Department of Psychiatry and Behavioral Sciences

Sutcliffe JS. Affiliative behaviors and beyond: it's the phenotype, stupid. Biol. Psychiatry. 2008 May 5/15/2008; 63(10): 909-10. PMID: 18452756, PII: S0006-3223(08)00393-4, DOI: 10.1016/j.biopsych.2008.03.027, ISSN: 1873-2402.
Sutcliffe JS. Genetics. Insights into the pathogenesis of autism. Science. 2008 Jul 7/11/2008; 321(5886): 208-9. PMID: 18621658, PII: 321/5886/208, DOI: 10.1126/science.1160555, ISSN: 1095-9203.

Autism Genome Project Consortium (JS Sutcliffe and others):. Mapping autism risk loci using genetic linkage and chromosomal rearrangements.. Nat Genet. 2007; 39: 319-28.

Weiss LA, Kosova G, Delahanty RJ, Jiang L, Cook Jr EH, Ober C and Sutcliffe JS. Variation in ITGB3 is associated with whole blood serotonin level and autism susceptibility. Eur J Hum Genet. 2006; in press.
Rabionet K, McCauley JL, Jawarski JM, Ashley-Kock AE, Martin ER, Sutcliffe JS, Haines JL, DeLong GR, Abramson RK, Wright HH, Cuccaro ML, Gilbert JR, Pericak-Vance MA:. No association between autism and SLC25A12. Am J Psychiatry. 2006; 163: 929-31.
Ma S, Abou-Khalil B, Blair MA, Sutcliffe JS, Haines JL, Hedera P. Mutations in GABRA1, GABRA5, GABRG2 and GABRD receptor genes are not a major factor in the pathogenesis of familial focal epilepsy preceded by febrile seizures. Neurosci. Lett [print-electronic]. 2006 Feb 2/6/2006; 394(1): 74-8. PMID: 16256272, PII: S0304-3940(05)01156-0, DOI: 10.1016/j.neulet.2005.10.006, ISSN: 0304-3940.
Campbell DB, Sutcliffe JS, Ebert PJ, Militerni R, Bravaccio C, Trillo S, Elia M, Schneider C, Melmed R, Sacco R, Persico AM, Levitt P. A genetic variant that disrupts MET transcription is associated with autism. Proc. Natl. Acad. Sci. U.S.A [print-electronic]. 2006 Nov 11/7/2006; 103(45): 16834-9. PMID: 17053076, PMCID: PMC1838551, PII: 0605296103, DOI: 10.1073/pnas.0605296103, ISSN: 0027-8424.

McCauley JL, Li C, Jiang L, Olson LM, Crockett G, Gainer K, Folstein SE, Haines JL, Sutcliffe JS:. Genome-wide and Ordered-Subset linkage analyses provide support for autism loci on 17q and 19p with evidence of phenotypic and interlocus genetic correlates. 2005.
Prasad HC, Zhu C-B, McCauley JL, Shelton R, Hewlett WA, Sutcliffe JS and Blakely RD:. Human serotonin transporter coding variants display selective insensitivity to Protein Kinase G and p38 Mitogen Activated Protein Kinase. Proc Natl Acad Sci USA. 2005; 102((32)): 11545-50.
McCauley JL, Li C, Jiang L, Olson LM, Crockett G, Gainer K, Folstein SE, Haines JL, Sutcliffe JS. Genome-wide and Ordered-Subset linkage analyses provide support for autism loci on 17q and 19p with evidence of phenotypic and interlocus genetic correlates. BMC Med. Genet. 2005 Jan 1/12/2005; 6: 1. PMID: 15647115, PMCID: PMC546213, PII: 1471-2350-6-1, DOI: 10.1186/1471-2350-6-1, ISSN: 1471-2350.
Ma S, Abou-Khalil B, Sutcliffe JS, Haines JL, Hedera P. The GABBR1 locus and the G1465A variant is not associated with temporal lobe epilepsy preceded by febrile seizures. BMC Med. Genet. 2005 Mar 3/30/2005; 6: 13. PMID: 15799783, PMCID: PMC1079842, PII: 1471-2350-6-13, DOI: 10.1186/1471-2350-6-13, ISSN: 1471-2350.
Skaar DA, Shao Y, Haines JL, Stenger JE, Jaworski J, Martin ER, DeLong GR, Moore JH, McCauley JL, Sutcliffe JS, Ashley-Koch AE, Cuccaro ML, Folstein SE, Gilbert JR, Pericak-Vance MA. Analysis of the RELN gene as a genetic risk factor for autism. Mol. Psychiatry. 2005 Jun; 10(6): 563-71. PMID: 15558079, PII: 4001614, DOI: 10.1038/sj.mp.4001614, ISSN: 1359-4184.
Sutcliffe JS, Delahanty RJ, Prasad HC, McCauley JL, Han Q, Jiang L, Li C, Folstein SE, Blakely RD. Allelic heterogeneity at the serotonin transporter locus (SLC6A4) confers susceptibility to autism and rigid-compulsive behaviors. Am. J. Hum. Genet [print-electronic]. 2005 Aug; 77(2): 265-79. PMID: 15995945, PMCID: PMC1224529, PII: S0002-9297(07)62916-4, DOI: 10.1086/432648, ISSN: 0002-9297.
Prasad HC, Zhu CB, McCauley JL, Samuvel DJ, Ramamoorthy S, Shelton RC, Hewlett WA, Sutcliffe JS, Blakely RD. Human serotonin transporter variants display altered sensitivity to protein kinase G and p38 mitogen-activated protein kinase. Proc. Natl. Acad. Sci. U.S.A [print-electronic]. 2005 Aug 8/9/2005; 102(32): 11545-50. PMID: 16055563, PMCID: PMC1183547, PII: 0501432102, DOI: 10.1073/pnas.0501432102, ISSN: 0027-8424.

Dykens EM, Sutcliffe JS, Levitt P. Autism and 15q11-q13 disorders: behavioral, genetic, and pathophysiological issues. Ment Retard Dev Disabil Res Rev. 2004; 10(4): 284-91. PMID: 15666333, DOI: 10.1002/mrdd.20042, ISSN: 1080-4013.
McCauley JL, Olson LM, Amin T, Organ EL, Folstein SE, Haines JL and Sutcliffe JS:. A linkage disequilibrium map of the 1-Mb 15q12 GABAA receptor subunit cluster and association to autism. Am J Med Genet (B). 2004; 131((B)): 55-9.
Hedera P, Abou-Khalil B, Crunk AE, Taylor KA, Haines JL, Sutcliffe JS. Autosomal dominant lateral temporal epilepsy: two families with novel mutations in the LGI1 gene. Epilepsia. 2004 Mar; 45(3): 218-22. PMID: 15009222, ISSN: 0013-9580.
Hutcheson HB, Olson LM, Bradford Y, Folstein SE, Santangelo SL, Sutcliffe JS, Haines JL. Examination of NRCAM, LRRN3, KIAA0716, and LAMB1 as autism candidate genes. BMC Med. Genet. 2004 May 5/5/2004; 5: 12. PMID: 15128462, PMCID: PMC420465, PII: 1471-2350-5-12, DOI: 10.1186/1471-2350-5-12, ISSN: 1471-2350.
McCauley JL, Olson LM, Dowd M, Amin T, Steele A, Blakely RD, Folstein SE, Haines JL, Sutcliffe JS. Linkage and association analysis at the serotonin transporter (SLC6A4) locus in a rigid-compulsive subset of autism. Am. J. Med. Genet. B Neuropsychiatr. Genet. 2004 May 5/15/2004; 127B(1): 104-12. PMID: 15108191, DOI: 10.1002/ajmg.b.20151, ISSN: 1552-4841.
McCauley JL, Olson LM, Delahanty R, Amin T, Nurmi EL, Organ EL, Jacobs MM, Folstein SE, Haines JL, Sutcliffe JS. A linkage disequilibrium map of the 1-Mb 15q12 GABA(A) receptor subunit cluster and association to autism. Am. J. Med. Genet. B Neuropsychiatr. Genet. 2004 Nov 11/15/2004; 131B(1): 51-9. PMID: 15389768, DOI: 10.1002/ajmg.b.30038, ISSN: 1552-4841.
Rabionet R, Jaworski JM, Ashley-Koch AE, Martin ER, Sutcliffe JS, Haines JL, Delong GR, Abramson RK, Wright HH, Cuccaro ML, Gilbert JR, Pericak-Vance MA. Analysis of the autism chromosome 2 linkage region: GAD1 and other candidate genes. Neurosci. Lett. 2004 Dec 12/6/2004; 372(3): 209-14. PMID: 15542242, PII: S0304-3940(04)01172-3, DOI: 10.1016/j.neulet.2004.09.037, ISSN: 0304-3940.

Matsumura M, Kubota T, Hidaka E, Wakui K, Kadowaki S, Ueta I, Shimizu T, Ueno I, Yamauchi K, Herzing LB, Nurmi EL, Sutcliffe JS, Fukushima Y, Katsuyama T. 'Severe' Prader-Willi syndrome with a large deletion of chromosome 15 due to an unbalanced t(15,22)(q14;q11.2) translocation. Clin. Genet. 2003 Jan; 63(1): 79-81. PMID: 12519378, PII: cge630114, ISSN: 0009-9163.
Hutcheson HB, Bradford Y, Folstein SE, Gardiner MB, Santangelo SL, Sutcliffe JS, Haines JL. Defining the autism minimum candidate gene region on chromosome 7. Am. J. Med. Genet. B Neuropsychiatr. Genet. 2003 Feb; 117B(1): 90-6. PMID: 12555242, DOI: 10.1002/ajmg.b.10033, ISSN: 1552-4841.
Sutcliffe JS, Nurmi EL, Lombroso PJ. Genetics of childhood disorders: XLVII. Autism, part 6: duplication and inherited susceptibility of chromosome 15q11-q13 genes in autism. J Am Acad Child Adolesc Psychiatry. 2003 Feb; 42(2): 253-6. PMID: 12544187, PII: S0890-8567(09)61190-4, DOI: 10.1097/00004583-200302000-00021, ISSN: 0890-8567.
Sutcliffe JS, Han MK, Amin T, Kesterson RA, Nurmi EL. Partial duplication of the APBA2 gene in chromosome 15q13 corresponds to duplicon structures. BMC Genomics [print-electronic]. 2003 Apr 4/29/2003; 4(1): 15. PMID: 12720574, PMCID: PMC156605, DOI: 10.1186/1471-2164-4-15, ISSN: 1471-2164.
Nurmi EL, Amin T, Olson LM, Jacobs MM, McCauley JL, Lam AY, Organ EL, Folstein SE, Haines JL, Sutcliffe JS. Dense linkage disequilibrium mapping in the 15q11-q13 maternal expression domain yields evidence for association in autism. Mol. Psychiatry. 2003 Jun; 8(6): 624-34, 570. PMID: 12851639, PII: 4001283, DOI: 10.1038/sj.mp.4001283, ISSN: 1359-4184.
Nurmi EL, Dowd M, Tadevosyan-Leyfer O, Haines JL, Folstein SE, Sutcliffe JS. Exploratory subsetting of autism families based on savant skills improves evidence of genetic linkage to 15q11-q13. J Am Acad Child Adolesc Psychiatry. 2003 Jul; 42(7): 856-63. PMID: 12819446, PII: S0890-8567(09)60986-2, DOI: 10.1097/01.CHI.0000046868.56865.0F, ISSN: 0890-8567.

Joseph B, Egli M, Sutcliffe JS, Thompson T. Possible dosage effect of maternally expressed genes on visual recognition memory in Prader-Willi syndrome. Am. J. Med. Genet. 2001 Jan 1/8/2001; 105(1): 71-5. PMID: 11425004, PII: 10.1002/1096-8628(20010108)105:1<71::AID-AJMG1065>3.0.CO;2-8, ISSN: 0148-7299.
Nurmi EL, Bradford Y, Chen Y, Hall J, Arnone B, Gardiner MB, Hutcheson HB, Gilbert JR, Pericak-Vance MA, Copeland-Yates SA, Michaelis RC, Wassink TH, Santangelo SL, Sheffield VC, Piven J, Folstein SE, Haines JL, Sutcliffe JS. Linkage disequilibrium at the Angelman syndrome gene UBE3A in autism families. Genomics. 2001 Sep; 77(1-2): 105-13. PMID: 11543639, PII: S0888754301966170, DOI: 10.1006/geno.2001.6617, ISSN: 0888-7543.
Abou-Khalil B, Ge Q, Desai R, Ryther R, Bazyk A, Bailey R, Haines JL, Sutcliffe JS, George AL. Partial and generalized epilepsy with febrile seizures plus and a novel SCN1A mutation. Neurology. 2001 Dec 12/26/2001; 57(12): 2265-72. PMID: 11756608, ISSN: 0028-3878.

Dimitropoulos A, Feurer ID, Roof E, Stone W, Butler MG, Sutcliffe J, Thompson T. Appetitive behavior, compulsivity, and neurochemistry in Prader-Willi syndrome. Ment Retard Dev Disabil Res Rev. 2000; 6(2): 125-30. PMID: 10899805, PII: 10.1002/1098-2779(2000)6:2<125::AID-MRDD6>3.0.CO;2-T, DOI: 10.1002/1098-2779(2000)6:2<125::AID-MRDD6>3.0.CO;2-T, ISSN: 1080-4013.

Fang P, Lev-Lehman E, Tsai TF, Matsuura T, Benton CS, Sutcliffe JS, Christian SL, Kubota T, Halley DJ, Meijers-Heijboer H, Langlois S, Graham JM, Beuten J, Willems PJ, Ledbetter DH, Beaudet AL. The spectrum of mutations in UBE3A causing Angelman syndrome. Hum. Mol. Genet. 1999 Jan; 8(1): 129-35. PMID: 9887341, PII: ddc015, ISSN: 0964-6906.

Christian SL, Bhatt NK, Martin SA, Sutcliffe JS, Kubota T, Huang B, Mutirangura A, Chinault AC, Beaudet AL, Ledbetter DH. Integrated YAC contig map of the Prader-Willi/Angelman region on chromosome 15q11-q13 with average STS spacing of 35 kb. Genome Res. 1998 Feb; 8(2): 146-57. PMID: 9477342, PMCID: PMC310691, ISSN: 1088-9051.

Matsuura T, Sutcliffe JS, Fang P, Galjaard RJ, Jiang YH, Benton CS, Rommens JM, Beaudet AL. De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome. Nat. Genet. 1997 Jan; 15(1): 74-7. PMID: 8988172, DOI: 10.1038/ng0197-74, ISSN: 1061-4036.
Sutcliffe JS, Jiang YH, Galijaard RJ, Matsuura T, Fang P, Kubota T, Christian SL, Bressler J, Cattanach B, Ledbetter DH, Beaudet AL. The E6-Ap ubiquitin-protein ligase (UBE3A) gene is localized within a narrowed Angelman syndrome critical region [letter]. Genome Res. 1997 Apr; 7(4): 368-77. PMID: 9110176, PMCID: PMC139148, ISSN: 1088-9051.
Huq AH, Sutcliffe JS, Nakao M, Shen Y, Gibbs RA, Beaudet AL. Sequencing and functional analysis of the SNRPN promoter: in vitro methylation abolishes promoter activity [letter]. Genome Res. 1997 Jun; 7(6): 642-8. PMID: 9199937, PMCID: PMC310659, ISSN: 1088-9051.
Albrecht U, Sutcliffe JS, Cattanach BM, Beechey CV, Armstrong D, Eichele G, Beaudet AL. Imprinted expression of the murine Angelman syndrome gene, Ube3a, in hippocampal and Purkinje neurons. Nat. Genet. 1997 Sep; 17(1): 75-8. PMID: 9288101, DOI: 10.1038/ng0997-75, ISSN: 1061-4036.
Sutcliffe JS, Han M, Christian SL, Ledbetter DH. Neuronally-expressed necdin gene: an imprinted candidate gene in Prader-Willi syndrome [letter]. Lancet. 1997 Nov 11/22/1997; 350(9090): 1520-1. PMID: 9388406, PII: S0140-6736(05)63943-8, DOI: 10.1016/S0140-6736(05)63943-8, ISSN: 0140-6736.

Nakao M, Sutcliffe JS, Beaudet AL. Advantages of RT-PCR and denaturing gradient gel electrophoresis for analysis of genomic imprinting: detection of new mouse and human expressed polymorphisms. Hum. Mutat. 1996; 7(2): 144-8. PMID: 8829631, PII: 10.1002/(SICI)1098-1004(1996)7:2<144::AID-HUMU8>3.0.CO;2-C, DOI: 10.1002/(SICI)1098-1004(1996)7:2<144::AID-HUMU8>3.0.CO;2-C, ISSN: 1059-7794.
Beuten J, Hennekam RC, Van Roy B, Mangelschots K, Sutcliffe JS, Halley DJ, Hennekam FA, Beaudet AL, Willems PJ. Angelman syndrome in an inbred family. Hum. Genet. 1996 Mar; 97(3): 294-8. PMID: 8786067, ISSN: 0340-6717.
Beuten J, Sutcliffe JS, Casey BM, Beaudet AL, Hennekam RC, Willems PJ. Detection of imprinting mutations in Angelman syndrome using a probe for exon alpha of SNRPN [letter]. Am. J. Med. Genet. 1996 May 5/17/1996; 63(2): 414-5. PMID: 8725798, DOI: 10.1002/ajmg.1320630206, ISSN: 0148-7299.
Ning Y, Roschke A, Christian SL, Lesser J, Sutcliffe JS, Ledbetter DH. Identification of a novel paternally expressed transcript adjacent to snRPN in the Prader-Willi syndrome critical region. Genome Res. 1996 Aug; 6(8): 742-6. PMID: 8858349, ISSN: 1088-9051.
Jinno Y, Sengoku K, Nakao M, Tamate K, Miyamoto T, Matsuzaka T, Sutcliffe JS, Anan T, Takuma N, Nishiwaki K, Ikeda Y, Ishimaru T, Ishikawa M, Niikawa N. Mouse/human sequence divergence in a region with a paternal-specific methylation imprint at the human H19 locus. Hum. Mol. Genet. 1996 Aug; 5(8): 1155-61. PMID: 8842735, PII: 6w0089, ISSN: 0964-6906.
Kubota T, Sutcliffe JS, Aradhya S, Gillessen-Kaesbach G, Christian SL, Horsthemke B, Beaudet AL, Ledbetter DH. Validation studies of SNRPN methylation as a diagnostic test for Prader-Willi syndrome. Am. J. Med. Genet. 1996 Dec 12/2/1996; 66(1): 77-80. PMID: 8957518, PII: 10.1002/(SICI)1096-8628(19961202)66:1<77::AID-AJMG18>3.0.CO;2-N, DOI: 10.1002/(SICI)1096-8628(19961202)66:1<77::AID-AJMG18>3.0.CO;2-N, ISSN: 0148-7299.

Gunaratne PH, Nakao M, Ledbetter DH, Sutcliffe JS, Chinault AC. Tissue-specific and allele-specific replication timing control in the imprinted human Prader-Willi syndrome region. Genes Dev. 1995 Apr 4/1/1995; 9(7): 808-20. PMID: 7705658, ISSN: 0890-9369.

Nakao M, Sutcliffe JS, Durtschi B, Mutirangura A, Ledbetter DH, Beaudet AL. Imprinting analysis of three genes in the Prader-Willi/Angelman region: SNRPN, E6-associated protein, and PAR-2 (D15S225E). Hum. Mol. Genet. 1994 Feb; 3(2): 309-15. PMID: 8004100, ISSN: 0964-6906.
Sutcliffe JS, Nakao M, Christian S, Orstavik KH, Tommerup N, Ledbetter DH, Beaudet AL. Deletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control region. Nat. Genet. 1994 Sep; 8(1): 52-8. PMID: 7987392, DOI: 10.1038/ng0994-52, ISSN: 1061-4036.

Hinds HL, Ashley CT, Sutcliffe JS, Nelson DL, Warren ST, Housman DE, Schalling M. Tissue specific expression of FMR-1 provides evidence for a functional role in fragile X syndrome. Nat. Genet. 1993 Jan; 3(1): 36-43. PMID: 8490651, DOI: 10.1038/ng0193-36, ISSN: 1061-4036.
Ashley CT, Sutcliffe JS, Kunst CB, Leiner HA, Eichler EE, Nelson DL, Warren ST. Human and murine FMR-1: alternative splicing and translational initiation downstream of the CGG-repeat. Nat. Genet. 1993 Jul; 4(3): 244-51. PMID: 8358432, DOI: 10.1038/ng0793-244, ISSN: 1061-4036.
Mutirangura A, Jayakumar A, Sutcliffe JS, Nakao M, McKinney MJ, Buiting K, Horsthemke B, Beaudet AL, Chinault AC, Ledbetter DH. A complete YAC contig of the Prader-Willi/Angelman chromosome region (15q11-q13) and refined localization of the SNRPN gene. Genomics. 1993 Dec; 18(3): 546-52. PMID: 8307564, ISSN: 0888-7543.

Riggins GJ, Sherman SL, Oostra BA, Sutcliffe JS, Feitell D, Nelson DL, van Oost BA, Smits AP, Ramos FJ, Pfendner E. Characterization of a highly polymorphic dinucleotide repeat 150 KB proximal to the fragile X site. Am. J. Med. Genet. 1992 Apr 4/15/1992; 43(1-2): 237-43. PMID: 1605197, ISSN: 0148-7299.
Sutcliffe JS, Zhang F, Caskey CT, Nelson DL, Warren ST. PCR amplification and analysis of yeast artificial chromosomes. Genomics. 1992 Aug; 13(4): 1303-6. PMID: 1380485, ISSN: 0888-7543.
Sutcliffe JS, Nelson DL, Zhang F, Pieretti M, Caskey CT, Saxe D, Warren ST. DNA methylation represses FMR-1 transcription in fragile X syndrome. Hum. Mol. Genet. 1992 Sep; 1(6): 397-400. PMID: 1301913, ISSN: 0964-6906.

Verkerk AJ, Pieretti M, Sutcliffe JS, Fu YH, Kuhl DP, Pizzuti A, Reiner O, Richards S, Victoria MF, Zhang FP. Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell. 1991 May 5/31/1991; 65(5): 905-14. PMID: 1710175, PII: 0092-8674(91)90397-H, ISSN: 0092-8674.
Robinson MJ, Martin BA, Gootz TD, McGuirk PR, Moynihan M, Sutcliffe JA, Osheroff N. Effects of quinolone derivatives on eukaryotic topoisomerase II. A novel mechanism for enhancement of enzyme-mediated DNA cleavage. J. Biol. Chem. 1991 Aug 8/5/1991; 266(22): 14585-92. PMID: 1650363, ISSN: 0021-9258.
Fu YH, Kuhl DP, Pizzuti A, Pieretti M, Sutcliffe JS, Richards S, Verkerk AJ, Holden JJ, Fenwick RG, Warren ST. Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox. Cell. 1991 Dec 12/20/1991; 67(6): 1047-58. PMID: 1760838, PII: 0092-8674(91)90283-5, ISSN: 0092-8674.

Warren ST, Zhang FP, Sutcliffe JS, Peters JF. Strategy for molecular cloning of the fragile X site DNA. Am. J. Med. Genet. 1988 May; 30(1-2): 613-23. PMID: 3177473, ISSN: 0148-7299.

James Sutcliffe, Ph.D.

Selected Publications