{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,7,10]],"date-time":"2024-07-10T12:43:15Z","timestamp":1720615395325},"reference-count":54,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2005,11,9]],"date-time":"2005-11-09T00:00:00Z","timestamp":1131494400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/2.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Genomics"],"published-print":{"date-parts":[[2005,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n          <jats:sec>\n            <jats:title>Background<\/jats:title>\n            <jats:p>Prader-Willi and Angelman syndrome (PWS and AS) patients typically have an ~5 Mb deletion of human chromosome 15q11-q13, of opposite parental origin. A mouse model of PWS and AS has a transgenic insertion-deletion (TgPWS\/TgAS) of chromosome 7B\/C subsequent to paternal or maternal inheritance, respectively. In this study, we define the deletion endpoints and examine the impact on expression of flanking genes.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Results<\/jats:title>\n            <jats:p>Using molecular and cytological methods we demonstrate that 13 imprinted and 11 non-imprinted genes are included in the TgPWS\/TgAS deletion. Normal expression levels were found in TgPWS brain for genes extending 9.1- or 5.6-Mb centromeric or telomeric of the deletion, respectively. Our molecular cytological studies map the proximal deletion breakpoint between the <jats:italic>Luzp2<\/jats:italic> and <jats:italic>Siglec-H<\/jats:italic> loci, and we show that overall mRNA levels of <jats:italic>Luzp2<\/jats:italic> in TgPWS and TgAS brain are significantly reduced by 17%. Intriguingly, 5' <jats:italic>Chrna7<\/jats:italic> shows 1.7-fold decreased levels in TgPWS and TgAS brain whereas there is a \u226515-fold increase in expression in neonatal liver and spleen of these mouse models. By isolating a <jats:italic>Chrna7<\/jats:italic>-Tg fusion transcript from TgAS mice, we mapped the telomeric deletion breakpoint in <jats:italic>Chrna7<\/jats:italic> intron 4.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Conclusion<\/jats:title>\n            <jats:p>Based on the extent of the deletion, TgPWS\/TgAS mice are models for PWS\/AS class I deletions. Other than for the first gene promoters immediately outside the deletion, since genes extending 5.6\u20139.1 Mb away from each end of the deletion show normal expression levels in TgPWS brain, this indicates that the transgene array does not induce silencing and there are no additional linked rearrangements. Using gene expression, non-coding conserved sequence (NCCS) and synteny data, we have genetically mapped a putative <jats:italic>Luzp2<\/jats:italic> neuronal enhancer responsible for ~33% of allelic transcriptional activity. The <jats:italic>Chrna7<\/jats:italic> results are explained by hypothesizing loss of an essential neuronal transcriptional enhancer required for ~80% of allelic <jats:italic>Chrna7<\/jats:italic> promoter activity, while the <jats:italic>Chrna7<\/jats:italic> promoter is upregulated in B lymphocytes by the transgene immunoglobulin enhancer. The mapping of a putative <jats:italic>Chrna7<\/jats:italic> neuronal enhancer inside the deletion has significant implications for understanding the transcriptional regulation of this schizophrenia-susceptibility candidate gene.<\/jats:p>\n          <\/jats:sec>","DOI":"10.1186\/1471-2164-6-157","type":"journal-article","created":{"date-parts":[[2005,11,11]],"date-time":"2005-11-11T19:13:57Z","timestamp":1131736437000},"update-policy":"http:\/\/dx.doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":15,"title":["Genetic mapping of putative Chrna7 and Luzp2 neuronal transcriptional enhancers due to impact of a transgene-insertion and 6.8 Mb deletion in a mouse model of Prader-Willi and Angelman syndromes"],"prefix":"10.1186","volume":"6","author":[{"given":"Mihaela","family":"Stefan","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kathryn C","family":"Claiborn","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Edyta","family":"Stasiek","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jing-Hua","family":"Chai","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tohru","family":"Ohta","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Richard","family":"Longnecker","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John M","family":"Greally","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robert D","family":"Nicholls","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2005,11,9]]},"reference":[{"key":"358_CR1","doi-asserted-by":"publisher","first-page":"153","DOI":"10.1146\/annurev.genom.2.1.153","volume":"2","author":"RD Nicholls","year":"2001","unstructured":"Nicholls RD, Knepper JL: Genome organization, function, and imprinting in Prader-Willi and Angelman syndromes. Annu Rev Genomics Hum Genet. 2001, 2: 153-175. 10.1146\/annurev.genom.2.1.153.","journal-title":"Annu Rev Genomics Hum Genet"},{"key":"358_CR2","doi-asserted-by":"publisher","first-page":"140","DOI":"10.1097\/00005792-199803000-00005","volume":"77","author":"SB Cassidy","year":"1998","unstructured":"Cassidy SB, Schwartz S: Prader-Willi and Angelman syndromes. Disorders of genomic imprinting. Medicine (Baltimore). 1998, 77: 140-151. 10.1097\/00005792-199803000-00005.","journal-title":"Medicine (Baltimore)"},{"key":"358_CR3","doi-asserted-by":"publisher","first-page":"S81","DOI":"10.1016\/S1096-6374(00)80015-5","volume":"10","author":"CJ P\u00e4rtsch","year":"2000","unstructured":"P\u00e4rtsch CJ, Lammer C, Gillessen-Kaesbach G, Pankau R: Adult patients with Prader-Willi syndrome: clinical characteristics, life circumstances and growth hormone secretion. Growth Horm IGF Res. 2000, 10: S81-S85. 10.1016\/S1096-6374(00)80015-5.","journal-title":"Growth Horm IGF Res"},{"key":"358_CR4","doi-asserted-by":"publisher","first-page":"370","DOI":"10.1086\/302510","volume":"65","author":"JM Amos-Landgraf","year":"1999","unstructured":"Amos-Landgraf JM, Ji Y, Gottlieb W, Depinet T, Wandstrat AE, Cassidy SB, Driscoll DJ, Rogan PK, Schwartz S, Nicholls RD: Chromosome breakage in the Prader-Willi and Angelman syndromes involves recombination between large, transcribed repeats at proximal and distal breakpoints. Am J Hum Genet. 1999, 65: 370-386. 10.1086\/302510.","journal-title":"Am J Hum Genet"},{"key":"358_CR5","doi-asserted-by":"publisher","first-page":"270","DOI":"10.1038\/ng1292-270","volume":"2","author":"BM Cattanach","year":"1992","unstructured":"Cattanach BM, Barr JA, Evans EP, Burtenshaw M, Beechey CV, Leff SE, Brannan CI, Copeland NG, Jenkins NA, Jones J: A candidate mouse model for Prader-Willi syndrome which shows an absence of Snrpn expression. Nat Genet. 1992, 2: 270-274. 10.1038\/ng1292-270.","journal-title":"Nat Genet"},{"key":"358_CR6","doi-asserted-by":"publisher","first-page":"25","DOI":"10.1038\/ng0598-25","volume":"19","author":"T Yang","year":"1998","unstructured":"Yang T, Adamson TE, Resnick JL, Leff S, Wevrick R, Francke U, Jenkins NA, Copeland NG, Brannan CI: A mouse model for Prader-Willi syndrome imprinting-centre mutations. Nat Genet. 1998, 19: 25-31.","journal-title":"Nat Genet"},{"key":"358_CR7","doi-asserted-by":"publisher","first-page":"9258","DOI":"10.1073\/pnas.96.16.9258","volume":"96","author":"JM Gabriel","year":"1999","unstructured":"Gabriel JM, Merchant M, Ohta T, Ji Y, Caldwell RG, Ramsey MJ, Tucker JD, Longnecker R, Nicholls RD: A transgene insertion creating a heritable chromosome deletion mouse model of Prader-Willi and Angelman syndromes. Proc Natl Acad Sci USA. 1999, 96: 9258-9263. 10.1073\/pnas.96.16.9258.","journal-title":"Proc Natl Acad Sci USA"},{"key":"358_CR8","first-page":"313","volume-title":"Prog Obesity Res","author":"RD Nicholls","year":"2003","unstructured":"Nicholls RD, Stefan M, Ji H, Qi Y, Frayo RS, Wharton RH, Dhar MS, Cummings DE, Friedman MI, Ahima RS: Mouse models for Prader-Willi and Angelman syndromes offer insights into novel obesity mechanisms. Prog Obesity Res. Edited by: Medeiros-Neto G, Halpern A, Bouchard C. 2003, 313-319."},{"key":"358_CR9","doi-asserted-by":"publisher","first-page":"4377","DOI":"10.1210\/en.2005-0371","volume":"146","author":"M Stefan","year":"2005","unstructured":"Stefan M, Ji H, Simmons RA, Cummings DE, Ahima RS, Friedman MI, Nicholls RD: Hormonal and metabolic defects in a Prader-Willi syndrome mouse model with neonatal failure to thrive. Endocrinology. 2005, 146: 4377-4385. 10.1210\/en.2005-0371.","journal-title":"Endocrinology"},{"key":"358_CR10","doi-asserted-by":"publisher","first-page":"472","DOI":"10.1007\/s003359900479","volume":"8","author":"BM Cattanach","year":"1997","unstructured":"Cattanach BM, Barr JA, Beechey CV, Martin J, Noebels J, Jones J: A candidate model for Angelman syndrome in the mouse. Mamm Genome. 1997, 8: 472-478. 10.1007\/s003359900479.","journal-title":"Mamm Genome"},{"key":"358_CR11","doi-asserted-by":"publisher","first-page":"799","DOI":"10.1016\/S0896-6273(00)80596-6","volume":"21","author":"YH Jiang","year":"1998","unstructured":"Jiang YH, Armstrong D, Albrecht U, Atkins CM, Noebels JL, Eichele G, Sweatt JD, Beaudet AL: Mutation of the Angelman ubiquitin ligase in mice causes increased cytoplasmic p53 and deficits of contextual learning and long-term potentiation. Neuron. 1998, 21: 799-811. 10.1016\/S0896-6273(00)80596-6.","journal-title":"Neuron"},{"key":"358_CR12","doi-asserted-by":"publisher","first-page":"149","DOI":"10.1006\/nbdi.2001.0463","volume":"9","author":"K Miura","year":"2002","unstructured":"Miura K, Kishino T, Li E, Webber H, Dikkes P, Holmes GL, Wagstaff J: Neurobehavioral and electroencephalographic abnormalities in Ube3a maternal-deficient mice. Neurobiol Dis. 2002, 9: 149-159. 10.1006\/nbdi.2001.0463.","journal-title":"Neurobiol Dis"},{"key":"358_CR13","doi-asserted-by":"publisher","first-page":"813","DOI":"10.1007\/s00335-001-2083-1","volume":"12","author":"JH Chai","year":"2001","unstructured":"Chai JH, Locke DP, Ohta T, Greally JM, Nicholls RD: Retrotransposed genes such as Frat3 in the mouse Chromosome 7C Prader-Willi syndrome region acquire the imprinted status of their insertion site. Mamm Genome. 2001, 12: 813-821. 10.1007\/s00335-001-2083-1.","journal-title":"Mamm Genome"},{"key":"358_CR14","doi-asserted-by":"publisher","first-page":"898","DOI":"10.1086\/378816","volume":"73","author":"JH Chai","year":"2003","unstructured":"Chai JH, Locke DP, Greally JM, Knoll JH, Ohta T, Dunai J, Yavor A, Eichler EE, Nicholls RD: Identification of four highly conserved genes between breakpoint hotspots BP1 and BP2 of the Prader-Willi\/Angelman syndromes deletion region that have undergone evolutionary transposition mediated by flanking duplicons. Am J Hum Genet. 2003, 73: 898-925. 10.1086\/378816.","journal-title":"Am J Hum Genet"},{"key":"358_CR15","doi-asserted-by":"publisher","first-page":"630","DOI":"10.1016\/j.ygeno.2005.02.004","volume":"85","author":"M Stefan","year":"2005","unstructured":"Stefan M, Portis T, Longnecker R, Nicholls RD: A nonimprinted Prader-Willi Syndrome (PWS)-region gene regulates a different chromosomal domain in trans but the imprinted PWS loci do not alter genome-wide mRNA levels. Genomics. 2005, 85: 630-640. 10.1016\/j.ygeno.2005.02.004.","journal-title":"Genomics"},{"key":"358_CR16","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1016\/S1074-7613(00)80623-8","volume":"9","author":"RG Caldwell","year":"1998","unstructured":"Caldwell RG, Wilson JB, Anderson SJ, Longnecker R: Epstein-Barr virus LMP2A drives B cell development and survival in the absence of normal B cell receptor signals. Immunity. 1998, 9: 405-411. 10.1016\/S1074-7613(00)80623-8.","journal-title":"Immunity"},{"key":"358_CR17","doi-asserted-by":"publisher","first-page":"101","DOI":"10.1002\/1097-0320(20010201)43:2<101::AID-CYTO1024>3.0.CO;2-8","volume":"43","author":"O Henegariu","year":"2001","unstructured":"Henegariu O, Heerema NA, Lowe Wright L, Bray-Ward P, Ward DC, Vance GH: Improvements in cytogenetic slide preparation: controlled chromosome spreading, chemical aging and gradual denaturing. Cytometry. 2001, 43: 101-109. 10.1002\/1097-0320(20010201)43:2<101::AID-CYTO1024>3.0.CO;2-8.","journal-title":"Cytometry"},{"key":"358_CR18","doi-asserted-by":"publisher","first-page":"14430","DOI":"10.1073\/pnas.96.25.14430","volume":"96","author":"JM Greally","year":"1999","unstructured":"Greally JM, Gray TA, Gabriel JM, Song L, Zemel S, Nicholls RD: Conserved characteristics of heterochromatin-forming DNA at the 15q11-q13 imprinting center. Proc Nat Acad Sci USA. 1999, 96: 14430-14435. 10.1073\/pnas.96.25.14430.","journal-title":"Proc Nat Acad Sci USA"},{"key":"358_CR19","doi-asserted-by":"publisher","first-page":"1073","DOI":"10.1038\/ng1429","volume":"36","author":"JT Mendell","year":"2004","unstructured":"Mendell JT, Sharifi NA, Meyers JL, Martinez-Murillo F, Dietz HC: Nonsense surveillance regulates expression of diverse classes of mammalian transcripts and mutes genomic noise. Nat Genet. 2004, 36: 1073-1078. 10.1038\/ng1429.","journal-title":"Nat Genet"},{"key":"358_CR20","doi-asserted-by":"publisher","first-page":"45128","DOI":"10.1074\/jbc.M108573200","volume":"276","author":"T Angata","year":"2001","unstructured":"Angata T, Hingorani R, Varki NM, Varki A: Cloning and characterization of a novel mouse Siglec, mSiglec-F: differential evolution of the mouse and human (CD33) Siglec-3-related gene clusters. J Biol Chem. 2001, 276: 45128-45136. 10.1074\/jbc.M108573200.","journal-title":"J Biol Chem"},{"key":"358_CR21","doi-asserted-by":"publisher","first-page":"13251","DOI":"10.1073\/pnas.0404833101","volume":"101","author":"T Angata","year":"2004","unstructured":"Angata T, Margulies EH, Green ED, Varki A: Large-scale sequencing of the CD33-related Siglec gene cluster in five mammalian species reveals rapid evolution by multiple mechanisms. Proc Natl Acad Sci USA. 2004, 101: 13251-13256. 10.1073\/pnas.0404833101.","journal-title":"Proc Natl Acad Sci USA"},{"key":"358_CR22","doi-asserted-by":"publisher","first-page":"609","DOI":"10.1016\/S0959-440X(02)00375-5","volume":"12","author":"PR Crocker","year":"2002","unstructured":"Crocker PR: Siglecs: sialic-acid-binding immunoglobulin-like lectins in cell-cell interactions and signalling. Curr Opin Struct Biol. 2002, 12: 609-615. 10.1016\/S0959-440X(02)00375-5.","journal-title":"Curr Opin Struct Biol"},{"key":"358_CR23","doi-asserted-by":"publisher","first-page":"565","DOI":"10.1542\/peds.113.3.565","volume":"113","author":"MG Butler","year":"2004","unstructured":"Butler MG, Bittel DC, Kibiryeva N, Talebizadeh Z, Thompson T: Behavioral differences among subjects with Prader-Willi syndrome and type I or type II deletion and maternal disomy. Pediatrics. 2004, 113: 565-5673. 10.1542\/peds.113.3.565.","journal-title":"Pediatrics"},{"key":"358_CR24","doi-asserted-by":"publisher","first-page":"987","DOI":"10.1038\/sj.ejhg.5201264","volume":"12","author":"MC Varela","year":"2004","unstructured":"Varela MC, Kok F, Otto PA, Koiffmann CP: Phenotypic variability in Angelman syndrome: comparison among different deletion classes and between deletion and UPD subjects. Eur J Hum Genet. 2004, 12: 987-992. 10.1038\/sj.ejhg.5201264.","journal-title":"Eur J Hum Genet"},{"key":"358_CR25","doi-asserted-by":"publisher","first-page":"323","DOI":"10.1007\/s00335-002-2248-6","volume":"14","author":"M Wu","year":"2003","unstructured":"Wu M, Michaud EJ, Johnson DK: Cloning, functional study and comparative mapping of Luzp2 to mouse chromosome 7 and human chromosome 11p13-11p14. Mamm Genome. 2003, 14: 323-334. 10.1007\/s00335-002-2248-6.","journal-title":"Mamm Genome"},{"key":"358_CR26","doi-asserted-by":"crossref","first-page":"9165","DOI":"10.1523\/JNEUROSCI.17-23-09165.1997","volume":"17","author":"A Orr-Urtreger","year":"1997","unstructured":"Orr-Urtreger A, Goldner FM, Saeki M, Lorenzo I, Goldberg L, De Biasi M, Dani JA, Patrick JW, Beaudet AL: Mice deficient in the alpha7 neuronal nicotinic acetylcholine receptor lack alpha-bungarotoxin binding sites and hippocampal fast nicotinic currents. J Neurosci. 1997, 17: 9165-9171.","journal-title":"J Neurosci"},{"key":"358_CR27","doi-asserted-by":"publisher","first-page":"325","DOI":"10.1083\/jcb.200206096","volume":"159","author":"J Arredondo","year":"2002","unstructured":"Arredondo J, Nguyen VT, Chernyavsky AI, Bercovich D, Orr-Urtreger A, Kummer W, Lips K, Vetter DE, Grando SA: Central role of alpha7 nicotinic receptor in differentiation of the stratified squamous epithelium. J Cell Biol. 2002, 159: 325-336. 10.1083\/jcb.200206096.","journal-title":"J Cell Biol"},{"key":"358_CR28","doi-asserted-by":"publisher","first-page":"41","DOI":"10.1016\/j.brainres.2004.07.006","volume":"1023","author":"BJ Morley","year":"2004","unstructured":"Morley BJ, Rodriguez-Sierra JF: A phenotype for the alpha 7 nicotinic acetylcholine receptor null mutant. Brain Res. 2004, 1023: 41-47. 10.1016\/j.brainres.2004.07.006.","journal-title":"Brain Res"},{"key":"358_CR29","doi-asserted-by":"publisher","first-page":"807","DOI":"10.1095\/biolreprod.105.042184","volume":"73","author":"C Bray","year":"2005","unstructured":"Bray C, Son JH, Kumar P, Meizel S: Mice deficient in CHRNA7, a subunit of the nicotinic acetylcholine receptor, produce sperm with impaired motility. Biol Reprod. 2005, 73: 807-814. 10.1095\/biolreprod.105.042184.","journal-title":"Biol Reprod"},{"key":"358_CR30","doi-asserted-by":"publisher","first-page":"1205","DOI":"10.1101\/gr.181101","volume":"11","author":"P Stankiewicz","year":"2001","unstructured":"Stankiewicz P, Park SS, Inoue K, Lupski JR: The evolutionary chromosome translocation 4;19 in Gorilla gorilla is associated with microduplication of the chromosome fragment syntenic to sequences surrounding the human proximal CMT1A-REP. Genome Res. 2001, 11: 1205-1210. 10.1101\/gr.181101.","journal-title":"Genome Res"},{"key":"358_CR31","doi-asserted-by":"publisher","first-page":"R23","DOI":"10.1186\/gb-2004-5-4-r23","volume":"5","author":"JA Bailey","year":"2004","unstructured":"Bailey JA, Baertsch R, Kent WJ, Haussler D, Eichler EE: Hotspots of mammalian chromosomal evolution. Genome Biol. 2004, 5: R23-10.1186\/gb-2004-5-4-r23.","journal-title":"Genome Biol"},{"key":"358_CR32","doi-asserted-by":"publisher","first-page":"814","DOI":"10.1016\/j.ygeno.2004.07.009","volume":"84","author":"DP Mortlock","year":"2004","unstructured":"Mortlock DP, Portnoy ME, Chandler RL, Green ED: Comparative sequence analysis of the Gdf6 locus reveals a duplicon-mediated chromosomal rearrangement in rodents and rapidly diverging coding and regulatory sequences. Genomics. 2004, 84: 814-823. 10.1016\/j.ygeno.2004.07.009.","journal-title":"Genomics"},{"key":"358_CR33","doi-asserted-by":"publisher","first-page":"2543","DOI":"10.1242\/dev.01126","volume":"131","author":"BT MacDonald","year":"2004","unstructured":"MacDonald BT, Adamska M, Meisler MH: Hypomorphic expression of Dkk1 in the doubleridge mouse: dose dependence and compensatory interactions with Lrp6. Development. 2004, 131: 2543-2552. 10.1242\/dev.01126.","journal-title":"Development"},{"key":"358_CR34","doi-asserted-by":"publisher","first-page":"179","DOI":"10.1007\/s00335-001-2121-z","volume":"13","author":"D Cunningham","year":"2002","unstructured":"Cunningham D, Xiao Q, Chatterjee A, Sulik K, Juriloff D, Elder F, Harrison W, Schuster G, Overbeek PA, Herman GE: Exma: an X-linked insertional mutation that disrupts forebrain and eye development. Mamm Genome. 2002, 13: 179-185. 10.1007\/s00335-001-2121-z.","journal-title":"Mamm Genome"},{"key":"358_CR35","doi-asserted-by":"publisher","first-page":"572","DOI":"10.1006\/geno.1997.4976","volume":"45","author":"DJ Smiraglia","year":"1997","unstructured":"Smiraglia DJ, Wu C, Ellsworth MK, Ratty AK, Chapman VM, Gross KW: Genetic characterization of the chromosomal rearrangements that accompany the transgene insertion in the chakragati mouse mutant. Genomics. 1997, 45: 572-579. 10.1006\/geno.1997.4976.","journal-title":"Genomics"},{"key":"358_CR36","doi-asserted-by":"publisher","first-page":"1213","DOI":"10.1095\/biolreprod.103.024802","volume":"70","author":"M Kai","year":"2004","unstructured":"Kai M, Irie M, Okutsu T, Inoue K, Ogonuki N, Miki H, Yokoyama M, Migishima R, Muguruma K, Fujimura H, Kohda T, Ogura A, Kaneko-Ishino T, Ishino F: The novel dominant mutation Dspd leads to a severe spermiogenesis defect in mice. Biol Reprod. 2004, 70: 1213-1221. 10.1095\/biolreprod.103.024802.","journal-title":"Biol Reprod"},{"key":"358_CR37","doi-asserted-by":"publisher","first-page":"149","DOI":"10.1038\/2450","volume":"20","author":"D Morgan","year":"1998","unstructured":"Morgan D, Turnpenny L, Goodship J, Dai W, Majumder K, Matthews L, Gardner A, Schuster G, Vien L, Harrison W, Elder FF, Penman-Splitt M, Overbeek P, Strachan T: Inversin, a novel gene in the vertebrate left-right axis pathway, is partially deleted in the inv mouse. Nat Genet. 1998, 20: 149-156. 10.1038\/2450. (Erratum in: 20, 312)","journal-title":"Nat Genet"},{"key":"358_CR38","doi-asserted-by":"publisher","first-page":"1213","DOI":"10.1093\/hmg\/ddh141","volume":"13","author":"Y Qin","year":"2004","unstructured":"Qin Y, Kong LK, Poirier C, Truong C, Overbeek PA, Bishop CE: Long-range activation of Sox9 in Odd Sex (Ods) mice. Hum Mol Genet. 2004, 13: 1213-1218. 10.1093\/hmg\/ddh141.","journal-title":"Hum Mol Genet"},{"key":"358_CR39","doi-asserted-by":"publisher","first-page":"1321","DOI":"10.1126\/science.1098119","volume":"304","author":"G Bejerano","year":"2004","unstructured":"Bejerano G, Pheasant M, Makunin I, Stephen S, Kent WJ, Mattick JS, Haussler D: Ultraconserved elements in the human genome. Science. 2004, 304: 1321-1325. 10.1126\/science.1098119.","journal-title":"Science"},{"key":"358_CR40","doi-asserted-by":"publisher","first-page":"151","DOI":"10.1038\/nrg1527","volume":"6","author":"ET Dermitzakis","year":"2005","unstructured":"Dermitzakis ET, Reymond A, Antonarakis SE: Conserved non-genic sequences \u2013 an unexpected feature of mammalian genomes. Nat Rev Genet. 2005, 6: 151-157. 10.1038\/nrg1527.","journal-title":"Nat Rev Genet"},{"key":"358_CR41","doi-asserted-by":"publisher","first-page":"136","DOI":"10.1126\/science.288.5463.136","volume":"288","author":"GG Loots","year":"2000","unstructured":"Loots GG, Locksley RM, Blankespoor CM, Wang ZE, Miller W, Rubin EM, Frazer KA: Identification of a coordinate regulator of interleukins 4, 13, and 5 by cross-species sequence comparisons. Science. 2000, 288: 136-140. 10.1126\/science.288.5463.136.","journal-title":"Science"},{"key":"358_CR42","doi-asserted-by":"publisher","first-page":"413","DOI":"10.1126\/science.1088328","volume":"302","author":"MA Nobrega","year":"2003","unstructured":"Nobrega MA, Ovcharenko I, Afzal V, Rubin EM: Scanning human gene deserts for long-range enhancers. Science. 2003, 302: 413-10.1126\/science.1088328.","journal-title":"Science"},{"key":"358_CR43","doi-asserted-by":"publisher","first-page":"31","DOI":"10.1113\/jphysiol.2003.050948","volume":"554","author":"MA Nobrega","year":"2004","unstructured":"Nobrega MA, Pennacchio LA: Comparative genomic analysis as a tool for biological discovery. J Physiol. 2004, 554: 31-39. 10.1113\/jphysiol.2003.050948.","journal-title":"J Physiol"},{"key":"358_CR44","doi-asserted-by":"publisher","first-page":"181","DOI":"10.1038\/72635","volume":"18","author":"B Gottgens","year":"2000","unstructured":"Gottgens B, Barton LM, Gilbert JG, Bench AJ, Sanchez MJ, Bahn S, Mistry S, Grafham D, McMurray A, Vaudin M, Amaya E, Bentley DR, Green AR, Sinclair AM: Analysis of vertebrate SCL loci identifies conserved enhancers. Nat Biotechnol. 2000, 18: 181-186. 10.1038\/72635.","journal-title":"Nat Biotechnol"},{"key":"358_CR45","doi-asserted-by":"publisher","first-page":"532","DOI":"10.1002\/(SICI)1521-1878(199807)20:7<532::AID-BIES3>3.0.CO;2-M","volume":"20","author":"S Henikoff","year":"1998","unstructured":"Henikoff S: Conspiracy of silence among repeated transgenes. Bioessays. 1998, 20: 532-535. 10.1002\/(SICI)1521-1878(199807)20:7<532::AID-BIES3>3.0.CO;2-M.","journal-title":"Bioessays"},{"key":"358_CR46","doi-asserted-by":"publisher","first-page":"587","DOI":"10.1073\/pnas.94.2.587","volume":"94","author":"R Freedman","year":"1997","unstructured":"Freedman R, Coon H, MylesWorsley M, OrrUrtreger A, Olincy A, Davis A, Polymeropoulos M, Holik J, Hopkins J, Hoff M, Rosenthal J, Waldo MC, Reimherr F, Wender P, Yaw J, Young DA, Breese CR, Adams C, Patterson D, Adler LE, Kruglyak L, Leonard S, Byerley W: Linkage of a neurophysiological deficit in schizophrenia to a chromosome 15 locus. Proc Natl Acad Sci USA. 1997, 94: 587-592. 10.1073\/pnas.94.2.587.","journal-title":"Proc Natl Acad Sci USA"},{"key":"358_CR47","doi-asserted-by":"publisher","first-page":"655","DOI":"10.1002\/ajmg.1548","volume":"105","author":"R Freedman","year":"2001","unstructured":"Freedman R, Leonard S: Genetic linkage to schizophrenia at chromosome 15q14. Am J Med Genet. 2001, 105: 655-657. 10.1002\/ajmg.1548.","journal-title":"Am J Med Genet"},{"key":"358_CR48","doi-asserted-by":"crossref","first-page":"1948","DOI":"10.1096\/fj.03-0104fje","volume":"17","author":"O Perl","year":"2003","unstructured":"Perl O, Ilani T, Strous RD, Lapidus R, Fuchs S: The alpha7 nicotinic acetylcholine receptor in schizophrenia: decreased mRNA levels in peripheral blood lymphocytes. FASEB J. 2003, 17: 1948-1950.","journal-title":"FASEB J"},{"key":"358_CR49","doi-asserted-by":"publisher","first-page":"1085","DOI":"10.1001\/archpsyc.59.12.1085","volume":"59","author":"S Leonard","year":"2002","unstructured":"Leonard S, Gault J, Hopkins J, Logel J, Vianzon R, Short M, Drebing C, Berger R, Venn D, Sirota P, Zerbe G, Olincy A, Ross RG, Adler LE, Freedman R: Association of promoter variants in the alpha7 nicotinic acetylcholine receptor subunit gene with an inhibitory deficit found in schizophrenia. Arch Gen Psychiatry. 2002, 59: 1085-1096. 10.1001\/archpsyc.59.12.1085.","journal-title":"Arch Gen Psychiatry"},{"key":"358_CR50","doi-asserted-by":"publisher","first-page":"39","DOI":"10.1002\/ajmg.b.20061","volume":"123","author":"J Gault","year":"2003","unstructured":"Gault J, Hopkins J, Berger R, Drebing C, Logel J, Walton C, Short M, Vianzon R, Olincy A, Ross RG, Adler LE, Freedman R, Leonard S: Comparison of polymorphisms in the alpha7 nicotinic receptor gene and its partial duplication in schizophrenic and control subjects. Am J Med Genet B Neuropsychiatr Genet. 2003, 123: 39-49. 10.1002\/ajmg.b.20061.","journal-title":"Am J Med Genet B Neuropsychiatr Genet"},{"key":"358_CR51","doi-asserted-by":"publisher","first-page":"320","DOI":"10.1038\/sj.mp.4001443","volume":"9","author":"E Houy","year":"2004","unstructured":"Houy E, Raux G, Thibaut F, Belmont A, Demily C, Allio G, Haouzir S, Fouldrin G, Petit M, Frebourg T, Campion D: The promoter-194 C polymorphism of the nicotinic alpha 7 receptor gene has a protective effect against the P50 sensory gating deficit. Mol Psychiatry. 2004, 9: 320-322. 10.1038\/sj.mp.4001443.","journal-title":"Mol Psychiatry"},{"key":"358_CR52","unstructured":"Website title. [http:\/\/www.ensembl.org\/Mus_musculus\/]"},{"key":"358_CR53","unstructured":"Website title. [http:\/\/www.ncbi.nlm.nih.gov\/BLAST\/]"},{"key":"358_CR54","unstructured":"Website title. [http:\/\/www.repeatmasker.org\/]"}],"container-title":["BMC Genomics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/1471-2164-6-157.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1186\/1471-2164-6-157\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/1471-2164-6-157.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,9,1]],"date-time":"2021-09-01T02:57:59Z","timestamp":1630465079000},"score":1,"resource":{"primary":{"URL":"https:\/\/bmcgenomics.biomedcentral.com\/articles\/10.1186\/1471-2164-6-157"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,11,9]]},"references-count":54,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2005,12]]}},"alternative-id":["358"],"URL":"https:\/\/doi.org\/10.1186\/1471-2164-6-157","relation":{},"ISSN":["1471-2164"],"issn-type":[{"value":"1471-2164","type":"electronic"}],"subject":[],"published":{"date-parts":[[2005,11,9]]},"assertion":[{"value":"14 July 2005","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"9 November 2005","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"9 November 2005","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}}],"article-number":"157"}}