Circadian rhythm abnormalities of melatonin in Smith-Magenis syndrome

Journal of Medical Genetics

Volumn 37, Issue 6, 2000, Pages 428-433

  Potocki, Lorraine ^a   Glaze, Daniel ^b   Tan, Dun Xian ^c   Park, Sung Sup ^a   Kashork, Catherine D ^a   Shaffer, Lisa G ^a   Reiter, Russel J ^c   Lupski, James R ^a,b  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b TEXAS CHILDREN S HOSPITAL   (United States)

^c Mays Cancer Center at UT Health San Antonio   (United States)

Author keywords

Circadian rhythm; COPS3; Melatonin; Smith Magenis syndrome

Indexed keywords

MELATONIN; MELATONIN DERIVATIVE;

ADOLESCENT; ADULT; ARTICLE; CHILD; CIRCADIAN RHYTHM; CLINICAL ARTICLE; EXON; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; HUMAN; MALE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SLEEP DISORDER; SMITH MAGENIS SYNDROME; URINARY EXCRETION;

EID: 0034042539     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.37.6.428     Document Type: Article

References (34)

1. Schmickel RD. Contiguous gene syndromes: a component of recognizable syndromes. J Pediatr 1986;109:231-41.
2. Chen K-S, Manian P, Koeuth T, Potocki L, Zhao Q, Chinault AC, Lee C-C, Lupski JR. Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome, Nat Genet 1997;17:154-63.
3. Juyal RC, Figuera LE, Hauge X, Elsea SH, Lupski JR, Greenberg F, Baldini A, Patel PI. Molecular analyses of 17p11.2 deletions in 62 Smith-Magenis syndrome patients, Am J Hum Genet 1996;58:998-1007.
4. Chen K-S, Potocki L, Lupski JR. The Smith-Magenis syndrome (del(17)p11.2): clinical review and molecular advances. Ment Retard Dev Disabil Res Rev 1996;2:122-9.
5. Greenberg F, Guzzetta V, Montes de Oca-Luna R, Magenis RE, Smith ACM, Richter SF, Kondo I, Dobyns WB, Patel PI, Lupski JR. Molecular analysis of the Smith-Magenis syndrome: a possible contiguous-gene syndrome associated with del(17) (p11.2). Am J Hum Genet 1991;49:1207-18.
6. Greenberg F, Lewis RA, Potocki L, Glaze D, Parke J, Killian J, Murphy MA, Williamson D, Brown F, Dutton R, McCluggage C, Friedman E, Sulek M, Lupski JR. Multi-disciplinary clinical study of Smith-Magenis Syndrome (deletion 17p11.2). Am J Med Genet 1996;62:247-54.
7. Smith ACM, Dykens E, Greenberg F. Sleep disturbance in Smith-Magenis syndrome (del 17 p11.2). Am J Med Genet 1998;81:186-91.
8. Brzezinski A, Melatonin in humans. N Engl J Med 1997;336:186-95.
9. Dawson D, van den Heuvel CJ. Integrating the actions of melatonin on human physiology. Ann Med 1998;30:95-102.
10. Reiter RJ, Melatonin and human reproduction. Ann Med 1998;30:103-8.
11. Reiter RJ. Oxidative damage to the central nervous system: protection by melatonin. Prog Neurobiol 1998;56:359-84.
12. Reiter RJ. The melatonin rhythm: both a clock and a calender. Experientia 1993;49:654-64.
13. Arendt J, Middleton B, Stone B, Skene D. Complex effects of melatonin: evidence for photoperiodic responses in humans? Sleep 1999;22:625-35.
14. Craft CM. Molecular biology of the pineal gland: melatonin synthesizing enzymes. In: Yu H-S, Reiter RJ, eds. Melatonin biosynthesis, physiological effects, and clinical applications. Boca Raton: CRC Press, 1993:17-38.
15. Yu H-S, Tsin ATC, Reiter RJ. Melatonin: history, biosynthesis, and assay methodology. In: Yu H-S, Reiter RJ, eds. Melatonin biosynthesis, physiological effects, and clinical applications. Boca Raton: CRC Press, 1993:1-16.
16. Aldhous ME, Arendt J. Radioimmunoassay for 6-sulphatoxymelatonin in urine using an iodinaied tracer. Ann Clin Biochem 1988;25:298-303.
17. Reiter RJ, Barlow-Walden L, Poeggeler B, Heiden SM, Clayton RJ. Twenty-four hour urinary excretion of 6-hydroxymelatonin sulfate in Down syndrome subjects. J Pineal Res 1996;20:45-50.
18. Reiter RJ. Pineal melatonin: cell biology of its synthesis and of its physiologic interactions. Endocr Rev 1991;12:151-80.
19. Potocki L, Reiter RJ, Glaze D, Lupski JR. Twenty-four hour urinary excretion of 6-sulphatoxymelatonin in Smith-Magenis syndrome. American College of Medical Genetics 4th Annual Meeting, Fort Lauderdale, FL, 1997.
20. De Leersnyder H, von Kleist-Retzow JC, Munnich A, Claustrat B, Lyonnet S, Vekemans M, De Blois M-C. Inversion of the circadian rhythm of melatonin in Smith-Magenis syndrome. American Society of Human Genetics, 49th Annual Meeting, San Francisco, CA, 1999.
21. Potocki L, Chen K-S, Park S-S, Osterholm DE, Withers MA, Kimonis V, Summers AM, Meschino WS, Anyane-Yeboa K, Kashork CD, Shaffer LG, Lupski JR. Molecular mechanism for duplication 17p11.2 - the homologous recombination reciprocal of the Smith-Magenis microdeletion. Nat Genet 2000;24:84-7.
22. Roa BB, Greenberg F, Gunaratne P, Sauer CM, Lubinsky MS, Kozma C, Meek JM, Magenis RE, Shaffer LG, Lupski JR. Duplication of the PMP22 gene in 17p partial trisomy patients with Charcot-Marie-Tooth type-1A neuropathy. Hum Genet 1996;97:642-9.
23. Chen K-S, Gunaratne PH, Hoheisel JD, Young IG, Gabor Miklos GL, Greenberg F, Shaffer LG, Campbell HD, Lupski JR. The human homologue of the Drosophila melanogaster flightless-I gene (fliI) maps within the Smith-Magenis microdeletion critical region in 17p11.2. Am J Hum Genet 1995;56:175-82.
24. Potocki L, Chen K-S, Lupski JR. Subunit 3 of the COP9 signal transduction complex is conserved from plants to humans and maps within the Smith-Magenis syndrome critical region in 17p11.2. Genomics 1999;57:180-2.
25. Zhao Q, Chen K-S, Bejjani BA, Lupski JR. Cloning, genomic structure, and expression of mouse ring finger protein gene Znf179, Genomics 1998;49:394-400.
26. Zhao Z, Lee C-C, Jiralerspong S, Juyal RC, Lu F, Baldini A, Greenberg F, Caskey CT, Patel PI. The gene for a human microfibril-associated glycoprotein is commonly deleted in Smith-Magenis syndrome patients. Hum Mol Genet 1995;4:589-97.
27. Shaffer LG, Kennedy GM, Spikes AS, Lupski JR. Diagnosis of CMT1A duplications and HNPP deletions by interphase FISH: implications for testing in the cytogenetics laboratory. Am J Med Genet 1997;69:325-31.
28. Pentao L, Wise CA, Chinault AC, Patel PI, Lupski JR. Charcot-Marie-Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit. Nat Genet 1992;2:292-300.
29. Rechtschaffen A, Kales A. A manual of standardized terminology, techniques, and scoring system for sleep stages of human subjects. Washington, DC: US Government Printing Office, Public Health Service, 1968.
30. Arendt J, Bojkowski C, Franey C, Wright J, Marks V. Immunoassay of 6-hydroxymelatonin sulfate in human plasma and urine: abolition of the urinary 24-hour rhythm with atenolol. J Clin Endocrinol Metab 1985;60:1166-73.
31. Vakkuri O, Leppäluoto J, Vuolteenaho O. Development and validation of a melaionin radioimmunoassay using radioiodinated melatonin as tracer Acta Endocrinol 1984;106:152-7.
32. Park JP, Moeschler JB, Davies WS, Patel PI, Mohandas TK. Smith-Magenis syndrome resulting from a de novo direct insertion of proximal 17q into 17p11.2. Am J Med Genet 1998;77:23-7.
33. Chamovitz DA, Wei N, Osterlund MT, von Arnim AG, Staub JM, Matsui M, Deng XW. The COP9 complex, a novel multisubunit nuclear regulator involved in light control of a plant developmental switch. Cell 1996;86:115-21.
34. Wei N, Tsuge T, Serino G, Dohmae N, Takio K, Matsui M, Deng XW. The COP9 complex is conserved between plants and mammals and is related to the 26S proteasome regulatory complex. Curr Biol 1998;8:919-22.