhang J, Zhang Z, Miller W, Lipman DJ (1997) Gapped BLAST and PSI-BLAST: a new generation of protein database search programs. Nucleic Acids Res 25:3389-3402
3. Bailin T, Oh J, Feng GH, Fukai K. Spritz RA (1997) Organization and nucleotide sequence of the Hermansky-Pudlak syndrome (HPS) gene. J Invest Dermatol 108:923-927
4. Fukai K, Oh J, Frenk E, Almodovar C. Spritz RA (1995) Linkage disequilibrium mapping of the gene for Hermansky-Pudlak syndrome to chromosome 10q23.1-23.3. Hum Mol Genet 4:1665-1669
5. Gahl WA, Brantly M, Kaiser-Kupfer MI, Iwata F, Hazelwood S, Shotelersuk V, Duffy LF, Kuehl EM, Troendle J, Bernardini I (1998) Genetic defects and clinical characteristics of patients with a form of oculocutaneous albinism (Hermansky-Pudlak syndrome). N Engl J Med 338:1258-1264
6. Hermansky F, Pudlak P (1959) Albinism associated with hemorrhagic diathesis and unusual pigmented reticular cells in the bone marrow: report of two cases with histochemical studies. Blood 14:162-169
7. Hernandez JM, Hernandez CS, Giner CP, Donat V, Hernandez-Yago J (1999) Identification of ψ3Tom20, a novel processed pseudogene of the human Tom20 gene, and complete characterization of ψ1Tom20 and ψ2Tom20. Mol Gen Genet 262:207-211
8. King RA, Hearing VJ, Creel DJ, Oetting WS (1995) In: Scriver CR, Beaudet AL, Sly WS, Valle DL (eds) The metabolic and molecular bases of inherited disease, vol 3, 7th edn. McGraw-Hill, New York, pp 4353-4392
9. Leadon SA, Snowden MM (1988) Differential repair of DNA damage in the human metallothionein gene family. Mol Cell Biol 8:5331-5338
10. Oetting WS, King RA (1999) Molecular basis of albinism: mutations and polymorphisms of pigmentation genes associated with albinism. Hum Mutat 13:99-115
11. Oh J, Bailin T, Fukai K, Feng GH, Ho L, Mao J-i, Frenk E, Tamura N, Spritz RA (1996) Positional cloning of a gene for Hermansky-Pudlak syndrome, a disorder of cytoplasmic organelles. Nat Genet 14:300-306
12. Oh J, Ho L, Ala-Mello S, Amato D, Armstrong L, Bellucci S, Carakushansky G, Ellis JP, Fong C-T, Green JS, Heon E, Legius E, Levin AV, Nieuwenhuis HK, Pinckers A, Tamura N, Whiteford ML, Yamasaki H, Spritz RA (1998) Mutation analysis of patients with Hermansky-Pudlak syndrome: a frameshift hot spot in the HPS gene and apparent locus heterogeneity. Am J Hum Genet 62:593-598
13. Shotelersuk V, Gahl W (1998) Hermansky-Pudlak syndrome: models for intracellular vesicle formation. Mol Genet Metab 15:85-96
14. Shotelersuk V, Hazelwood S, Larson D, Iwata F, Kaiser-Kupfer MI, Kuehl E, Bernardini I, Gahl WA (1998) Three new mutations in a gene causing Hermansky-Pudlak syndrome: clinical correlations. Mol Genet Metab 64:99-107
15. Wildenberg SC, Oetting WS, Almodovar C, Krumwiede M, White JG, King RA (1995) A gene causing Hermansky-Pudlak syndrome in a Puerto Rican population maps to chromosome 10q2. Am J Hum Genet 57:755-765
16. Wildenberg SC, Fryer JP, Gardner JM, Oetting WS, Brilliant MH, King RA (1998) Identification of a novel transcript produced by the gene responsible for the Hermansky-Pudlak syndrome in Puerto Rico. J Invest Dermatol 110:777-781
17. Witkop CJ, Babcock MN, Rao GHR, Gaudier F, Summers CG, Shanahan F, Harmon KR, Townsend DW, Sedano HO, King RA, Cal SX, White JG (1990) Albinism and Hermansky-Pudlak syndrome in Puerto Rico. Bol Asoc Med P R Agosto 82:333-339