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Lori Sussel, Ph.D.

Associate Professor
Columbia University
Genetics and Development

1150 St Nicholas Avenue, Room 607B
New York, NY 10032
USA

p. 212-851-5115
f. 212-851-5236
· email

Lori Sussel, Ph.D. - Investigator Profile

Research in the Sussel lab combines molecular biology techniques and mouse embryology to study the role of regulatory factors in specifying the development and differentiation of the pancreas during mouse embryogenesis. The pancreas is an essential organ required to maintain energy balance in the body; disruption of pancreatic function leads to Diabetes. The endocrine pancreas is organized into clusters of cells called the islets of Langerhans, which are comprised of four well-defined hormone-producing cell types: alpha (?), beta (?), delta (?) and PP cells. In addition, our lab has recently discovered the presence of a fifth cell type in the islet, which produces the hormone ghrelin. The ? cells represent the largest population of islet cells and produce insulin, a hormone critical for life. While all the cells of the endocrine pancreas are thought to arise from a common precursor, the early process of lineage determination and cell-type differentiation within the pancreas is unclear. To date, only a handful of regulatory factors involved in pancreas development have been identified and the molecular pathways that specify islet cell differentiation are poorly understood. For this reason, we are attempting to identify the regulatory genes that are involved in the development of pancreatic islet precursors, islet cell development and differentiation, and the propagation of ? cells or their precursors. Projects in the lab are specifically focused on understanding the molecular mechanisms that determine how the pancreas initially develops in the mouse embryo and how the different islet cell populations are specified. In particular, we have demonstrated that homeobox transcription factor, Nkx2.2 is essential for the specification of most glucagon-producing ? cells and all insulin-producing ? cells in the islet. We have generated an Nkx2.2 knockout mouse model that disrupts Nkx2.2 function. These mice fail to differentiate their ? cells, produce no insulin, and die of diabetes shortly after birth. Surprisingly, these mice were found to have islets filled with ghrelin-producing cells, which appear to replace the ? cell population. Studies in the lab are focused on determining the molecular mechanisms by which Nkx2.2 functions in the endocrine pancreas to regulate these early islet cell fate decisions. Recently, we have used in vivo genetic approaches to determine that Nkx2.2 functions primarily as a transcriptional repressor to specify the ? cell fate and the immature ? cell population. We are currently using several biochemical and molecular techniques to identify Nkx2.2 interacting partners and its downstream targets in the pancreas. We are also performing structure-function analysis of the Nkx2.2 gene, in vitro and in vivo.

Scientific Interests/Keywords

Genetic Differentiation of Endocrine Pancreatic Cells

Associate Professor, Sussel Lab

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Publication Citation
20584984 Raum JC, Hunter CS, Artner I, Henderson E, Guo M, Elghazi L, Sosa-Pineda B, Ogihara T, Mirmira RG, Sussel L, Stein R Islet beta-cell-specific MafA transcription requires the 5'-flanking conserved region 3 control domain. (2010) Mol Cell Biol 30: 4234-44 (Added 2010-10-21 14:17:15.659319)
20374962 Gu C, Stein GH, Pan N, Goebbels S, Hörnberg H, Nave KA, Herrera P, White P, Kaestner KH, Sussel L, Lee JE Pancreatic beta cells require NeuroD to achieve and maintain functional maturity. (2010) Cell Metab 11: 298-310 (Added 2011-01-07 10:38:05.479429)
20003319 Anderson KR, White P, Kaestner KH, Sussel L Identification of known and novel pancreas genes expressed downstream of Nkx2.2 during development. (2009) BMC Dev Biol 9: 65 (Added 2011-04-19 12:44:37.68382)
19965928 Hill JT, Chao CS, Anderson KR, Kaufman F, Johnson CW, Sussel L Nkx2.2 activates the ghrelin promoter in pancreatic islet cells. (2010) Mol Endocrinol 24: 381-90 (Added 2010-08-03 11:47:51.708038)
19759004 Anderson KR, Torres CA, Solomon K, Becker TC, Newgard CB, Wright CV, Hagman J, Sussel L Cooperative transcriptional regulation of the essential pancreatic islet gene NeuroD1 (beta2) by Nkx2.2 and neurogenin 3. (2009) J Biol Chem 284: 31236-48 (Added 2010-08-03 11:47:51.715998)
19268691 Hill JT, Mastracci TL, Vinton C, Doyle ML, Anderson KR, Loomis ZL, Schrunk JM, Minic AD, Prabakar KR, Pugliese A, Sun Y, Smith RG, Sussel L Ghrelin is dispensable for embryonic pancreatic islet development and differentiation. (2009) Regul Pept 157: 51-6 (Added 2010-08-03 11:47:51.723797)
18022152 Desai S, Loomis Z, Pugh-Bernard A, Schrunk J, Doyle MJ, Minic A, McCoy E, Sussel L Nkx2.2 regulates cell fate choice in the enteroendocrine cell lineages of the intestine. (2008) Dev Biol 313: 58-66 (Added 2010-08-03 11:47:51.731657)
17988662 Chao CS, Loomis ZL, Lee JE, Sussel L Genetic identification of a novel NeuroD1 function in the early differentiation of islet alpha, PP and epsilon cells. (2007) Dev Biol 312: 523-32 (Added 2010-08-03 11:48:04.193931)
17456846 Doyle MJ, Sussel L Nkx2.2 regulates beta-cell function in the mature islet. (2007) Diabetes 56: 1999-2007 (Added 2010-08-03 11:48:04.199269)
17202186 Doyle MJ, Loomis ZL, Sussel L Nkx2.2-repressor activity is sufficient to specify alpha-cells and a small number of beta-cells in the pancreatic islet. (2007) Development 134: 515-23 (Added 2010-08-03 11:48:04.203028)
16887115 Decker K, Goldman DC, Grasch CL, Sussel L Gata6 is an important regulator of mouse pancreas development. (2006) Dev Biol 298: 415-29 (Added 2006-12-14 11:21:56)
16847327 Raum JC, Gerrish K, Artner I, Henderson E, Guo M, Sussel L, Schisler JC, Newgard CB, Stein R FoxA2, Nkx2.2, and PDX-1 regulate islet beta-cell-specific mafA expression through conserved sequences located between base pairs -8118 and -7750 upstream from the transcription start site. (2006) Mol Cell Biol 26: 5735-43 (Added 2010-10-21 14:17:15.674322)
16339193 Prakash N, Brodski C, Naserke T, Puelles E, Gogoi R, Hall A, Panhuysen M, Echevarria D, Sussel L, Weisenhorn DM, Martinez S, Arenas E, Simeone A, Wurst W A Wnt1-regulated genetic network controls the identity and fate of midbrain-dopaminergic progenitors in vivo. (2006) Development 133: 89-98 (Added 2006-12-14 11:22:45)
15053900 Doyle MJ, Sussel L Engineering islets: lessons from stem cells and embryonic development. (2004) Endocrinol Metab Clin North Am 33: 149-62, x (Added 2006-12-14 11:23:24)
14970313 Prado CL, Pugh-Bernard AE, Elghazi L, Sosa-Pineda B, Sussel L Ghrelin cells replace insulin-producing beta cells in two mouse models of pancreas development. (2004) Proc Natl Acad Sci U S A 101: 2924-9 (Added 2006-12-14 11:24:01)
14729487 Wang J, Elghazi L, Parker SE, Kizilocak H, Asano M, Sussel L, Sosa-Pineda B The concerted activities of Pax4 and Nkx2.2 are essential to initiate pancreatic beta-cell differentiation. (2004) Dev Biol 266: 178-89 (Added 2006-12-14 11:25:26)
12426319 Cissell MA, Zhao L, Sussel L, Henderson E, Stein R Transcription factor occupancy of the insulin gene in vivo. Evidence for direct regulation by Nkx2.2. (2003) J Biol Chem 278: 751-6 (Added 2006-12-14 11:25:41)
11526078 Qi Y, Cai J, Wu Y, Wu R, Lee J, Fu H, Rao M, Sussel L, Rubenstein J, Qiu M Control of oligodendrocyte differentiation by the Nkx2.2 homeodomain (2001) Development 128: 2723-33 (Added 2005-04-13 13:02:24)
11076772 Sander M, Sussel L, Conners J, Scheel D, Kalamaras J, Dela Cruz F, Schwitzgebel V, Hayes-Jordan A, German M Homeobox gene Nkx6.1 lies downstream of Nkx2.2 in the major pathway of beta-cell formation in the pancreas. (2000) Development 127: 5533-40 (Added 2011-03-24 22:26:41.218176)
10903178 Schwitzgebel VM, Scheel DW, Conners JR, Kalamaras J, Lee JE, Anderson DJ, Sussel L, Johnson JD, German MS Expression of neurogenin3 reveals an islet cell precursor population in the pancreas. (2000) Development 127: 3533-42 (Added 2011-03-24 22:26:41.235665)
10393115 Sussel L, Marin O, Kimura S, Rubenstein JL Loss of Nkx2.1 homeobox gene function results in a ventral to dorsal (1999) Development 126: 3359-70 (Added 2005-04-13 12:53:49)
10217145 Briscoe J, Sussel L, Serup P, Hartigan-O'Connor D, Jessell TM, Rubenstein JL, Ericson J Homeobox gene Nkx2.2 and specification of neuronal identity by graded (1999) Nature 398: 622-7 (Added 2005-04-13 13:08:27)
9584121 Sussel L, Kalamaras J, Hartigan-O'Connor DJ, Meneses JJ, Pedersen RA, Rubenstein JL, German MS Mice lacking the homeodomain transcription factor Nkx2.2 have diabetes due (1998) Development 125: 2213-21 (Added 2005-04-13 12:53:51)
9533954 Qiu M, Shimamura K, Sussel L, Chen S, Rubenstein JL Control of anteroposterior and dorsoventral domains of Nkx-6.1 gene (1998) Mech Dev 72: 77-88 (Added 2005-04-13 12:53:54)
Resource ID Name Contributed on Primary Contributor
203 Glucagon:rtTA Sep 25, 2007 Yes
231 Nkx2.2 TN mutation May 5, 2008 Yes
232 Nkx2.2:rtTA May 5, 2008 Yes
240 Nkx2.2:LacZ Jul 29, 2008 Yes
241 Nkx2.2:NK2domain mutation Aug 8, 2008 Yes
274 Polyclonal Human Nkx2.2 raised in Goat Sep 19, 2003 Yes
291 Polyclonal Human GATA-4 raised in Rabbit Sep 29, 2003 Yes
292 Polyclonal mouse PDX1 raised in Rabbit Sep 29, 2003 Yes
721 GhrlLCA Jan 16, 2009 Yes
761 GhrlCre-eGFP Jan 16, 2009 Yes
1066 Gene expression profiling of Nkx2-2 Mutant and Wild-Type - e12.5 and e13.5 Pancreata Feb 9, 2009 Yes
1321 Nkx2.2 null Mar 25, 2009 Yes
3042 ROSA26Nkx2.2.CFP Mar 9, 2010 Yes
4080 Nkx2.23XHA.Nkx2.2 Apr 13, 2011 Yes
4086 Nkx2.2(3XHA.Nkx2.2)Suss Apr 25, 2011 Yes
4087 Nkx2.2Cre.EGFP Apr 25, 2011 Yes
4093 Nkx2.2Cherry May 10, 2011 Yes
4120 Functional analysis of the Nkx2.2 SD domain: gene expression profiling of E16.5 Nkx2.2 SD mutant pancreata versus wild-type littermate pancreata Aug 2, 2011 Yes
4121 Gene expression profiling of wild-type, Nkx2.2 null, NeuroD null and Nkx2.2/NeuroD double KO E13.5 pancreata Aug 2, 2011 Yes
4150 Nkx2.2(Cre.EGFP)Suss Nov 23, 2011 Yes
4179 IncRNA ml-15_KO construct Jan 17, 2012
4278 GhrlCre-eGFP Mar 7, 2012 Yes
4544 Ferrer lncRNA manuscript - confidential Sep 26, 2012
4559 Whole transcriptome analysis of pancreatic ghrelin cells in WT and Nkx2.2 KO mouse embryo Nov 20, 2012 Yes
4582 Null ncRNA-MafB Mar 29, 2013
4583 A model of transcriptional ncRNA networks in islet-cell differentiation Mar 29, 2013 Yes
26 completed resources viewable