Scientist: Education: Education: Developmental Genetics Course
This course involves the discussion of research papers that have
elucidated the roles of specific growth factors, transcription factors,
and intermediary signal-transduction pathways in mammalian development.
The focus will be on genetic analyses of transgenic/knockout mice
and of humans with congenital malformation syndromes.
Faculty participants:
Ethylin Wang Jabs,
MD
Lori Kotch, PhD
Ian McIntosh, PhD
Roger
Reeves, PhD
Laura Roman, PhD
Greg Semenza, MD,
PhD
Syllabus of Papers Discussed:
Gene Dosage Effects: IPF1, Pancreatic
Agenesis, and Type II Diabetes Mellitus (G.
Semenza)
Jonsson J, Carlsson L, Edlund T, Edlund H.
Insulin-promoter-factor 1 is required for pancreas development
in mice.
Nature 1994 Oct 13;371(6498):606-609 abstract
Stoffers DA, Ferrer J, Clarke WL, Habener JF.
Early-onset type-II diabetes mellitus (MODY4) linked to IPF1.
Nat Genet 1997 Oct;17(2):138-139 abstract
Ahlgren U, Jonsson J, Jonsson L, Simu K, Edlund H.
beta-cell-specific inactivation of the mouse Ipf1/Pdx1 gene results
in loss of the beta-cell phenotype and maturity onset diabetes.
Genes Dev 1998 Jun 15;12(12):1763-1768 abstract
Stoffers DA, Stanojevic V, Habener JF.
Insulin promoter factor-1 gene mutation linked to early-onset
type 2 diabetes mellitus directs expression of a dominant negative
isoprotein.
J Clin Invest 1998 Jul 1;102(1):232-241 abstract
Hani EH, Stoffers DA, Chevre JC, Durand E, Stanojevic V, Dina C,
Habener JF, Froguel P.
Defective mutations in the insulin promoter factor-1 (IPF-1)
gene in late-onset type 2 diabetes mellitus.
J Clin Invest 1999 Nov;104(9):R41-R48 abstract
Thomas MK, Devon ON, Lee JH, Peter A, Schlosser DA, Tenser MS,
Habener JF.
Development of diabetes mellitus in aging transgenic mice following
suppression of pancreatic homeoprotein IDX-1.
J Clin Invest 2001 Jul;108(2):319-329 abstract
Establishing a Genetic Basis for Teratology
(G.
Semenza)
Lammer EJ, Chen DT, Hoar RM, Agnish ND, Benke PJ, Braun JT, Curry
CJ, Fernhoff PM, Grix AW Jr, Lott IT, et al.
Retinoic acid embryopathy.
N Engl J Med 1985 Oct 3;313(14):837-841 abstract
Kessel M, Gruss P.
Homeotic transformations of murine vertebrae and concomitant
alteration of Hox codes induced by retinoic acid.
Cell 1991 Oct 4;67(1):89-104 abstract
Lohnes D, Kastner P, Dierich A, Mark M, LeMeur M, Chambon P.
Function of retinoic acid receptor gamma in the mouse.
Cell 1993 May 21;73(4):643-658 abstract
Zhao Q, Behringer RR, de Crombrugghe B.
Prenatal folic acid treatment suppresses acrania and meroanencephaly
in mice mutant for the Cart1 homeobox gene.
Nat Genet 1996 Jul;13(3):275-283 abstract
Role of BMP and SHH
in embryonic pattern formation (L.
Kotch)
McMahon, J., Takada, S., Zimmerman, L.B., Fan, C.M., Harland, R.M.
and McMahon, A.P.
Noggin-mediated antagonism of BMP signaling is required for growth
and patterning of the neural tube and somite.
Genes and Development 1998 May 15: 12(10):1438-52 abstract
Hu, D. and Helms, J.A.
The role of sonic hedgehog in normal and abnormal craniofacial
morphogenesis.
Development 1999 Nov: 126 (21):4873-4884 abstract
Golden, J.A., Bracilovic, A., McFadden, K.A., Beesley, J.S., Rubenstein,
J.L. and Grinspan, J.B.
Ectopic bone morphogenetic proteins 5 and 4 in the chicken forebrain
lead to cyclopia and holoprosencephaly.
Proc. Natl. Acad. Sci 1999; 96: 2439-2444 abstract
Role of TBX1 in the
Velocardiofacial Syndrome (R.
Reeves)
Guris, D. L., J. Fantes, D. Tara, B. J. Druker, and A. Imamoto.
Mice lacking the homologue of the human 22q11.2 gene CRKL phenocopy
neurocristopathies of DiGeorge syndrome.
Nat Genet 2001; 27: 293-8 abstract
Jerome, L. A. and V. E. Papaioannou.
DiGeorge syndrome phenotype in mice mutant for the T-box gene,
Tbx1.
Nat Genet 2001; 27: 286-91 abstract
Lindsay, E. A., A. Botta, V. Jurecic, S. Carattini-Rivera, Y. C.
Cheah, H. M. Rosenblatt, A. Bradley, and A. Baldini.
Congenital heart disease in mice deficient for the DiGeorge syndrome
region.
Nature 1999; 401: 379-83 abstract
Lindsay, E. A., F. Vitelli, H. Su, M. Morishima, T. Huynh, T. Pramparo,
V. Jurecic, G. Ogunrinu, H. F. Sutherland, P. J. Scambler, A. Bradley,
and A. Baldini.
Tbx1 haploinsufficieny in the DiGeorge syndrome region causes
aortic arch defects in mice.
Nature 2001; 410: 97-101 abstract
Merscher, S., B. Funke, J. A. Epstein, J. Heyer, A. Puech, M. M.
Lu, R. J. Xavier, M. B. Demay, R. G. Russell, S. Factor, K. Tokooya,
B. S. Jore, M. Lopez, R. K. Pandita, M. Lia, D. Carrion, H. Xu,
H. Schorle, J. B. Kobler, P. Scambler, A. Wynshaw-Boris, A. I. Skoultchi,
B. E. Morrow, and R. Kucherlapati.
TBX1 is responsible for cardiovascular defects in velo-cardio-facial/DiGeorge
syndrome.
Cell 2001; 104: 619-29. abstract
TWIST, helix-loop-helix transcription
factor (E. Jabs)
Howard TD, Paznekas WA, Green ED, Chiang LC, Ma N, Ortiz de Luna
RI, Garcia Delgado C, Gonzalez-Ramos M, Kline AD, Jabs EW.
Mutations in TWIST, a basic helix-loop-helix transcription factor,
in Saethre-Chotzen syndrome.
Nat Genet 1997 Jan;15(1):36-41 abstract
Bourgeois P, Bolcato-Bellemin AL, Danse JM, Bloch-Zupan A, Yoshiba
K, Stoetzel C, Perrin-Schmitt F.
The variable expressivity and incomplete penetrance of the twist-null
heterozygous mouse phenotype resemble those of human Saethre-Chotzen
syndrome.
Hum Mol Genet 1998 Jun;7(6):945-57 abstract
Yousfi M, Lasmoles F, Lomri A, Delannoy P, Marie PJ.
Increased bone formation and decreased osteocalcin expression
induced by reduced Twist dosage in Saethre-Chotzen syndrome.
J Clin Invest 2001 May;107(9):1153-61 abstract
Jabs EW.
A TWIST in the fate of human osteoblasts identifies signaling
molecules involved in skull development.
J Clin Invest 2001; 107(9):1075-1077 abstract
Fibroblast growth factor receptors:
skull and limb development (E.
Jabs)
Oldridge M, Zackai EH, McDonald-McGinn DM, Iseki S, Morriss-Kay
GM, Twigg SR, Johnson D, Wall SA, Jiang W, Theda C, Jabs EW, Wilkie
AO.
De novo alu-element insertions in FGFR2 identify a distinct pathological
basis for Apert syndrome.
Am J Hum Genet 1999 Feb;64(2):446-61 abstract
Hajihosseini MK, Wilson S, De Moerlooze L, Dickson C.
A splicing switch and gain-of-function mutation in FgfR2-IIIc
hemizygotes causes Apert/Pfeiffer-syndrome-like phenotypes.
Proc Natl Acad Sci USA 2001 Mar 27;98(7):3855-60 abstract
Yu K, Herr AB, Waksman G, Ornitz DM.
Loss of fibroblast growth factor receptor 2 ligand-binding specificity
in Apert syndrome.
Proc Natl Acad Sci USA 2000 Dec 19;97(26):14536-41 abstract
Developmental Genetics in Zebrafish
(L. Roman)
Popperl H, Rokhof H, Chang H, Haffter P, Kimmel CB, and Moens CB.
Lazarus is a novel pbx gene that globally mediates hox gene function
in zebrafish.
Molec Cell 2000; 6:255-267 abstract
Vlachakis N, Choe S-K, and Sagerstrom CB.
Meis3 synergizes with Pbx4 and Hox1b in promoting hindbrain fates
in zebrafish. Development 2001; 128:1299-1312 abstract
The Diverse Roles of LMX1B (I.
McIntosh)
Chen H, Lun Y, Ovchinnikov D, Kokubo H, Oberg KC, Pepicelli CV,
Gan L, Lee B, and Johnson RL.
Limb and kidney defects in Lmx1b mutant mice suggest an involvement
of LMX1B in human nail patella syndrome.
Nat Genet 1998 May;19(1):51-55 abstract
Morello R, Zhou G, Dreyer SD, Harvey SJ, Ninomiya Y, Thorner PS,
Miner JH, Cole W, Winterpacht A, Zabel B, Oberg KC, and Lee B.
Regulation of glomerular basement membrane collagen expression
by LMX1B contributes to renal disease in nail patella syndrome.
Nat Genet 2001 Feb;27(2):205-208 abstract
Last Updated:
6/25/02
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