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    Nadav Ahituv, PhD

    TitleAssociate Professor
    SchoolUCSF School of Pharmacy
    Address1550 4th Street, Bldg 19B
    San Francisco CA 94158
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      Collapse Biography 
      Collapse Awards and Honors
      Tel-Aviv University2002 - 2002Ph.D. with distinction
      The American Society for Clinical Pharmacology and Therapeutics2014 - 2014ASCPT Leon I. Goldberg young investigator award

      Collapse Overview 
      Collapse Overview
      The Ahituv lab is focused on understanding the role of regulatory sequences in human biology and disease. Through a combination of comparative genomic strategies, biochemical assays, regulatory element analysis, human patient samples, mouse and fish genetic engineering technologies, and massively parallel reporter assays they are working to elucidate mechanisms whereby genetic variation within these sequences lead to changes in human phenotypes.

      Collapse Interests
      Human genetics, genomics, comparative genomics, gene regulation, noncoding DNA, enhancers, limb malformations, obesity, epilepsy, autism, scoliosis, mouse models, zebrafish, pharmacogenomics

      Collapse ORNG Applications 
      Collapse Websites
      Collapse NIH Awarded Grants
      Collapse Global Health

      Collapse Bibliographic 
      Collapse Publications
      Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Researchers can login to make corrections and additions, or contact us for help.
      List All   |   Timeline
      1. Booker BM, Friedrich T, Mason MK, VanderMeer JE, Zhao J, Eckalbar WL, Logan M, Illing N, Pollard KS, Ahituv N. Bat Accelerated Regions Identify a Bat Forelimb Specific Enhancer in the HoxD Locus. PLoS Genet. 2016 Mar; 12(3):e1005738. PMID: 27019019.
        View in: PubMed
      2. Eckalbar WL, Schlebusch SA, Mason MK, Gill Z, Parker AV, Booker BM, Nishizaki S, Muswamba-Nday C, Terhune E, Nevonen KA, Makki N, Friedrich T, VanderMeer JE, Pollard KS, Carbone L, Wall JD, Illing N, Ahituv N. Transcriptomic and epigenomic characterization of the developing bat wing. Nat Genet. 2016 May; 48(5):528-36. PMID: 27019111.
        View in: PubMed
      3. Ahituv N. Exonic enhancers: proceed with caution in exome and genome sequencing studies. Genome Med. 2016; 8(1):14. PMID: 26856702.
        View in: PubMed
      4. Jorgenson E, Makki N, Shen L, Chen DC, Tian C, Eckalbar WL, Hinds D, Ahituv N, Avins A. A genome-wide association study identifies four novel susceptibility loci underlying inguinal hernia. Nat Commun. 2015; 6:10130. PMID: 26686553.
        View in: PubMed
      5. Matharu N, Ahituv N. Minor Loops in Major Folds: Enhancer-Promoter Looping, Chromatin Restructuring, and Their Association with Transcriptional Regulation and Disease. PLoS Genet. 2015 Dec; 11(12):e1005640. PMID: 26632825.
        View in: PubMed
      6. Hesse RG, Kouklis GK, Ahituv N, Pomerantz JH. The human ARF tumor suppressor senses blastema activity and suppresses epimorphic tissue regeneration. Elife. 2015; 4. PMID: 26575287.
        View in: PubMed
      7. Luizon MR, Ahituv N. Uncovering drug-responsive regulatory elements. Pharmacogenomics. 2015 Nov; 16(16):1829-41. PMID: 26555224.
        View in: PubMed
      8. Yang S, Oksenberg N, Takayama S, Heo SJ, Poliakov A, Ahituv N, Dubchak I, Boffelli D. Functionally conserved enhancers with divergent sequences in distant vertebrates. BMC Genomics. 2015; 16(1):882. PMID: 26519295.
        View in: PubMed
      9. Tapaltsyan V, Charles C, Hu J, Mindell D, Ahituv N, Wilson GM, Black BL, Viriot L, Klein OD, et al. Identification of novel Fgf enhancers and their role in dental evolution. Evol Dev. 2015 Jun 18. PMID: 26086993.
        View in: PubMed
      10. Inoue F, Ahituv N. Decoding enhancers using massively parallel reporter assays. Genomics. 2015 Sep; 106(3):159-64. PMID: 26072433.
        View in: PubMed
      11. Sharma S, Londono D, Eckalbar WL, Gao X, Zhang D, Mauldin K, Kou I, Takahashi A, Matsumoto M, Kamiya N, Murphy KK, Cornelia R, Herring JA, Burns D, Ahituv N, Ikegawa S, Gordon D, Wise CA. A PAX1 enhancer locus is associated with susceptibility to idiopathic scoliosis in females. Nat Commun. 2015; 6:6452. PMID: 25784220.
        View in: PubMed
      12. Birnbaum RY, Patwardhan RP, Kim MJ, Findlay GM, Martin B, Zhao J, Bell RJ, Smith RP, Ku AA, Shendure J, Ahituv N. Systematic dissection of coding exons at single nucleotide resolution supports an additional role in cell-specific transcriptional regulation. PLoS Genet. 2014 Oct; 10(10):e1004592. PMID: 25340400; PMCID: PMC4207465.
      13. Markenscoff-Papadimitriou E, Allen WE, Colquitt BM, Goh T, Murphy KK, Monahan K, Mosley CP, Ahituv N, Lomvardas S. Enhancer interaction networks as a means for singular olfactory receptor expression. Cell. 2014 Oct 23; 159(3):543-57. PMID: 25417106; PMCID: PMC4243057 [Available on 10/23/15].
      14. Smith RP, Eckalbar WL, Morrissey KM, Luizon MR, Hoffmann TJ, Sun X, Jones SL, Force Aldred S, Ramamoorthy A, Desta Z, Liu Y, Skaar TC, Trinklein ND, Giacomini KM, Ahituv N. Genome-wide discovery of drug-dependent human liver regulatory elements. PLoS Genet. 2014 Oct; 10(10):e1004648. PMID: 25275310; PMCID: PMC4183418.
      15. VanderMeer JE, Smith RP, Jones SL, Ahituv N. Genome-wide identification of signaling center enhancers in the developing limb. Development. 2014 Nov; 141(21):4194-8. PMID: 25273087.
        View in: PubMed
      16. Oksenberg N, Haliburton GD, Eckalbar WL, Oren I, Nishizaki S, Murphy K, Pollard KS, Birnbaum RY, Ahituv N. Genome-wide distribution of Auts2 binding localizes with active neurodevelopmental genes. Transl Psychiatry. 2014; 4:e431. PMID: 25180570; PMCID: PMC4199417.
      17. Erwin GD, Oksenberg N, Truty RM, Kostka D, Murphy KK, Ahituv N, Pollard KS, Capra JA. Integrating diverse datasets improves developmental enhancer prediction. PLoS Comput Biol. 2014 Jun; 10(6):e1003677. PMID: 24967590; PMCID: PMC4072507.
      18. VanderMeer JE, Lozano R, Sun M, Xue Y, Daentl D, Jabs EW, Wilcox WR, Ahituv N. A novel ZRS mutation leads to preaxial polydactyly type 2 in a heterozygous form and Werner mesomelic syndrome in a homozygous form. Hum Mutat. 2014 Aug; 35(8):945-8. PMID: 24777739; PMCID: PMC4110103.
      19. Laurell T, Nilsson D, Hofmeister W, Lindstrand A, Ahituv N, Vandermeer J, Amilon A, Annerén G, Arner M, Pettersson M, Jäntti N, Rosberg HE, Cattini PA, Nordenskjöld A, Mäkitie O, Grigelioniene G, Nordgren A. Identification of three novel FGF16 mutations in X-linked recessive fusion of the fourth and fifth metacarpals and possible correlation with heart disease. Mol Genet Genomic Med. 2014 Sep; 2(5):402-11. PMID: 25333065; PMCID: PMC4190875.
      20. Evans DS, Calton MA, Kim MJ, Kwok PY, Miljkovic I, Harris T, Koster A, Liu Y, Tranah GJ, Ahituv N, Hsueh WC, Vaisse C. Genetic association study of adiposity and melanocortin-4 receptor (MC4R) common variants: replication and functional characterization of non-coding regions. PLoS One. 2014; 9(5):e96805. PMID: 24820477; PMCID: PMC4018404.
      21. Zhang Y, Wong CH, Birnbaum RY, Li G, Favaro R, Ngan CY, Lim J, Tai E, Poh HM, Wong E, Mulawadi FH, Sung WK, Nicolis S, Ahituv N, Ruan Y, Wei CL. Chromatin connectivity maps reveal dynamic promoter-enhancer long-range associations. Nature. 2013 Dec 12; 504(7479):306-10. PMID: 24213634; PMCID: PMC3954713.
      22. Kim MJ, Oksenberg N, Hoffmann TJ, Vaisse C, Ahituv N. Functional characterization of SIM1-associated enhancers. Hum Mol Genet. 2014 Apr 1; 23(7):1700-8. PMID: 24203700; PMCID: PMC3943516 [Available on 04/01/15].
      23. Booker BM, Murphy KK, Ahituv N. Functional analysis of limb enhancers in the developing fin. Dev Genes Evol. 2013 Nov; 223(6):395-9. PMID: 24068387; PMCID: PMC3869458.
      24. Zhao J, Shi H, Ahituv N. Classification of topological domains based on gene expression and regulation. Genome. 2013 Jul; 56(7):415-23. PMID: 24099394; PMCID: PMC3873163.
      25. Oksenberg N, Ahituv N. The role of AUTS2 in neurodevelopment and human evolution. Trends Genet. 2013 Oct; 29(10):600-8. PMID: 24008202; PMCID: PMC3823538.
      26. Smith RP, Taher L, Patwardhan RP, Kim MJ, Inoue F, Shendure J, Ovcharenko I, Ahituv N. Massively parallel decoding of mammalian regulatory sequences supports a flexible organizational model. Nat Genet. 2013 Sep; 45(9):1021-8. PMID: 23892608; PMCID: PMC3775494.
      27. Smith RP, Riesenfeld SJ, Holloway AK, Li Q, Murphy KK, Feliciano NM, Orecchia L, Oksenberg N, Pollard KS, Ahituv N. A compact, in vivo screen of all 6-mers reveals drivers of tissue-specific expression and guides synthetic regulatory element design. Genome Biol. 2013; 14(7):R72. PMID: 23867016; PMCID: PMC4054837.
      28. Oksenberg N, Stevison L, Wall JD, Ahituv N. Function and regulation of AUTS2, a gene implicated in autism and human evolution. PLoS Genet. 2013; 9(1):e1003221. PMID: 23349641; PMCID: PMC3547868.
      29. Kim MJ, Ahituv N. The hydrodynamic tail vein assay as a tool for the study of liver promoters and enhancers. Methods Mol Biol. 2013; 1015:279-89. PMID: 23824863; PMCID: PMC4096022.
      30. Taher L, Smith RP, Kim MJ, Ahituv N, Ovcharenko I. Sequence signatures extracted from proximal promoters can be used to predict distal enhancers. Genome Biol. 2013; 14(10):R117. PMID: 24156763; PMCID: PMC3983659.
      31. Andersson LS, Larhammar M, Memic F, Wootz H, Schwochow D, Rubin CJ, Patra K, Arnason T, Wellbring L, Hjälm G, Imsland F, Petersen JL, McCue ME, Mickelson JR, Cothran G, Ahituv N, Roepstorff L, Mikko S, Vallstedt A, Lindgren G, Andersson L, Kullander K. Mutations in DMRT3 affect locomotion in horses and spinal circuit function in mice. Nature. 2012 Aug 30; 488(7413):642-6. PMID: 22932389; PMCID: PMC3523687.
      32. Birnbaum RY, Everman DB, Murphy KK, Gurrieri F, Schwartz CE, Ahituv N. Functional characterization of tissue-specific enhancers in the DLX5/6 locus. Hum Mol Genet. 2012 Nov 15; 21(22):4930-8. PMID: 22914741; PMCID: PMC3529576.
      33. Clarke SL, VanderMeer JE, Wenger AM, Schaar BT, Ahituv N, Bejerano G. Human developmental enhancers conserved between deuterostomes and protostomes. PLoS Genet. 2012; 8(8):e1002852. PMID: 22876195; PMCID: PMC3410860.
      34. VanderMeer JE, Afzal M, Alyas S, Haque S, Ahituv N, Malik S. A novel ZRS mutation in a Balochi tribal family with triphalangeal thumb, pre-axial polydactyly, post-axial polydactyly, and syndactyly. Am J Med Genet A. 2012 Aug; 158A(8):2031-5. PMID: 22786669; PMCID: PMC3402602.
      35. Lu W, Bacino CA, Richards BS, Alvarez C, VanderMeer JE, Vella M, Ahituv N, Sikka N, Dietz FR, Blanton SH, Hecht JT. Studies of TBX4 and chromosome 17q23.1q23.2: an uncommon cause of nonsyndromic clubfoot. Am J Med Genet A. 2012 Jul; 158A(7):1620-7. PMID: 22678995; PMCID: PMC3381434.
      36. Smith RP, Lam ET, Markova S, Yee SW, Ahituv N. Pharmacogene regulatory elements: from discovery to applications. Genome Med. 2012; 4(5):45. PMID: 22630332; PMCID: PMC3506911.
      37. Laurell T, Vandermeer JE, Wenger AM, Grigelioniene G, Nordenskjöld A, Arner M, Ekblom AG, Bejerano G, Ahituv N, Nordgren A. A novel 13 base pair insertion in the sonic hedgehog ZRS limb enhancer (ZRS/LMBR1) causes preaxial polydactyly with triphalangeal thumb. Hum Mutat. 2012 Jul; 33(7):1063-6. PMID: 22495965; PMCID: PMC3370115.
      38. Birnbaum RY, Clowney EJ, Agamy O, Kim MJ, Zhao J, Yamanaka T, Pappalardo Z, Clarke SL, Wenger AM, Nguyen L, Gurrieri F, Everman DB, Schwartz CE, Birk OS, Bejerano G, Lomvardas S, Ahituv N. Coding exons function as tissue-specific enhancers of nearby genes. Genome Res. 2012 Jun; 22(6):1059-68. PMID: 22442009; PMCID: PMC3371700.
      39. Patwardhan RP, Hiatt JB, Witten DM, Kim MJ, Smith RP, May D, Lee C, Andrie JM, Lee SI, Cooper GM, Ahituv N, Pennacchio LA, Shendure J. Massively parallel functional dissection of mammalian enhancers in vivo. Nat Biotechnol. 2012 Mar; 30(3):265-70. PMID: 22371081; PMCID: PMC3402344.
      40. Ahituv N. Location, location, cis-mutation. Hum Mutat. 2011 Dec; 32(12):iv. PMID: 22083934.
        View in: PubMed
      41. Kim MJ, Skewes-Cox P, Fukushima H, Hesselson S, Yee SW, Ramsey LB, Nguyen L, Eshragh JL, Castro RA, Wen CC, Stryke D, Johns SJ, Ferrin TE, Kwok PY, Relling MV, Giacomini KM, Kroetz DL, Ahituv N. Functional characterization of liver enhancers that regulate drug-associated transporters. Clin Pharmacol Ther. 2011 Apr; 89(4):571-8. PMID: 21368754; PMCID: PMC3227682.
      42. VanderMeer JE, Ahituv N. cis-regulatory mutations are a genetic cause of human limb malformations. Dev Dyn. 2011 May; 240(5):920-30. PMID: 21509892; PMCID: PMC3174732.
      43. Ha Choi J, Wah Yee S, Kim MJ, Nguyen L, Ho Lee J, Kang JO, Hesselson S, Castro RA, Stryke D, Johns SJ, Kwok PY, Ferrin TE, Goo Lee M, Black BL, Ahituv N, Giacomini KM. Identification and characterization of novel polymorphisms in the basal promoter of the human transporter, MATE1. Pharmacogenet Genomics. 2009 Oct; 19(10):770-80. PMID: 19745787; PMCID: PMC2976711.
      44. Kroetz DL, Ahituv N, Burchard EG, Guo S, Sali A, Giacomini KM. Institutional Profile: The University of California Pharmacogenomics Center: at the interface of genomics, biological mechanisms and drug therapy. Pharmacogenomics. 2009 Oct; 10(10):1569-76. PMID: 19842929; PMCID: PMC2923222.
      45. Yee SW, Shima JE, Hesselson S, Nguyen L, De Val S, Lafond RJ, Kawamoto M, Johns SJ, Stryke D, Kwok PY, Ferrin TE, Black BL, Gurwitz D, Ahituv N, Giacomini KM. Identification and characterization of proximal promoter polymorphisms in the human concentrative nucleoside transporter 2 (SLC28A2). J Pharmacol Exp Ther. 2009 Mar; 328(3):699-707. PMID: 19098160; PMCID: PMC2682268.
      46. Calton MA, Ersoy BA, Zhang S, Kane JP, Malloy MJ, Pullinger CR, Bromberg Y, Pennacchio LA, Dent R, McPherson R, Ahituv N, Vaisse C. Association of functionally significant Melanocortin-4 but not Melanocortin-3 receptor mutations with severe adult obesity in a large North American case-control study. Hum Mol Genet. 2009 Mar 15; 18(6):1140-7. PMID: 19091795; PMCID: PMC2649015.
      47. Svenson KL, Ahituv N, Durgin RS, Savage H, Magnani PA, Foreman O, Paigen B, Peters LL. A new mouse mutant for the LDL receptor identified using ENU mutagenesis. J Lipid Res. 2008 Nov; 49(11):2452-62. PMID: 18632552; PMCID: PMC2563210.
      48. Goren A, Kim E, Amit M, Bochner R, Lev-Maor G, Ahituv N, Ast G. Alternative approach to a heavy weight problem. Genome Res. 2008 Feb; 18(2):214-20. PMID: 18096750; PMCID: PMC2203619.
      49. Ahituv N, Akiyama J, Chapman-Helleboid A, Fruchart J, Pennacchio LA. In vivo characterization of human APOA5 haplotypes. Genomics. 2007 Dec; 90(6):674-9. PMID: 17936576.
        View in: PubMed
      50. Costford SR, Kavaslar N, Ahituv N, Chaudhry SN, Schackwitz WS, Dent R, Pennacchio LA, McPherson R, Harper ME. Gain-of-function R225W mutation in human AMPKgamma(3) causing increased glycogen and decreased triglyceride in skeletal muscle. PLoS One. 2007; 2(9):e903. PMID: 17878938; PMCID: PMC1964808.
      51. Ahituv N, Zhu Y, Visel A, Holt A, Afzal V, Pennacchio LA, Rubin EM. Deletion of ultraconserved elements yields viable mice. PLoS Biol. 2007 Sep; 5(9):e234. PMID: 17803355; PMCID: PMC1964772.
      52. Ahituv N, Kavaslar N, Schackwitz W, Ustaszewska A, Martin J, Hebert S, Doelle H, Ersoy B, Kryukov G, Schmidt S, Yosef N, Ruppin E, Sharan R, Vaisse C, Sunyaev S, Dent R, Cohen J, McPherson R, Pennacchio LA. Medical sequencing at the extremes of human body mass. Am J Hum Genet. 2007 Apr; 80(4):779-91. PMID: 17357083; PMCID: PMC1852707.
      53. Pennacchio LA, Ahituv N, Moses AM, Prabhakar S, Nobrega MA, Shoukry M, Minovitsky S, Dubchak I, Holt A, Lewis KD, Plajzer-Frick I, Akiyama J, De Val S, Afzal V, Black BL, Couronne O, Eisen MB, Visel A, Rubin EM. In vivo enhancer analysis of human conserved non-coding sequences. Nature. 2006 Nov 23; 444(7118):499-502. PMID: 17086198.
        View in: PubMed
      54. Bejerano G, Lowe CB, Ahituv N, King B, Siepel A, Salama SR, Rubin EM, Kent WJ, Haussler D. A distal enhancer and an ultraconserved exon are derived from a novel retroposon. Nature. 2006 May 4; 441(7089):87-90. PMID: 16625209.
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      55. Ahituv N, Kavaslar N, Schackwitz W, Ustaszewska A, Collier JM, Hébert S, Doelle H, Dent R, Pennacchio LA, McPherson R. A PYY Q62P variant linked to human obesity. Hum Mol Genet. 2006 Feb 1; 15(3):387-91. PMID: 16368708.
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      56. Ahituv N, Prabhakar S, Poulin F, Rubin EM, Couronne O. Mapping cis-regulatory domains in the human genome using multi-species conservation of synteny. Hum Mol Genet. 2005 Oct 15; 14(20):3057-63. PMID: 16155111.
        View in: PubMed
      57. Baroukh N, Ahituv N, Chang J, Shoukry M, Afzal V, Rubin EM, Pennacchio LA. Comparative genomic analysis reveals a distant liver enhancer upstream of the COUP-TFII gene. Mamm Genome. 2005 Feb; 16(2):91-5. PMID: 15859353.
        View in: PubMed
      58. Ahituv N, Rubin EM, Nobrega MA. Exploiting human--fish genome comparisons for deciphering gene regulation. Hum Mol Genet. 2004 Oct 1; 13 Spec No 2:R261-6. PMID: 15358733.
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      59. Ahituv N, Erven A, Fuchs H, Guy K, Ashery-Padan R, Williams T, de Angelis MH, Avraham KB, Steel KP. An ENU-induced mutation in AP-2alpha leads to middle ear and ocular defects in Doarad mice. Mamm Genome. 2004 Jun; 15(6):424-32. PMID: 15181535.
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      60. Ahituv N, Avraham KB. Mouse models for human deafness: current tools for new fashions. Trends Mol Med. 2002 Sep; 8(9):447-51. PMID: 12223317.
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      61. Melchionda S, Ahituv N, Bisceglia L, Sobe T, Glaser F, Rabionet R, Arbones ML, Notarangelo A, Di Iorio E, Carella M, Zelante L, Estivill X, Avraham KB, Gasparini P. MYO6, the human homologue of the gene responsible for deafness in Snell's waltzer mice, is mutated in autosomal dominant nonsyndromic hearing loss. Am J Hum Genet. 2001 Sep; 69(3):635-40. PMID: 11468689; PMCID: PMC1235492.
      62. Kiernan AE, Ahituv N, Fuchs H, Balling R, Avraham KB, Steel KP, Hrabé de Angelis M. The Notch ligand Jagged1 is required for inner ear sensory development. Proc Natl Acad Sci U S A. 2001 Mar 27; 98(7):3873-8. PMID: 11259677; PMCID: PMC31145.
      63. Ahituv N, Sobe T, Robertson NG, Morton CC, Taggart RT, Avraham KB. Genomic structure of the human unconventional myosin VI gene. Gene. 2000 Dec 31; 261(2):269-75. PMID: 11167014.
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      64. Ahituv N, Avraham KB. Auditory and vestibular mouse mutants: models for human deafness. J Basic Clin Physiol Pharmacol. 2000; 11(3):181-91. PMID: 11041382.
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      65. Vahava O, Morell R, Lynch ED, Weiss S, Kagan ME, Ahituv N, Morrow JE, Lee MK, Skvorak AB, Morton CC, Blumenfeld A, Frydman M, Friedman TB, King MC, Avraham KB. Mutation in transcription factor POU4F3 associated with inherited progressive hearing loss in humans. Science. 1998 Mar 20; 279(5358):1950-4. PMID: 9506947.
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      66. Ahituv N, Berman O. Devising a cooperation policy for emergency networks. J Oper Res Soc. 1987 Nov; 38(11):1015-29. PMID: 10302092.
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