DF/HCC Program Affiliation

Member, Cancer Genetics Program

DF/HCC Associations

Institutional Representative for BWH, Executive Committee
Member, Center Scientific Council

Research Abstract

The Morton Laboratory has as its research focus three projects which can be grouped under the area of human genetics. One effort underway is to identify and characterize genes involved in uterine leiomyomata (http://www.fibroids.net). These benign smooth muscle tumors are the most common indication for hysterectomy and provide a valuable system for dissecting critical molecular events that discriminate benign from malignant neoplasms. A genome wide scan is being performed to identify genes which predispose women to develop these tumors. Another ongoing project is to clone genes involved in hearing using a human cochlear library and to develop mouse models for human hearing disorders (http://.hearing.bwh.harvard.edu). A transcript map is being developed for the human cochlea providing positional candidate genes for deafness genes. A recent initiative is a project to use naturally occurring human chromosome rearrangements found in association with major congenital anomalies to identify genes critical in human development (http://dgap.harvard.edu). Various evolving genomics resources including an ordered BAC map of the human genome and the complete human DNA sequence will facilitate a high throughput identification of these developmental genes.

Publications

• , Chanock SJ, Manolio T, Boehnke M, Boerwinkle E, Hunter DJ, Thomas G, Hirschhorn JN, Abecasis G, Altshuler D, Bailey-Wilson JE, Brooks LD, Cardon LR, Daly M, Donnelly P, Fraumeni JF, Freimer NB, Gerhard DS, Gunter C, Guttmacher AE, Guyer MS, Harris EL,. Replicating genotype-phenotype associations. Nature 2007 Jun 7; 447(7145):655-60
  PMID: 17554299
• Lu W, Quintero-Rivera F, Fan Y, Alkuraya FS, Donovan DJ, Xi Q, Turbe-Doan A, Li QG, Campbell CG, Shanske AL, Sherr EH, Ahmad A, Peters R, Rilliet B, Parvex P, Bassuk AG, Harris DJ, Ferguson H, Kelly C, Walsh CA, Gronostajski RM, Devriendt K, Higgins A, Li. NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defects. PLoS Genet 2007 May 25; 3(5):e80
  PMID: 17530927
• Lu W, van Eerde AM, Fan X, Quintero-Rivera F, Kulkarni S, Ferguson H, Kim HG, Fan Y, Xi Q, Li QG, Sanlaville D, Andrews W, Sundaresan V, Bi W, Yan J, Giltay JC, Wijmenga C, de Jong TP, Feather SA, Woolf AS, Rao Y, Lupski JR, Eccles MR, Quade BJ, Gusella J. Disruption of ROBO2 is associated with urinary tract anomalies and confers risk of vesicoureteral reflux. Am J Hum Genet 2007 Apr; 80(4):616-32
  PMID: 17357069
• Leach NT, Sun Y, Michaud S, Zheng Y, Ligon KL, Ligon AH, Sander T, Korf BR, Lu W, Harris DJ, Gusella JF, Maas RL, Quade BJ, Cole AJ, Kelz MB, Morton CC. Disruption of diacylglycerol kinase delta (DGKD) associated with seizures in humans and mice. Am J Hum Genet 2007 Apr; 80(4):792-9
  PMID: 17357084
• Kim HG, Higgins AW, Herrick SR, Kishikawa S, Nicholson L, Kutsche K, Ligon AH, Harris DJ, Macdonald ME, Bruns GA, Morton CC, Quade BJ, Gusella JF. Candidate loci for Zimmermann-Laband syndrome at 3p14.3. Am J Med Genet A 2007 Jan 15; 143(2):107-11
  PMID: 17163523
• Treon SP, Hunter ZR, Aggarwal A, Ewen EP, Masota S, Lee C, Santos DD, Hatjiharissi E, Xu L, Leleu X, Tournilhac O, Patterson CJ, Manning R, Branagan AR, Morton CC. Characterization of familial Waldenstrom's macroglobulinemia. Ann Oncol 2006 Mar; 17(3):488-94
  PMID: 16357024
• Quade BJ, Wang TY, Sornberger K, Dal Cin P, Mutter GL, Morton CC. Molecular pathogenesis of uterine smooth muscle tumors from transcriptional profiling. Genes Chromosomes Cancer 2004 Jun; 40(2):97-108
  PMID: 15101043
• Gross KL, Neskey DM, Manchanda N, Weremowicz S, Kleinman MS, Nowak RA, Ligon AH, Rogalla P, Drechsler K, Bullerdiek J, Morton CC. HMGA2 expression in uterine leiomyomata and myometrium: quantitative analysis and tissue culture studies. Genes Chromosomes Cancer 2003 Sep; 38(1):68-79
  PMID: 12874787
• Quade BJ, Weremowicz S, Neskey DM, Vanni R, Ladd C, Dal Cin P, Morton CC. Fusion transcripts involving HMGA2 are not a common molecular mechanism in uterine leiomyomata with rearrangements in 12q15. Cancer Res 2003 Mar 15; 63(6):1351-8
  PMID: 12649198