Highly conserved non-coding sequences and the 18q critical region for short stature: A common mechanism of disease?

PLoS ONE

Volumn 3, Issue 1, 2008, Pages

  Rizzolio, Flavio ^a,e   Bione, Silvia ^a,b   Sala, Cinzia ^a   Tribioli, Carla ^b   Ciccone, Roberto ^c   Zuffardi, Orsetta ^c   di Iorgi, Natascia ^d   Maghnie, Mohamad ^d   Toniolo, Daniela ^a,b  

^a SAN RAFFAELE HOSPITAL   (Italy)

^b CNR   (Italy)

^c UNIVERSITY OF PAVIA   (Italy)

^d G GASLINI INSTITUTE   (Italy)

^e TEMPLE UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR SALL3;

ARTICLE; CASE REPORT; CHROMOSOME 18Q; CHROMOSOME ANALYSIS; CHROMOSOME MAP; CHROMOSOME REARRANGEMENT; CHROMOSOME TRANSLOCATION X; CLINICAL EXAMINATION; CLINICAL FEATURE; DNA FLANKING REGION; EMBRYO DEVELOPMENT; ENHANCER REGION; FEMALE; GENE CONTROL; GENE EXPRESSION REGULATION; GENETIC CONSERVATION; GENETIC SCREENING; GROWTH HORMONE DEFICIENCY; HUMAN; HUMAN CELL; HUMAN TISSUE; HYPOPHYSIS; HYPOPHYSIS DISEASE; NUCLEAR MAGNETIC RESONANCE IMAGING; ORGANOGENESIS; PATHOPHYSIOLOGY; PHENOTYPE; PRESCHOOL CHILD; REGULATORY SEQUENCE; SHORT STATURE; SILENCER ELEMENT; ANIMAL; BODY HEIGHT; CHROMOSOME 18; FLUORESCENCE IN SITU HYBRIDIZATION; GENETICS; MALE; MOUSE;

ANIMALS; BODY HEIGHT; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 18; EMBRYONIC DEVELOPMENT; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE; MICE;

EID: 44849110510     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0001460     Document Type: Article

References (34)

1. Dattani MT (2005) Growth hormone deficiency and combined pituitary hormone deficiency: does the genotype matter? Clin Endocrinol (Oxf) 63: 121-130.
2. Mullis PE (2007) Genetics of growth hormone deficiency. Endocrinol Metab Clin North Am 36: 17-36.
3. Rainbow LA, Rees SA, Shaikh MG, Shaw NJ, Cole T, et al. (2005) Mutation analysis of POUF-1, PROP-1 and HESX-1 show low frequency of mutations in children with sporadic forms of combined pituitary hormone deficiency and septo-optic dysplasia. Clin Endocrinol (Oxf) 62: 163-168.
4. Kelberman D, Dattani MT (2006) The role of transcription factors implicated in anterior pituitary development in the actiology of congenital hypopituitarism. Ann Med 38: 560-577.
5. Hale DE, Cody JD, Baillargeon J, Schaub R, Danney MM, et al. (2000) The spectrum of growth abnormalities in children with 18q deletions. J Clin Endocrinol Metab 85: 4450-4454.
6. Cody JD, Hale DE, Brkanac Z, Kaye CI, Leach RJ (1997) Growth hormone insufficiency associated with haploinsufficiency at 18q23. Am J Med Genet 71: 420-425.
7. Eenstra I, Vissers LE, Orsel M, van Kessel AG, Brunner HG, et al. (2007) Genotype-phenotype mapping of chromosome 18q deletions by high-resolution array CGH: An update of the phenotypic map. Am J Med Genet A 143: 1858-1867.
8. Cody JD, Hale DE, Brkanac Z, Kaye CI, Leach RJ (1997) Growth hormone insufficiency associated with haploinsufficiency at 18q23. Am J Med Genet 71: 420-425.
9. Bekiesinska-Figatowska M, Walecki J (2001) MRI of the hypophysis in a patient with the 18q- syndrome. Neuroradiology 43: 875-876.
10. Walton KM, Chin JE, Duplantier AJ, Mather RJ (2006) Galanin function in the central nervous system. Curr Opin Drug Discov Devel 9: 560-570.
11. Lundstrom L, Elmquist A, Bartfai T, Langel U (2005) Galanin and its receptors in neurological disorders. Neuromolecular Med 7: 157-180.
12. Mazarati A, Lu Y, Shinmei S, Badic-Mabdavi H, Bartfai T (2004) Patterns of seizures, hippocampal injury and neurogenesis in three models of status epilepticus in galanin receptor type 1 (GaIR1) knockout mice. Neuroscience 128: 431-441.
13. Larizza D, Maraschio P, Maghnie M, Sampaolo P (1993) Hypogonadism in a patient with balanced X/18 translocation and pituitary hormone deficiency. Eur J Pediatr 152: 424-427.
14. Rizzolio F, Bione S, Sala C, Goegan M, Gentile M, et al. (2006) Chromosomal rearrangements in Xq and premature ovarian failure: mapping of 25 new cases and review of the literature. Hum Reprod 21: 1477-1483.
15. Sandelin A, Bailey P, Bruce S, Engstrom PG, Klos JM, et al. (2004) Arrays of ultraconserved non-coding regions span the loci of key developmental genes in vertebrate genomes. BMC Genomics 5: 99.
16. Bejerano G, Pheasant M, Makunin I, Stephen S, Kent WJ, et al. (2004) Ultraconserved elements in the human genome. Science 304: 1321-1325.
17. Bernstein BE, Mikkelsen TS, Xie X, Kamal M, Huebert DJ, et al. (2006) A bivalent chromatin structure marks key developmental genes in embryonic stem cells. Cell 125: 315-326.
18. Pennacchio LA, Ahituv N, Moses AM, Prabhakar S, Nobrega MA, et al. (2006) In vivo enhancer analysis of human conserved non-coding sequences. Nature 444: 499-502.
19. Baroukh N, Ahituv N, Chang J, Shoukry M, Afzal V, et al. (2005) Comparative genomic analysis reveals a distant liver enhancer upstream of the COUP-TFII gene. Mamm Genome 16: 91-95.
20. Ott T, Parrish M, Bond K, Schwaeger-Nickolenko A, Monaghan AP (2001) A new member of the spalt like zinc finger protein family, Msal-3, is expressed in the CNS and sites of epithelial/mesenchymal interaction. Mech Dev 101: 203-207.
21. Lin J, Patel SR, Wang M, Dressler GR (2006) The cysteine-rich domain protein KCP is a suppressor of transforming growth factor beta/activin signaling in renal epithelia. Mol Cell Biol 26: 4577-4585.
22. Kohlhase J, Hausmann S, Stojmenovic G, Dixkens C, Bink K, et al. (1999) SALL3, a new member of the human spalt-like gene family, maps to 18q23. Genomics 62: 216-222.
23. Coffinier C, Tran U, Larrain J., De Robertis EM (2001) Neuralin-1 is a novel Chordin-related molecule expressed in the mouse neural plate. Mech Dev 100: 119-122.
24. Woolfe A, Goodson M, Goode DK, Snell P, McEwen GK, et al. (2005) Highly conserved non-coding sequences are associated with vertebrate development. PLoS Biol 3: e7.
25. Sweetman D, Munsterberg A (2006) The vertebrate spalt genes in development and disease. Dev Biol 293: 285-293.
26. Berger SL (2007) The complex language of chromatin regulation during transcription. Nature 447: 407-412.
27. Kleinjan DA, van Heyningen V (2005) Long-range control of gene expression: emerging mechanisms and disruption in disease. Am J Hum Genet 76: 8-32.
28. Coffinier C, Tran U, Larrain J, De Robertis EM (2001) Neuralin-1 is a novel Chordin-related molecule expressed in the mouse neural plate. Mech Dev 100: 119-122.
29. Rosenfeld MG, Briata P, Dasen J, Gleiberman AS, Kioussi C, et al. (2000) Multistep signaling and transcriptional requirements for pituitary organogenesis in vivo. Recent Prog Horm Res 55: 1-13; discussion 13-14.
30. Rizzolio F, Sala C, Alboresi S, Bione S, Gilli S, et al. (2007) Epigenetic control of the critical region for premature ovarian failure on autosomal genes translocated to the X chromosome: a hypothesis. Hum Genet 121: 441-450.
31. Rossetti F, Rizzolio F, Pramparo T, Sala C, Bione S, et al. (2004) A susceptibility gene for premature ovarian failure (POF) maps to proximal Xq28. Eur J Hum Genet 12: 829-834.
32. Rossi E, Faiella A, Zeviani M, Labeit S, Floridia G, et al. (1994) Order of six loci at 2q24-q31 and orientation of the HOXD locus. Genomics 24: 34-40.
33. Litt MD, Simpson M, Recillas-Targa F, Prioleau MN, Felsenfeld G (2001) Transitions in histone acetylation reveal boundaries of three separately regulated neighboring loci. Embo J 20: 2224-2235.
34. Rizzolio F, Bione S, Villa A, Berti E, Cassetti A, et al. (2007) Spatial and temporal expression of POFIB, a gene expressed in epithelia. Gene Expr Patterns 7: 529-534.