Mutations in PIP5K3 are associated with François-Neetens mouchetée fleck corneal dystrophy

American Journal of Human Genetics

Volumn 77, Issue 1, 2005, Pages 54-63

  Li, Shouling ^a   Tiab, Leila ^b   Jiao, Xiaodong ^a   Munier, Francis L ^c   Zografos, Leonidas ^c   Frueh, Béatrice E ^d   Sergeev, Yuri ^a   Smith, Janine ^a   Rubin, Benjamin ^a   Meallet, Mario A ^e   Forster, Richard K ^f   Hejtmancik, J Fielding ^a   Schorderet, Daniel F ^b,c  

^a NATIONAL EYE INSTITUTE   (United States)

^b Institut de Recherche en Ophtalmologie   (Switzerland)

^c JULES GONIN EYE HOSPITAL   (Switzerland)

^d UNIVERSITY OF BERN   (Switzerland)

^e DOHENY EYE INSTITUTE   (United States)

^f UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

PHOSPHATIDYLINOSITOL 3 KINASE; PROTEIN PIP5K3; UNCLASSIFIED DRUG;

ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHROMOSOME 2Q; CLINICAL FEATURE; CONTROLLED STUDY; CORNEA DYSTROPHY; ENDOSOME; FRAMESHIFT MUTATION; FRANCOIS NEETENS MOUCHETEE FLECK CORNEAL DYSTROPHY; GENE; GENE LOCATION; GENE MUTATION; GENETIC ASSOCIATION; GENETIC LINKAGE; HUMAN; HUMAN CELL; LYSOSOME; MAJOR CLINICAL STUDY; MISSENSE MUTATION; MORPHOGENESIS; MULTIGENE FAMILY; NUCLEOTIDE SEQUENCE; PIP5K3 GENE; PRIORITY JOURNAL; RARE DISEASE; SEQUENCE ANALYSIS;

EID: 20544452085     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/431346     Document Type: Article

References (26)

1. Abola E, Bernstein FC, Bryant SH, Koetzle TF, Weng J (1987) Protein data bank. In: Allen FH, Bergerhoff G, Sievers R (eds) Crystallographic databases-information content, software systems, scientific applications. Data Comission of the International Union of Crystallography, Cambridge, United Kingdom, pp 107-132
2. Akova YA, Unlu N, Duman S (1994) Fleck dystrophy of the cornea: a report of cases from three generations of a family. Eur J Ophthalmol 4:123-125
3. Birndorf LA, Ginsberg SP (1972) Hereditary fleck dystrophy associated with decreased corneal sensitivity. Am J Ophthalmol 73:670-672
4. Cottingham RW, Idury RM, Schaffer AA (1993) Faster sequential genetic linkage computations. Am J Hum Genet 53: 252-263
5. Ditzel L, Lowe J, Stock D, Stetter KO, Huber H, Huber R, Steinbacher S (1998) Crystal structure of the thermosome, the archaeal chaperonin and homolog of CCT. Cell 93:125-138
6. François J, Neetens A (1957) Nouvelle dystrophie hérédofamiliale du parenchyme corneen (hérédo- dystrophie mouchetée). Bull Soc Belge Ophtalmol 114:641-646
7. Frueh BE, Bohnke M (1999) In vivo confocal microscopy of fleck dystrophy. Cornea 18:658-660
8. Goldberg MF, Krimmer B, Sugar J, Sewell J, Wong P (1977) Variable expression in flecked (speckled) dystrophy of the cornea. Ann Ophthalmol 9:889-896
9. Ikonomov OC, Sbrissa D, Foti M, Carpentier JL, Shisheva A (2003a) PIKfyve controls fluid phase endocytosis but not recycling/degradation of endocytosed receptors or sorting of procathepsin D by regulating multivesicular body morphogenesis. Mol Biol Cell 14:4581-4591
10. Ikonomov OC, Sbrissa D, Mlak K, Deeb R, Fligger J, Soans A, Finley RL Jr, Shisheva A (2003b) Active PIKfyve associates with and promotes the membrane attachment of the late endosome-to-trans-Golgi network transport factor Rab9 effector p40. J Biol Chem 278:50863-50871
11. Ikonomov OC, Sbrissa D, Shisheva A (2001) Mammalian cell morphology and endocytic membrane homeostasis require enzymatically active phosphoinositide 5-kinase PIKfyve. J Biol Chem 276:26141-26147
12. Jiao X, Munier FL, Schorderet DF, Zografos L, Smith J, Rubin B, Hejtmancik JF (2003) Genetic linkage of Francois-Neetens fleck (mouchetée) corneal dystrophy to chromosome 2q35. Hum Genet 112:593-599
13. Laskowski RA, MacArthur MW, Moss DS, Thornton JM (1993) PROCHECK: a program to check the stereochemical quality of protein structures. J Appl Cryst 26:283-291
14. Lathrop GM, Lalouel JM (1984) Easy calculations of lod scores and genetic risks on small computers. Am J Hum Genet 36:460-465
15. Lee C (1994) Predicting protein mutant energetics by self-consistent ensemble optimization. J Mol Biol 236:918-939
16. Lee C, Subbiah S (1991) Prediction of protein side-chain conformation by packing optimization. J Mol Biol 217:373-388
17. Needleman SB, Wunsch CD (1970) A general method applicable to the search for similarities in the amino acid sequence of two proteins. J Mol Biol 48:443-453
18. Nicholson DH, Green WR, Cross HE, Kenyon KR, Massof D (1977) A clinical and histopathological study of Francois-Neetens speckled corneal dystrophy. Am J Ophthalmol 83: 554-560
19. Patten JT, Hyndiuk RA, Donaldson DD, Herman SJ, Ostler HB (1976) Fleck (mouchetee) dystrophy of the cornea. Ann Ophthalmol 8:25-32
20. Purcell JJ Jr, Krachmer JH, Weingeist TA (1977) Fleck corneal dystrophy. Arch Ophthalmol 95:440-444
21. β phosphatidylinositol phosphate kinase: a protein kinase fold flattened for interfacial phosphorylation. Cell 94:829-839
22. Sbrissa D, Ikonomov OC, Shisheva A (2000) PIKfyve lipid kinase is a protein kinase: downregulation of 5′-phosphoinositide product formation by autophosphorylation. Biochemistry 39:15980-15989
23. Schaffer AA, Gupta SK, Shriram K, Cottingham RW (1994) Avoiding recomputation in genetic linkage analysis. Hum Hered 44:225-237
24. Shisheva A, Rusin B, Ikonomov OC, DeMarco C, Sbrissa D (2001) Localization and insulin-regulated relocation of phosphoinositide 5-kinase PIKfyve in 3T3-L1 adipocytes. J Biol Chem 276:11859-11869
25. Smith RJH, Holcomb JD, Daiger SP, Caskey CT, Pelias MZ, Alford BR, Fontenot DD, Hejtmancik JF (1989) Exclusion of Usher syndrome gene from much of chromosome 4. Cytogenet Cell Genet 50:102-106
26. Streeten BW, Falls HF (1961) Hereditary fleck dystrophy of the cornea. Am J Ophthalmol 51:275-281