William J. Pavan, Ph.D.

Senior Investigator, Genetic Disease Research Branch
Head, Mouse Embryology Section
Director, Intramural Training Office

Selected Publications

Loftus S.K., Morris J.A., Carstea E.D., Gu J.Z., Cummings C., Brown A., Ellison J., Ohno K., Rosenfeld M.A., Tagle D.A., Pentchev P.G., Pavan W.J. Murine model of Niemann-Pick C disease: Mutation in a cholesterol homeostasis gene. Science, 277(5323):232-235. 1997. [PubMed]

Southard-Smith E.M., Kos L., Pavan W.J. Sox10 mutation disrupts neural crest development in Dom Hirschsprung mouse model. Nat Genet, 18:60-64. 1998. [PubMed]

Southard-Smith M., Angrist M., Ellison J., Agarwala R., Baxevanis A., Chakravarti A., Pavan W.J. The Sox10(Dom) mouse: modeling the genetic variation of Waardenburg-Shah (WS4) syndrome. Genome Res, 9(3): 215-225. 1999. [PubMed]

Loftus S.K., Chen Y., Gooden G., Ryan J.F., Birznieks G., Hilliard M., Baxevanis A.D., Bittner M., Meltzer P., Trent J., Pavan W.J. Informatic selection of a neural crest-melanocyte cDNA set for microarray analysis. Proc Natl Acad Sci U S A, 96:9277-9280. 1999. [PubMed]

Dunn K.J., Williams B.O., Li Y., Pavan W.J. Neural crest-directed gene transfer demonstrates Wnt1 role in melanocyte expansion and differentiation during mouse development. Proc Natl Acad Sci U S A, 97(18):10050-10055. 2000. [PubMed]

Potterf, S.B., Furumura, M., Dunn, K.J., Arnheiter, H. and W.J. Pavan. Transcription factor hierarchy in Waardenburg syndrome: Regulation of MITF expression by SOX10 and PAX3. Human Genetics, 107(1) 1-6. 2000. [PubMed]

Dunn, K.J., Incao, A., Watkins-Chow, D., Li, Y. and W.J. Pavan. In utero complementation of a neural crest-derived melanocyte defect using cell directed gene transfer. Genesis, 30(2):70-6. 2001. [PubMed]

Potterf, S.B., Mollaaghababa, R., Hou, L., Southard-Smith, E.M., Hornyak, T.J., Arnheiter, H., and W.J. Pavan. Analysis of SOX10 function in neural crest-derived melanocyte development: SOX10-dependent transcriptional control of dopachrome tautomerase. Developmental Biology, 237(2):245-57. 2001. [PubMed]

Loftus, S.K., Larson, D.M., Watkins-Chow, D., Church, D. and W.J. Pavan. Generation of RCAS vectors useful for efficient gene transfer and functional analyses. DNA Research, (8):221-226. 2001. [PubMed]

Loftus, S.K., Larson, D.M., Baxter, L.L., Antonellis, A., Chen, Y., Wu. X., M. Bittner, Hammer, J.A., and W.J. Pavan. Mutation of Melanosome Protein RAB38 in chocolate Mice. Proc Natl Acad Sci U S A, 99(7): 4471-4476. 2002. [PubMed]

Baxter L.L and W.J. Pavan. The oculocutaneous albinism type IV gene Matp is a new marker of pigment cell precursors during mouse embryonic development. Mech. Dev, 116(1-2): 209-212. 2002. [PubMed]

Loftus, S.K., Erickson R., Walkley, S.U., Bryant, M.A., Incao, A., Heidenreich, R.A. and W.J. Pavan. Rescue of neurodegeneration in Niemann Pick-C mice by a prion-promoter driven Npc1 cDNA transgene. Human Molec. Genet, 11(24):3107-14. 2002. [PubMed]

Okazaki Y., Furuno M., Kasukawa T., Adachi J., Bono H., Kondo S., Nikaido I., Osato N., Saito R., Suzuki H., Yamanaka I., Kiyosawa H., Yagi K., Tomaru Y., Hasegawa Y., Nogami A., Schonbach C., Gojobori T., Baldarelli R., Hill D.P., Bult C., Hume D.A., Quackenbush J., Schriml L.M., Kanapin A., Matsuda H., Batalov S., Beisel K.W., Blake J.A., Bradt D., Brusic V., Chothia C., Corbani L.E., Cousins S., Dalla E., Dragani T.A., Fletcher C.F., Forrest A., Frazer K.S., Gaasterland T., Gariboldi M., Gissi C., Godzik A., Gough J., Grimmond S., Gustincich S., Hirokawa N., Jackson I.J., Jarvis E.D., Kanai A., Kawaji H., Kawasawa Y., Kedzierski R.M., King B.L., Konagaya A., Kurochkin I.V., Lee Y., Lenhard B., Lyons P.A., Maglott D.R., Maltais L., Marchionni L., McKenzie L., Miki H., Nagashima T., Numata K., Okido T., Pavan W.J., Pertea G., Pesole G., Petrovsky N., Pillai R., Pontius J.U., Qi D., Ramachandran S., Ravasi T., Reed J.C., Reed D.J., Reid J., Ring B.Z., Ringwald M., Sandelin A., Schneider C., Semple C.A., Setou M., Shimada K., Sultana R., Takenaka Y., Taylor M.S., Teasdale R.D., Tomita M., Verardo R., Wagner L., Wahlestedt C., Wang Y., Watanabe Y., Wells C., Wilming L.G., Wynshaw-Boris A., Yanagisawa M., Yang I., Yang L., Yuan Z., Zavolan M., Zhu Y., Zimmer A., Carninci P., Hayatsu N., Hirozane-Kishikawa T., Konno H., Nakamura M., Sakazume N., Sato K., Shiraki T., Waki K., Kawai J., Aizawa K., Arakawa T., Fukuda S., Hara A., Hashizume W., Imotani K., Ishii Y., Itoh M., Kagawa I., Miyazaki A., Sakai K., Sasaki D., Shibata K., Shinagawa A., Yasunishi A., Yoshino M., Waterston R., Lander E.S., Rogers J., Birney E., Hayashizaki Y.; The FANTOM Consortium.; RIKEN Genome Exploration Research Group Phase I & II Team. 2002. Analysis of the Mouse Transcriptome based upon Functional Annotation of 60,770 full length cDNAs. Nature, 5;420(6915):512-4.) 2002. [PubMed]

P. M. Pollock, K. Cohen-Solal, R. Sood, J. Namkoong, A. Koganti, H. Zhu, C. Robbins, I. Makalowska, J. J. Martino, S-S Shin, Y. Marin, K. G. Roberts, L. M. Yudt, A. Chen, J. Cheng, A. Incao, H. W. Pinkett, C. L Graham, K. Dunn, S. M. Crespo-Carbone, K. R. Mackason, K. B. Ryan, D. Sinsimer, J. Goydos, K. R. Reuhl, M. Eckhaus, P. S. Meltzer, W. J. Pavan, J. M. Trent & S. Chen. Melanoma mouse model implicates metabotropic glutamate signaling in melanocytic neoplasia. Nature Genetics, 34(1):108-12. 2003. [PubMed]

Mollaaghababa R. and Pavan W.J. The Importance of Having Your SOX on: Role of SOX10 in the Development of Neural Crest-Derived Melanocytes and Glia. Oncogene, 22(20):3024-34). 2003. [PubMed]

Carninci, P., Kazunori Waki, K., Shiraki, T., Konno, H., Shibata, K., Itoh, M., Aizawa, K., Arakawa, Y., Ishii, Y., Sasaki, D., Bono, H., Kondo, S., Sugahara, Y., Saito, R., Osato, N., Fukuda, S., Sato, K., Watahiki, A., Hirozane-Kishikawa, T., Nakamura, M., Shibata, Y., Yasunishi, A., Kikuchi, N., Yoshiki, A., Kusakabe, M., Gustincich, S., Beisel, K.,. Pavan, W.J., Aidinis, V., Nakagawara, A., Held, W.A., Iwata, H., Kono, T., Nakauchi, H., Lyons, P., Wells, C., Hume, D., Fagiolini, M., Hensch, T.K.,. Brinkmeier, M., Camper, S., Muramatsu, M., Okazaki, Y., Kawai, J., and Hayashizaki, Y.Targeting a complex transcriptome: The construction of the mouse full-length cDNA encyclopedia. Genome Research. 2003. [PubMed]

Rao, C., Foernzler, D., Liu, S., Loftus, S., McPherson, J., Apte, S., Pavan, W.J., and D.R. Beier. A defect in a novel ADAMTS family member is the cause of the belted white-spotting mutation. Development, 130(19):4665-72. 2003. [PubMed]

Baxter, L.L. and Pavan, W.J. Pmel17 expression is Mitf-dependent and reveals cranial melanoblast migration during murine development. Gene Expr Patterns, (6):703-7. 2003. [PubMed]

Hou, L., Loftus, S.K., Incao, A., Chen, A., and W.J. Pavan. Complementation of Melanocyte Development in SOX10 Mutant Neural Crest Using Lineage-Directed Gene Transfer. Dev. Dynamics, 229(1):54-62. 2004. [PubMed]

Jiao, Z., Mollaaghababa, R., Pavan, W.J., Antonellis, A., Green, E.D. and Hornyak, T.J. Direct Interaction of Sox10 with the Promoter of Murine Dopachrome tautomerase (Dct) and Synergistic Activation of Dct Expression with Mitf. Pigment Cell Research, (4):352-62. 2004. [PubMed]

Hou L, Pavan WJ, Shin MK, Arnheiter H. 2004 Cell-autonomous and cell non-autonomous signaling through endothelin receptor B during melanocyte development. Development, 131(14):3239-47. 2004. [PubMed]

Dunn, K.J., Brady, M., Ochsenbauer-Jambor, C., and W.J. Pavan. Wnt1 and Wnt3a promote expansion of melanocytes through distinct modes of action. Pigment Cell Research, (3):167-80. 2005. [PubMed]

Carninci P, Kasukawa T, Katayama S, Gough J, Frith MC, Maeda N, Oyama R, Ravasi T, Lenhard B, Wells C, Kodzius R, Shimokawa K, Bajic VB, Brenner SE, Batalov S, Forrest AR, Zavolan M, Davis MJ, Wilming LG, Aidinis V, Allen JE, Ambesi-Impiombato A, Apweiler R, Aturaliya RN, Bailey TL, Bansal M, Baxter L, Beisel KW, Bersano T, Bono H, Chalk AM, Chiu KP, Choudhary V, Christoffels A, Clutterbuck DR, Crowe ML, Dalla E, Dalrymple BP, de Bono B, Della Gatta G, di Bernardo D, Down T, Engstrom P, Fagiolini M, Faulkner G, Fletcher CF, Fukushima T, Furuno M, Futaki S, Gariboldi M, Georgii-Hemming P, Gingeras TR, Gojobori T, Green RE, Gustincich S, Harbers M, Hayashi Y, Hensch TK, Hirokawa N, Hill D, Huminiecki L, Iacono M, Ikeo K, Iwama A, Ishikawa T, Jakt M, Kanapin A, Katoh M, Kawasawa Y, Kelso J, Kitamura H, Kitano H, Kollias G, Krishnan SP, Kruger A, Kummerfeld SK, Kurochkin IV, Lareau LF, Lazarevic D, Lipovich L, Liu J, Liuni S, McWilliam S, Madan Babu M, Madera M, Marchionni L, Matsuda H, Matsuzawa S, Miki H, Mignone F, Miyake S, Morris K, Mottagui-Tabar S, Mulder N, Nakano N, Nakauchi H, Ng P, Nilsson R, Nishiguchi S, Nishikawa S, Nori F, Ohara O, Okazaki Y, Orlando V, Pang KC, Pavan WJ, Pavesi G, Pesole G, Petrovsky N, Piazza S, Reed J, Reid JF, Ring BZ, Ringwald M, Rost B, Ruan Y, Salzberg SL, Sandelin A, Schneider C, Schonbach C, Sekiguchi K, Semple CA, Seno S, Sessa L, Sheng Y, Shibata Y, Shimada H, Shimada K, Silva D, Sinclair B, Sperling S, Stupka E, Sugiura K, Sultana R, Takenaka Y, Taki K, Tammoja K, Tan SL, Tang S, Taylor MS, Tegner J, Teichmann SA, Ueda HR, van Nimwegen E, Verardo R, Wei CL, Yagi K, Yamanishi H, Zabarovsky E, Zhu S, Zimmer A, Hide W, Bult C, Grimmond SM, Teasdale RD, Liu ET, Brusic V, Quackenbush J, Wahlestedt C, Mattick JS, Hume DA, Kai C, Sasaki D, Tomaru Y, Fukuda S, Kanamori-Katayama M, Suzuki M, Aoki J, Arakawa T, Iida J, Imamura K, Itoh M, Kato T, Kawaji H, Kawagashira N, Kawashima T, Kojima M, Kondo S, Konno H, Nakano K, Ninomiya N, Nishio T, Okada M, Plessy C, Shibata K, Shiraki T, Suzuki S, Tagami M, Waki K, Watahiki A, Okamura-Oho Y, Suzuki H, Kawai J, Hayashizaki Y; FANTOM Consortium; RIKEN Genome Exploration Research Group and Genome Science Group (Genome Network Project Core Group). The transcriptional landscape of the mammalian genome. Science, 309(5740):1559-63. 2005. [PubMed]

Loftus SK, Cannons JL, Incao A, Pak E, Chen A, Zerfas PM, Bryant MA, Biesecker LG, Schwartzberg PL, Pavan WJ. Acinar Cell Apoptosis in Serpini2-DeficientMice Models Pancreatic Insufficiency. PLoS Genet, 1(3):e38. 2005. [PubMed ]

Antonellis A, Bennett WR, Menheniott TR, Prasad AB, Lee-Lin SQ, Green ED, Paisley D, Kelsh RN, Pavan WJ, Ward A. Deletion of Long-Range Sequences at Sox10 Compromises Developmental Expression in a Mouse Model of Waardenburg-Shah (WS4) Syndrome. Hum Mol Genet. (2):259-71. 2006. [PubMed]

Hou L, Arnheiter H, Pavan WJ. Interspecies difference in the regulation of melanocyte development by SOX10 and MITF. Proc Natl Acad Sci U S A, 103(24):9081-5. 2006. [PubMed]

Silver DL, Hou L, Pavan WJ. The genetic regulation of pigment cell development. Adv Exp Med Biol, 589:155-69. 2006. [PubMed]

Buac K, Pavan WJ. Stem cells of the melanocyte lineage. Cancer Biomark, 3(4-5):203-9, 2007. [PubMed]

Watkins-Chow DE, Pavan WJ. Genomic copy number and expression variation within the C57BL/6J inbred mouse strain. Genome Res, (1):60-6. 2008. [PubMed]

Silver DL, Hou L, Somerville R, Young ME, Apte SS, Pavan WJ. The secreted metalloprotease ADAMTS20 is required for melanoblast survival. PLoS Genet, 29;4(2):e1000003. 2008. [PubMed]

Matera I, Watkins-Chow DE, Loftus SK, Hou L, Incao A, Silver DL, Rivas C, Elliott EC, Baxter LL, Pavan WJ. A sensitized mutagenesis screen identifies Gli3 as a modifier of Sox10 neurocristopathy. Hum Mol Genet, 17(14):2118-31. 2008. [PubMed]

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Last Reviewed: February 14, 2014