Selected recent publications from investigators at work in the Human Molecular Genetics Program:

DiDonato Lab

Heier, C.R., Hampton, T.G., Wang, D., DiDonato, C.J. (2010) Development of electrocardiogram intervals during growth of FVB/N neonate mice. BMC Physiol.  Aug 24;10(1):16.  [Epub ahead of print.]

Heier, C.R., Satta, R., Lutz, C., DiDonato, C.J. (2010) Arrythmia and cardiac defects are a feature of spinal muscular atrophy model mice.  Human Molecular Genetics.  [Epub ahead of print.]

Gogliotti, R.G., Hammond, S.M., Lutz, C., DiDonato, C.J. (2010) Molecular and phenotypic reassessment of an infrequently used mouse model for spinal muscular atrophy.  Biochem Biophys Res Commun.  Jan 1;391(1):517-22.  

Heier C.R., DiDonato C.J. (2009) Translational readthrough by the aminoglycoside geneticin (G418) modulates SMN stability in vitro and improves motor function in SMA mice in vivo. Hum Mol Genet; Vol 18, No 7: 1310-1322.

Gavrilina T.O., McGovern V.L., Workman E., Crawford T.O., Gogliotti R.G., DiDonato C.J., Monani U.R., Morris G.E., Burghes A.H. (2008) Neuronal SMN expression corrects spinal muscular atrophy in severe SMA mice while muscle-specific SMN expression has no phenotypic effect. Hum Mol Genet Apr 15;17(8): 1063-75.

Kostova, F.V., Williams, V.C., Heemskerk, J. Iannaccone, S., DiDonato, C.J., Swoboda, K. and Maria, B.L. (2007) Spinal Muscular Arophy: Classification, Diagnosis, management, Pathogenesis, and Future Research Directions JCN. 22 (8) 926-945.    

Heier C.R., Gogliotti R.G., DiDonato C.J. (2007) SMN transcript stability: could modulation of messenger RNA degradation provide a novel therapy for spinal muscular atrophy? J Child Neurol Aug; 22(8): 1013-8.

Schmid A., DiDonato C.J. (2007) Animal models of spinal muscular atrophy. J Child Neurol. Aug; 22(8): 1004-12.

DiDonato, C.J., Parks, R.J., and Kothary, R. (2003) Development of a gene therapy strategy for the restoration of survival motor neuron (SMN) expression: implications for SMA therapy. Human Gene Therapy. 14 (2) 179-188.  

Harris Lab

Lewandowska, M.A., Costa F., Bischof J.M., Williams S.H., Soares M.B., and Harris A.  (2010)  Multiple mechanisms influence regulation of the cystic fibrosis transmembrane conductance regulator gene promoter.  Am J Respir Cell Mol Bio. 43(3):334-41. 

Ott, C.J., Blackledge N.P., Kerschner J., Leir S.H., Crawford G., Cotton C.U. and Harris A. (2009) Intronic enhancers coordinate epithelial-specific looping of the active CFTR locus.  PNAS.  106 (47): 19934-9. 

Ott, C.J., Blackledge N.P., Leir S.H., Harris A. (2009) Novel regulatory mechanisms for the CFTR gene.  Biochem. Soc. Trans. 77:843-8. 

Blackledge N.P., Ott C.J., Gillen A.E., Harris A. (2009) An insulator element 3' to the CFTR gene binds CTCF and reveals an active chromatin hub in primary cells. Nucleic Acids Res. v.37(4); Mar 2009.

Ott, C., Suszko, M., Blackledge N.P., Wright J., Crawford G., Harris, A. (2009) A complex intronic enhancer regulates expression of the CFTR gene by direct interaction with the promoter.  J. Cell and Mol. Med (in press).  

Kotzamanis G., Abdulrazzak H., Gifford-Garner J., Haussecker P.L., Cheung W., Harris A., Kotsinas A., Gorgoulis V., Huxley C. (2008) CFTR expression from a BAC carrying the complete human gene and associated regulatory elements.  J. Cell and Mol. Med. (in press).

Evans, J.R., Kelly, D.L., Morris, K.J., Arvide, E.M., Harris, A. (2008) RNA interference-mediated inhibition of hepatocyte nuclear factor 1alpha identifies target genes.  Biochimica et Biophysica Acta May; 1779(5):341-6.  

Harris, A., Harris, H., and Hollingsworth, M. A. (2007) Complete suppression of tumor formation by high levels of basement membrane collagen. Mol Cancer Research 5(12): 1241-5.

Blackledge, N.P., Carter, E.J., Evans, J.R., Lawson, V., Rowntree, R.K., Harris, A. (2007) CTCF mediates insulator function at the CFTR locus. Biochem J. Dec 1; 408(2):267-75.

Parry, S., Hanisch, F.G., Leir, S.H., Sutton-Smith, M., Morris, H.R., Dell, A., Harris, A. (2006) N-Glycosylation of the MUC1 mucin in epithelial cells and secretions. Glycobiology Jul;16(7): 623-34.

Shiraga, T., Winpenny, J., Carter, E., McCarthy, V., Hollingsworth, M.A., Harris, A. (2005) Evaluation of potential regulatory elements in two DNase I hypersensitive sites in the MUC1 gene promoter. Exp. Cell Research. Exp. Cell Research. 308:41-52.

Palmai-Pallag, T., Khodabukus, N., Kinarsky, L., Leir, S-H., Sherman, S., Hollingsworth, M.A. and Harris, A. (2005) The role of the SEA (sea urchin sperm protein, enterokinase and agrin) - module in cleavage of membrane-tethered mucins. FEBS J. 272:2901-11. 

Leir, S.H., Parry, S., Palmai-Pallag, T., Evans, J.R., Morris, H.R., Dell, A., Harris, A. (2005) Mucin glycosylation and sulphation in airway epithelial cells is not influenced by CFTR expression. Am. J. Resp. Cell and Mol. Biol. 32(5):453-61.

Parry, S., Sutton-Smith, M., Harrison, D., Heal, P., Hollingsworth, M.A., Morris, H.R., Dell, A., Harris A. (2005) In vivo glycosylation of MUC6 mucin tandem repeats. Biochem. Biophys. Acta: General Subjects. 1722(1):77-83.

Disset, A., Michot, C., Harris, A., Buratti, E., Claustres, M., Tuffery-Giraud, S. (2004) A T3 allele in the CFTR gene exacerbates exon 9 skipping in vas deferens and epididymal cell lines and is associated with Congenital Bilateral Absence of Vas Deferens (CBAVD). Human Mutation. 25:72-81

Mouchel, N., Henstra, S.A., McCarthy, V.A., Williams, S.H, Phylactides, M., Harris, A. (2004) HNF1alpha is involved in regulation of expression of the CFTR gene. Biochemical Journal. 378: 909-918.

Williams, S.H., Sahota, V., Palmai-Pallag, T., Tebbutt, S.J., Walker, J., Harris, A. (2003) Evaluation of gene targeting by homologous recombination in ovine somatic cells. Molec. Reprod. and Devel. 66:115-125.

Broackes-Carter, F., Williams, S.H, Wong, P.L., Harris, A. (2003) Alternative splicing of the ovine CFTR gene. Mammalian Genome. 14, 778ˆ787.

Williams, S.H., Mouchel, N., Harris, A. (2003) A comparative genomic analysis of the cow, pig and human CFTR genes identifies potential intronic regulatory elements. Genomics 81: 628-639.

Mouchel, N., Broackes-Carter, F., Harris, A. (2003) Alternative 5' exons of the CFTR gene show developmental regulation. Hum. Mol.Genet.12: 759-769.

Morris, H.R., Dell, A., Harris, A. (2003) The contribution of tandem repeat number to the O-glycosylation of mucins. Glycobiology. 13: 265-277.

Herzing Lab

Viemari J.C., Roux J.C., Tryba A.K., Saywell V., Burnet H., Peña F., Zanella S., Bévengut M., Barthelemy-Requin M., Herzing L.B., Moncla A., Mancini J., Ramirez J.M., Villard L., Hilaire G. (2005) Mecp2 deficiency disrupts norepinephrine and respiratory systems in mice Dec 14; 25(50):11521-30

Matsumura M., Kubota T., Hidaka E., Wakui K., Kadowaki S., Ueta I., Shimizu T., Ueno I., Yamauchi K., Herzing L.B., Nurmi E.L., Sutcliffe J.S., Fukushima Y., Katsuyama T. (2003) 'Severe' Prader-Willi syndrome with a large deletion of chromosome 15 due to an unbalanced t (15, 22)(q14;q11.2) translocation. Clin Genet 2003 Jan; 63(1); 79-81

Herzing L.B., Cook E.H. Jr, Ledbetter D.H. (2002) Allele-specific expression analysis by RNA-FISH demonstrates preferential maternal expression of UBE3A and imprint maintenance within 15q11- q13 duplications. Hum Mol Genet. Jul 15; 11(15); 1707-18

Kim S.J., Herzing L.B., Veenstra-VanderWeele J., Lord C., Courchesne R., Leventhal B.L., Ledbetter D.H., Courchesne E., Cook E.H. Jr. (2002) Mutation screening and transmission disequilibrium study of ATP10C in autism. Am J Med Genet. 2002 Mar 8; 114(2): 137-43.

Klüppel Lab 

Willis, C.M., Wrana, J.L. and Klüppel, M.  (2009).  Identification and characterization of TGF-β-dependent and -independent cis-regulatory modules in the C4St-1/CHST11 locus.  Genet. Mol. Res. 8 (4): 1331-1343. 

Hinek, A., Teitell, M.A., Schoyer, L., Allen, W., Gripp, K.W., Hamilton, R., Weksberg, R., Klüppel, M. and Lin, A.E. Myocardial storage of Chondroitin sulfate-containing moieties in Costello Syndrome patients with severe hypertrophic cardiomyopathy. Am. J. Med. Genet. 133A, 1-12 (2005).

Klüppel, M., Wight, T.N., Chan, C., Hinek, A., and Wrana, J.L. Maintenance of chondroitin sulfonation balance by Chondroitin-4-sulfotransferase-1 is required for chondrocyte development and growth factor signaling during cartilage morphogenesis. Development, 132 (17), 3989-4003 (2005).

Klüppel, M. and Wrana, J.L. (2005) Turning it up a Notch: interactions between the Notch and TGFb signaling pathways. Bioessays 115-118.

Xiao, C., Shim, J., Klüppel, M., Zhang, S.S., Dong, C., Flavell, R.A., Fu, X.-Y., Wrana, J.L., Hogan, B.L.M. and Gosh, S. (2003). Ecsit is required for BMP signaling and mesoderm formation during mouse embryogenesis. Genes and Development 17, 2933-2949.

Morris Lab

Drerup C.M., Wiora H.M., Morris J.A. (2010)  Characterization of the overlapping expression patterns of the zebrafish LIS1 orthologs.  Gene Expr Patterns.  10(1): 75-85.

Drerup C.M., Wiora H.M., Topczewski J., Morris J.A. (2009) Disc1 regulates foxd3 and sox10 expression, affecting neural crest migration and differentiation.  Development.  136(15):2623-32.

Meyer K.D., Morris J.A. (2009) Disc1 regulates granule cell migration in the developing hippocampus.  Hum Mol Genet.  Sep 1; 18(17): 3286-97.

Meyer K.D., Morris J.A. (2008) Immunohistochemical analysis of Disc1 expression in the developing postnatal and adult hippocampus.  Gene Expression Patters; 7(6): 672-679.



Drerup C.M., Ahlgren S., Morris J.A. (2007) Expression profiles of ndel1a and ndel1b, two orthologs of the NudE-Like gene, in the zebrafish. Gene Expr. Patterns; 7(6):672-679.

Austin C.P., Ky B., Ma L., Morris J.A., Shughrue P.J. (2004) Expression of Disc1, a Schizophrenia Associated Gene, is Predominant in the Hippocampus Throughout Development. Neuroscience; 24(1):3-10.

Malathi K., Higaki K., Tinkelenberg A., Erdenitz N., Wilcox L., Balderes D., Almanzar D., Redican F., Khan S., Alcantara F., Carstea G., Morris J.A., Sturley S.L. (2004) The Conserved, Primordial Role of NPC Proteins is to Transport Sphingolipids. J. Cell Biol.;64(4):547-56.

Payne Lab

Payne, C.J., Gallagher S.J., Foreman O., Dannenberg J.H., Depinho R.A., and Braun R.E.  (2010)  Sin3A is required by sertoli cells to establish a niche for undifferentiated spermatogonia, germ cell tumors, and spermatid elongaiton.  Stem Cells.  Aug; 28(8): 1424-34.

Payne, C.J. and Braun, R.E. (2008).  Human adult testis-derived pluripotent stem cells: revealing plasticity from the germline.  Cell Stem Cell 3:471-472. 

Sadate-Ngatchou, P.I., Payne, C.J., Dearth, A.T., and Braun, R.E. (2008).  Cre recombinase activity specific to postnatal, premeiotic male germ cells in transgenic mice.  genesis 46:738-742. 

Payne, C. and Braun R.E. (2006).  Glial cell line-derived neurotrophic factor maintains a POZ-itive influence on stem cells.  Proc Natl Acad Sci.  USA 103:9751-9752. 

Payne, C. and Braun R.E. (2006).  Histone lysine trimethylation exhibits a distinct perinuclear distribution in Plzf-expressing spermatogonia.  Dev Biol. 293:461-472. 

Rawe, V.Y., Payne, C., and Schatten G. (2006).  Profilin and actin-related proteins regulate microfilament dynamics during early mammalian embryogenesis.  Hum Reprod. 21:1143-1153. 

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