Structure of the human palmitoyl-protein thioesterase-2 gene (PPT2) in the major histocompatibility complex on chromosome 6p21.3

Genomics

Volumn 56, Issue 2, 1999, Pages 208-216

  Soyombo, Abigail A ^a   Yi, Won ^a   Hofmann, Sandra L ^a  

^a UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

THIOL ESTER HYDROLASE;

ARTICLE; CHROMOSOME 6P; GENE LOCATION; GENE MUTATION; GENE SEQUENCE; GENETIC POLYMORPHISM; HUMAN; LYSOSOME STORAGE DISEASE; MAJOR HISTOCOMPATIBILITY COMPLEX; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SEQUENCE HOMOLOGY;

STAPHYLOCOCCUS PHAGE 3A;

EID: 0033104803     PISSN: 08887543     EISSN: None     Source Type: Journal    
DOI: 10.1006/geno.1998.5703     Document Type: Article

References (33)

1. Aguado B., Campbell R. D. The novel gene G17, located in the human major histocompatibility complex, encodes PBX2, a homeodomain-containing protein. Genomics. 25:1995;650-659.
2. Aguado B., Campbell R. D. Characterization of a human lysophosphatidic acid acyltransferase that is encoded by a gene located in the class III region of the human major histocompatibility complex. J. Biol. Chem. 273:1998;4096-4105.
3. Ashfield R., Patel A. J., Bossone S. A., Brown H., Campbell R. D., Marcu K. B., Proudfoot N. J. MAZ-dependent termination between closely spaced human complement genes. EMBO J. 13:1994;5656-5667.
4. Berkovic S. F., Carpenter S., Andermann F., Andermann E., Wolfe L. S. Kufs' disease: A critical reappraisal. Brain. 111:1988;27-62.
5. Bossone S. A., Asselin C., Patel A. J., Marcu K. B. MAZ, a zinc finger protein, binds to c-MYC and C2 gene sequences regulating transcriptional initiation and termination. Proc. Natl. Acad. Sci. USA. 89:1992;7452-7456.
6. Camp L. A., Hofmann S. L. Purification and properties of a palmitoyl-protein thioesterase that cleaves palmitate from H-Ras. J. Biol. Chem. 268:1993;22566-22574.
7. Camp L. A., Verkruyse L. A., Afendis S. J., Slaughter C. A., Hofmann S. L. Molecular cloning and expression of palmitoyl-protein thioesterase. J. Biol. Chem. 269:1994;23212-23219.
8. Campbell R. D., Trowsdale J. Map of the human MHC. Immunol. Today. 14:1993;349-352.
9. Das A. K., Becerra C. H. R., Yi W., Lu J.-Y., Siakotos A. N., Wisniewski K. E., Hofmann S. L. Molecular genetics of palmitoyl-protein thioesterase deficiency in the U.S. J. Clin. Invest. 102:1998;361-370.
10. Frohman M. A., Dush M. K., Martin G. R. Rapid production of full-length cDNAs from rare transcripts: Amplification using a single gene-specific oligonucleotide primer. Proc. Natl. Acad. Sci. USA. 85:1988;8998-9002.
11. Haltia M., Tyynelä J., Hirvasniemi A., Syrjäkallio Ylitalo M., Herva R. Mol. Genet. Metab. 1998.
12. Hsieh S.-L., March R. E., Khanna A., Cross S. J., Campbell R. D. Mapping of 10 novel microsatellites in the MHC class III region: Application to the study of autoimmune disease. J. Rheumatol. 24:1997;220-222.
13. Cell. 82:1995;949-957.
14. Jarvela I., Sainio M., Rantamaki T., Olkkonen V. M., Carpen O., Peltonen L., Jalanko A. Biosynthesis and intracellular targeting of the CLN3 protein defective in Batten disease. Hum. Mol. Genet. 7:1998;85-90.
15. Lu J. Y., Verkruyse L. A., Hofmann S. L. Lipid thioesters derived from acylated proteins accumulate in infantile neuronal ceroid lipofuscinosis: Correction of the defect in lymphoblasts by recombinant palmitoyl-protein thioesterase. Proc. Natl. Acad. Sci. USA. 93:1996;10046-10050.
16. Martin J. J. Adult type of neuronal ceroid lipofuscinosis. Dev. Neurosci. 13:1991;331-338.
17. Milner C. M., Campbell R. D. Genes, genes and more genes in the human major histocompatibility complex. BioEssays. 14:1992;565-571.
18. Ohba T., Holt J. A., Billheimer J. T., Strauss J. F. R. Human sterol carrier protein x/sterol carrier protein 2 gene has two promoters. Biochemistry. 34:1995;10660-10668.
19. Orita M., Suzuki Y., Sekiya T., Hayashi K. Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction. Genomics. 5:1989;874-879.
20. Ossendorp B. C., van Heusden G. P., De Beer A. L., Bos K., Schouten G. L., Wirtz K. W. Identification of the cDNA clone which encodes the 58-kDa protein containing the amino acid sequence of rat liver non-specific lipid-transfer protein (sterol-carrier protein 2). Homology wiht rat peroxisomal and mitochondrial 3-oxoacyl-CoA thiolases. Eur. J. Biochem. 201:1991;233-239.
21. Privitera S., Prody C. A., Callahan J. W., Hinek A. The 67-kDa enzymatically inactive alternatively spliced variant of β-galactosidase is identical to the elastin/laminin-binding protein. J. Biol. Chem. 273:1998;6319-6326.
22. Sambrook J., Fritsch E. F., Maniatis T. Molecular Cloning: A Laboratory Manual. 1989;Cold Spring Harbor Laboratory Press, Cold Spring Harbor.
23. Santavuori P. Neuronal ceroid-lipofuscinoses in childhood. Brain Dev. 10:1988;80-83.
24. Santavuori P., Haltia M., Rapola J. Infantile type of so-called neuronal ceroid-lipofuscinosis. Dev. Med. Child Neurol. 16:1974;644-653.
25. Savukoski M., Klockars T., Holmber V., Santavuori P., Lander E. S., Peltonen L. CLN5, a novel gene encoding a putative transmembrane protein mutated in the Finnish variant late infantile neuronal ceroid lipofuscinosis (vLINCL). Nat. Genet. 19:1998;286-288.
26. Schriner J. E., Yi W., Hofmann S. L. cDNA and genomic cloning of human palmitoyl-protein thioesterase (PPT), the enzyme defective in infantile neuronal ceroid lipofuscinosis. Genomics. 34:1996;317-322.
27. Sharp J. D., Wheeler R. B., Lake B. D., Savukoski M., Jarvela I. E., Peltonen L., Gardiner R. M., Williams R. E. Loci for classical and a variant late infantile neuronal ceroid lipofuscinosis map to chromosomes 11p15 and 15q21-23. Hum. Mol. Genet. 6:1997;591-595.
28. Sleat D. E., Donnelly R. J., Lackland H., Liu C. G., Sohar I., Pullarkat R. K., Lobel P. Association of mutations in a lysosomal protein with classical late-infantile neuronal ceroid lipofuscinosis. Science. 277:1997;1802-1805.
29. Soyombo A. A., Hofmann S. L. Molecular cloning and expression of PPT2, a homolog of lysosomal palmitoyl-protein thioesterase with a distinct substrate specificity. J. Biol. Chem. 272:1997;27456-27463.
30. Tahvanainen E., Ranta S., Hirvasniemi A., Karila E., Leisti J., Sistonen P., Weissenbach J., Lehesjoki A. E., de la Chapelle A. The gene for a recessively inherited human childhood progressive epilepsy with mental retardation maps to the distal short arm of chromosome 8. Proc. Natl. Acad. Sci. USA. 91:1994;7267-7270.
31. Verkruyse L. A., Hofmann S. L. Lysosomal targeting of palmitoyl-protein thioesterase. J. Biol. Chem. 271:1996;15831-15836.
32. Vesa J., Hellsten E., Verkruyse L. A., Camp L. A., Rapola J., Santavuori P., Hofmann S. L., Peltonen L. Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis. Nature. 376:1995;584-587.
33. Wheeler R. B., Sharp J. D., Williams R. E., Lake B. D., Gardiner R. M. Mol. Genet. Metab. 1998.