James S. Sutcliffe, Ph.D.

Associate Professor


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Faculty Appointments
Associate Professor of Molecular Physiology and Biophysics Associate Professor of Psychiatry and Behavioral Sciences
Ph.D., Biochemistry & Human Genetics, Emory University, Atlanta, GeorgiaB.S., Biochemistry, Auburn University, Auburn, Alabama
Office Address
6133 MRB 3
Molecular Neuroscience
465 21st Ave S.
Nashville, TN 37232-8548
Research Description
Autism is a neurodevelopmental disorder affecting approximately 1 per 500 children. The broader autism spectrum of pervasive developmental disorders may have a current prevalene as high as 1 in 150. Autism exhibits a complex genetic etiology with significant clinical and locus heterogeneity. Alleles at up to twenty genes may combine in some unknown way to produce the overall risk for development of this disorder in any one individual or family.

Our web site on autism and ongoing studies is at http://autismgenes.org

We are dissecting the genetics of autism using a combination of molecular and statistical genetic approaches, informed by the altered physiology and neurodevelopment observed in patients. We are using state of the art methods to identify genetic effects using linkage and allelic association analyses, as well as testing for potential for gene-gene or epigenetic effects that may play a role in disease susceptibility. Additionally, we are dissecting the autism phenotype by using genetically-relevant traits that represent subphenotypes of this clinically variable disorder. Quantitative traits may be particularly useful in identifying loci that contribute to specific aspects of the phenotype rather than the phenotype overall.

Several candidate regions are the focus of ongoing study. One such interval in chromosome 15q11-q13 has been implicated in autism-spectrum phenotypes based on observations of chromosomal duplications leading to increased gene copy for this region. Potential maternal-specificity of the duplication origin and increasing severity of phenotype with increasing gene copy imply involvement of genomic imprinting and gene dosage effects. This chromosomal region harbors genes involved in two other neurobehavioral phenotypes (Prader-Willi syndrome and Angelman syndrome), which exhibit opposite patterns of genomic imprinting and features in common with autism. Candidate gene and linkage studies have yielded evidence for involvement of this region in susceptibility for development of autism in families without chromosomal abnormalities. Functional candidate genes in the relevant 15q11-q13 interval include a cluster of gamma-aminobutyric acid (GABA) receptor subunits (beta3, alpha5 and gamma3), the E6-AP ubiquitin-protein ligase (UBE3A) gene, also responsible for Angelman syndrome. This region is also a prime candidate for involvement of some epigenetic phenomenon that will be difficult to identify using standard approaches.

Other candidate regions we are studying include chromosomes 17q11 and 19p. These and other regions were detected by genomic linkage in autism families and all contain genes which are thought to be highly relevant to the known neurobiology of autism. A notable example is the serotonin transporter gene (SLC6A4), which maps to 17q11.2 and has long been considered an excellent functional candidate gene in autism and other neuropsychiatric disorders. Finally, we are pursuing candidate genes in neuronal systems thought to be important in autism, including serotonin, glutamate, and several others. Our approach is to examine genes and intervals using a combination of genetic linkage and high-resolution allelic association studies in autism families and through direct screening for disease-specific mutations. As disease-associated alleles are identified, we will identify the specific susceptibility variant and determine how it affects gene expression or protein function using various in vitro and in vivo (e.g. mouse models) strategies.
Research Keywords
Genetic basis of autism spectrum disorders; molecular genetics; statistical genetics; epigenetics, neuropsychiatric genetics; phenotypic dissection of complex genetic disorders (autism, anxiety, major depression, obsessive-compulsive disorder, and other related conditions)
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.

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.

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

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

Available Postdoctoral Position Details
Posted: 1/22/2013
The focus of this position is on the study of complex human neuropsychiatric diseases, particularly autism spectrum disorders. A combination of advanced molecular and statistical genetic methods are being applied to identify genes, and in particular susceptibility or risk-associated alleles at these genes, to identify loci of main effect as well as those which may exhibit gene-gene or allelic interaction with loci elsewhere in the genome. While our current focus is on autism, a pending grant application relates to the pharmacogenetics of major depression. This position entails interaction between investigators, students and post-docs in the fields of molecular and statistical genetics, neuroscience, and clinicians or clinical (or phenotype-oriented) researchers to develop methods to relate trait-based subsets of complex phenotypes like autism and depression to their ultimate genotype-phenotype relationships.

Postdoctoral applicants should be eligible for NIH trainiing grant support