Sequence variation in ultraconserved and highly conserved elements does not cause X-linked mental retardation [1]

American Journal of Medical Genetics, Part A

Volumn 143, Issue 8, 2007, Pages 888-890

  Bottani, Armand ^a   Chelly, Jamel ^b   De Brouwer, Arjan P M ^c   Pardo, Bruno ^a   Barker, Mandy ^a   Capra, Valeria ^d   Bartoloni, Lucia ^a   Antonarakis, Stylianos E ^a   Conrad, Bernard ^a,e  

^a UNIVERSITY OF GENEVA MEDICAL SCHOOL   (Switzerland)

^b INSTITUT COCHIN   (France)

^c RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^d G GASLINI INSTITUTE   (Italy)

^e UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

CAUSAL ATTRIBUTION; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE ASSOCIATION; FEMALE; GENETIC ASSOCIATION; GENETIC CONSERVATION; GENOME ANALYSIS; HUMAN; LETTER; MALE; MOUSE; NONHUMAN; PRIORITY JOURNAL; RAT; SEQUENCE ANALYSIS; UNTRANSLATED REGION; X CHROMOSOME LINKAGE; X LINKED MENTAL RETARDATION;

BASE SEQUENCE; CONSERVED SEQUENCE; FEMALE; GENE FREQUENCY; HUMANS; MALE; MENTAL RETARDATION, X-LINKED; VARIATION (GENETICS);

EID: 34147157908     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31651     Document Type: Letter

References (10)

1. Badano JL, Katsanis N. 2002. Beyond Mendel: An evolving view of human genetic disease transmission. Nat Rev Genet 3:779-789.
2. Bejerano G, Pheasant M, Makunin I, Stephen S, Kent WJ, Mattick JS, Haussler D. 2004. Ultraconserved elements in the human genome. Science 304:1321-1325.
3. Dermitzakis ET, Reymond A, Antonarakis SE. 2005. Conserved non-genic sequences-an unexpected feature of mammalian genomes. Nat Rev Genet 6:151-157.
4. Drake JA, Bird C, Nemesh J, Thomas DJ, Newton-Cheh C, Reymond A, Excoffier L, Attar H, Antonarakis SE, Dermitzakis ET, Hirschhorn JN. 2006. Conserved noncoding sequences are selectively constrained and not mutation cold spots. Nat Genet 38:223-227.
5. Mandel JL, Chelly J. 2004. Monogenic X-linked mental retardation: Is it as frequent as currently estimated? The paradox of the ARX (Aristaless X) mutations. Eur J Hum Genet 12:689-693.
6. Poirier K, Lacombe D, Gilbert-Dussardier B, Raynaud M, Desportes V, de Brouwer AP, Moraine C, Fryns JP, Ropers HH, Beldjord C, Chelly J, Bienvenu T. 2006. Screening of ARX in mental retardation families: Consequences for the strategy of molecular diagnosis. Neurogenetics 7:39-46.
7. Richler E, Reichert JG, Buxbaum JD, McInnes LA. 2006. Autism and ultraconserved non-coding sequence on chromosome 7q. Psychiatr Genet 16:19-23.
8. Ropers HH, Hamel BC. 2005. X-linked mental retardation. Nat Rev Genet 6:46-57.
9. Siepel A, Bejerano G, Pedersen JS, Hinrichs AS, Hou M, Rosenbloom K, Clawson H, Spieth J, Hillier LW, Richards S, Weinstock GM, Wilson RK, Gibbs RA, Kent WJ, Miller W, Haussler D. 2005. Evolutionarily conserved elements in vertebrate, insect, worm, and yeast genomes. Genome Res 15:1034-1050.
10. Waterston RH, Lindblad-Toh K, Birney E, Rogers J, Abril JF, Agarwal P, Agarwala R, Ainscough R, Alexandersson M, An P, Antonarakis SE, Attwood J, Baertsch R, Bailey J, Barlow K, Beck S, Berry E, Birren B, Bloom T, Bork P, Botcherby M, Bray N, Brent MR, Brown DG, Brown SD, Bult C, Burton J, Butler J, Campbell RD, Carninci P, Cawley S, Chiaromonte F, Chinwalla AT, Church DM, Clamp M, Clee C, Collins FS, Cook LL, Copley RR, Coulson A, Couronne O, Cuff J, Curwen V, Cutts T, Daly M, David R, Davies J, Delehaunty KD, Deri J, Dermitzakis ET, Dewey C, Dickens NJ, Diekhans M, Dodge S, Dubchak I, Dunn DM, Eddy SR, Elnitski L, Emes RD, Eswara P, Eyras E, Felsenfeld A, Fewell GA, Flicek P, Foley K, Frankel WN, Fulton LA, Fulton RS, Furey TS, Gage D, Gibbs RA, Glusman G, Gnerre S, Goldman N, Goodstadt L, Grafham D, Graves TA, Green ED, Gregory S, Guigo R, Guyer M, Hardison RC, Haussler D, Hayashizaki Y, Hillier LW, Hinrichs A, Hlavina W, Holzer T, Hsu F, Hua A, Hubbard T, Hunt A, Jackson I, Jaffe DB, Johnson LS, Jones M, Jones TA, Joy A, Kamal M, Karlsson EK, Karolchik D, Kasprzyk A, Kawai J, Keibler E, Kells C, Kent WJ, Kirby A, Kolbe DL, Korf I, Kucherlapati RS, Kulbokas EJ, Kulp D, Landers T, Leger JP, Leonard S, Letunic I, Levine R, Li J, Li M, Lloyd C, Lucas S, Ma B, Maglott DR, Mardis ER, Matthews L, Mauceli E, Mayer JH, McCarthy M, McCombie WR, McLaren S, McLay K, McPherson JD, Meldrim J, Meredith B, Mesirov JP, Miller W, Miner TL, Mongin E, Montgomery KT, Morgan M, Mott R, Mullikin JC, Muzny DM, Nash WE, Nelson JO, Nhan MN, Nicol R, Ning Z, Nusbaum C, O'Connor MJ, Okazaki Y, Oliver K, Overton-Larty E, Pachter L, Parra G, Pepin KH, Peterson J, Pevzner P, Plumb R, Pohl CS, Poliakov A, Ponce TC, Ponting CP, Potter S, Quail M, Reymond A, Roe BA, Roskin KM, Rubin EM, Rust AG, Santos R, Sapojnikov V, Schultz B, Schultz J, Schwartz MS, Schwartz S, Scott C, Seaman S, Searle S, Sharpe T, Sheridan A, Shownkeen R, Sims S, Singer JB, Slater G, Smit A, Smith DR, Spencer B, Stabenau A, Stange-Thomann N, Sugnet C, Suyama M, Tesler G, Thompson J, Torrents D, Trevaskis E, Tromp J, Ucla C, Ureta-Vidal A, Vinson JP, Von Niederhausern AC, Wade CM, Wall M, Weber RJ, Weiss RB, Wendl MC, West AP, Wetterstrand K, Wheeler R, Whelan S, Wierzbowski J, Willey D, Williams S, Wilson RK, Winter E, Worley KC, Wyman D, Yang S, Yang SP, Zdobnov EM, Zody MC, Lander ES. 2002. Initial sequencing and comparative analysis of the mouse genome. Nature 420:520-562.