Alison Ann Bertuch, M.D., Ph.D.

Professor

(832) 824-4579

Email

abertuch@bcm.edu

Positions

Professor: Pediatrics-Oncology
Baylor College of Medicine
Houston, TX, US

Professor: Molecular and Human Genetics
Baylor College of Medicine
Houston, Texas, United States

Member: Dan L Duncan Comprehensive Cancer Center
Baylor College of Medicine
Houston, Texas, United States

Education

BS from Massachusetts Institute Of Technology: 05/1985 - Cambridge, MA, United States

MD from University Of Rochester School Of Medicine And Dentistry: 05/1993 - Rochester, NY, United States

PhD from University Of Rochester: 05/1993 - Rochester, NY, United States

Internship at Baylor College Of Medicine Affiliate Hospitals: 07/1993 - Houston, TX, United States; Pediatrics

Residency at Baylor College Of Medicine Affiliate Hospitals: 07/1994 - Houston, TX, United States; Pediatrics

Clinical Fellowship at Baylor College of Medicine: 07/1996 - Houston, Texas, United States; Pediatric Hematology/Oncology

Postdoctoral Training at Baylor College of Medicine: 08/1997 - Houston, Texas, United States

Honors & Awards

American Society for Clinical Investigation: 2014

Society for Pediatric Research: 2012

Baylor College of Medicine Department of Pediatrics Research Mentorship Award: 2012

Professional Interests

Telomere Biology Disorders
Basic mechanisms of telomere maintenance, structure, and function and DNA repair in the yeast model organism and human cells

Websites

Texas Children's Cancer and Hematology Centers

VIICTR

My Bibliography

Selected Publications

Ribes-Zamora A*, Indiviglio S*, Mihalek I, Williams CL, Bertuch AA. " TRF2 interaction with Ku heterotetramerization interface gives insight into prevention of c-NHEJ at human telomeres. " Cell Rep.. 2013 17; 5 (1) : 194-206.
Pubmed PMID: 24095731.
Gramatges MM, Bertuch AA. " Short telomeres: from dyskeratosis congenita to sporadic aplastic anemia and malignancy. " Transl Res.. 2013 ; 162 (6) : 353-63.
Pubmed PMID: 23732052.
Churpek JE, Lorenz R, Nedumgottil S, Onel K, Olopade OI, Sorrell A, Owen CJ, Bertuch AA, Godley LA. " Proposal for the clinical detection and management of patients and their family members with familial myelodysplastic syndrome/acute leukemia predisposition syndromes. " Leuk. Lymphoma. 2013 Jan ; 54 (1) : 28-35.
Pubmed PMID: 22691122.
Nelson ND, Bertuch AA. " Dyskeratosis congenita as a disorder of telomere maintenance. " Mutat. Res.. 2012 Feb 1; 730 (41276) : 43-51.
Pubmed PMID: 21745483.
Sasa GS, Ribes-Zamora A, Nelson ND, Bertuch AA. " Three novel truncating TINF2 mutations causing severe dyskeratosis congenita in early childhood. " Clin. Genet.. 2012 May ; 81 (5) : 470-8.
Pubmed PMID: 21477109.
Canudas S, Houghtaling BR, Bhanot M, Sasa G, Savage SA, Bertuch AA, Smith S. " A role for heterochromatin protein 1{gamma} at human telomeres. " Genes Dev.. 2011 Sep 1; 25 (17) : 1807-19.
Pubmed PMID: 21865325.
Lopez CR, Ribes-Zamora A, Indiviglio SM, Williams CL, Haricharan S, Bertuch AA. " Ku must load directly onto the chromosome end in order to mediate its telomeric functions. " PLoS Genet.. 2011 Aug ; 7 (8) : e1002233.
Pubmed PMID: 21852961.
Stewart SA, Bertuch AA. " The role of telomeres and telomerase in cancer research. " Cancer Res.. 2010 Oct 1; 70 (19) : 7365-71.
Pubmed PMID: 20841475.
Savage SA, Bertuch AA. " The genetics and clinical manifestations of telomere biology disorders. " Genet. Med.. 2010 Dec ; 12 (12) : 753-64.
Pubmed PMID: 21189492.
Ribes-Zamora A, Mihalek I, Lichtarge O, Bertuch AA. " Distinct faces of the Ku heterodimer mediate DNA repair and telomeric functions. " Nat. Struct. Mol. Biol.. 2007 Apr ; 14 (4) : 301-7.
Pubmed PMID: 17351632.
Bertuch AA, Lundblad V. " The maintenance and masking of chromosome termini. " Curr. Opin. Cell Biol.. 2006 Jun ; 18 (3) : 247-53.
Pubmed PMID: 16682180.
Bertuch AA, Lundblad V. " EXO1 contributes to telomere maintenance in both telomerase-proficient and telomerase-deficient Saccharomyces cerevisiae. " Genetics. 2004 Apr ; 166 (4) : 1651-9.
Pubmed PMID: 15126387.
Bertuch AA, Lundblad V. " The Ku heterodimer performs separable activities at double-strand breaks and chromosome termini. " Mol. Cell. Biol.. 2003 Nov ; 23 (22) : 8202-15.
Pubmed PMID: 14585978.
Bertuch A, Lundblad V. " Telomeres and double-strand breaks: trying to make ends meet. " Trends Cell Biol.. 1998 Sep ; 8 (9) : 339-42.
Pubmed PMID: 9728393.
Williams JM, Ouenzar F, Lemon LD, Chartrand P, Bertuch AA. " The principal role of Ku in telomere length maintenance is promotion of Est1 association with telomeres " Genetics. 2014 Apr 11; 289 : 10308-17.
Pubmed PMID: 24879463.
Gramatges MM, Qi X, Sasa GS, Chen JJ, Bertuch AA. " A homozygous telomerase T-motif variant resulting in markedly reduced repeat addition processivity in siblings with Hoyeraal Hreidarsson syndrome. " Blood. 2013 May 2; 121 (18) : 3586-93.
Pubmed PMID: 23538340.
Carvalho CM, Zuccherato LW, Williams CL, Neill NJ, Murdock DR, Bainbridge M, Jhangiani SN, Muzny DM, Gibbs RA, Ip W, Guillerman RP, Lupski JR, Bertuch AA. " Structural variation and missense mutation in SBDS associated with Shwachman-Diamond syndrome " BMC Med Genet.. 2014 Jun 4; 15 : 64.
Pubmed PMID: 24898207.
Marvin ME, Becker MM, Noel P, Hardy S, Bertuch AA, Louis EJ. " The association of yKu with subtelomeric core X sequences prevents recombination involving telomeric sequences. " Genetics. 2009 Oct ; 183 (2) : 453-67, 1SI-13S.
Pubmed PMID: 19652176.
Bertuch AA. " Telomeres: the molecular events driving end-to-end fusions. " Curr. Biol.. 2002 Oct 29; 12 (21) : R738-40.
Pubmed PMID: 12419205.
Evans SK, Bertuch AA, Lundblad V. " Telomeres and telomerase: at the end, it all comes together. " Trends Cell Biol.. 1999 Aug ; 9 (8) : 329-31.
Pubmed PMID: 10490336.
Understanding the evolving phenotype of vascular complications in telomere biology disorders. " ;
Pubmed PMID: 30168024.
Bertuch AA, Buckley K, Lundblad V. " The way to the end matters--the role of telomerase in tumor progression. " Cell Cycle. ; 2 (1) : 36-8.
Pubmed PMID: 12695685.
Bertuch AA, Lundblad V. " Which end: dissecting Ku's function at telomeres and double-strand breaks. " Genes Dev.. 2003 Oct 1; 17 (19) : 2347-50.
Pubmed PMID: 14522942.
Kim CH, Heath C, Bertuch A, Hansen U. " Specific stimulation of simian virus 40 late transcription in vitro by a cellular factor binding the simian virus 40 21-base-pair repeat promoter element. " Proc. Natl. Acad. Sci. U.S.A.. 1987 Sep ; 84 (17) : 6025-9.
Pubmed PMID: 2819862.
Liti G, Haricharan S, Cubillos FA, Tierney AL, Sharp S, Bertuch AA, Parts L, Bailes E, Louis EJ. " Segregating YKU80 and TLC1 alleles underlying natural variation in telomere properties in wild yeast. " PLoS Genet.. 2009 Sep ; 5 (9) : e1000659.
Pubmed PMID: 19763176.
Horton TM, Jenkins G, Pati D, Zhang L, Dolan ME, Ribes-Zamora A, Bertuch AA, Blaney SM, Delaney SL, Hegde M, Berg SL. " Poly(ADP-ribose) polymerase inhibitor ABT-888 potentiates the cytotoxic activity of temozolomide in leukemia cells: influence of mismatch repair status and O6-methylguanine-DNA methyltransferase activity. " Mol. Cancer Ther.. 2009 Aug ; 8 (8) : 2232-42.
Pubmed PMID: 19671751.
Flannery TK, Kirkland JL, Copeland KC, Bertuch AA, Karaviti LP, Brandt ML. " Papillary thyroid cancer: a pediatric perspective. " Pediatrics. 1996 Sep ; 98 (3) : 464-6.
Pubmed PMID: 8784379.
Olofsson P, Bertuch AA. " Modeling growth and telomere dynamics in Saccharomyces cerevisiae. " J. Theor. Biol.. 2010 Apr 7; 263 (3) : 353-9.
Pubmed PMID: 20018194.
Gramatges MM, Bertuch AA. " Measuring relative telomere length: Is tissue an issue? " Aging (Albany NY). 2010 Nov ; 2 (11) : 756-7.
Pubmed PMID: 21113083.
Indiviglio SM, Bertuch AA. " Ku's essential role in keeping telomeres intact. " Proc. Natl. Acad. Sci. U.S.A.. 2009 Jul 28; 106 (30) : 12217-8.
Pubmed PMID: 19622731.
Russell H, Hicks MJ, Bertuch AA, Chintagumpala M. " Infantile fibrosarcoma: clinical and histologic responses to cytotoxic chemotherapy. " Pediatr Blood Cancer. 2009 Jul ; 53 (1) : 23-7.
Pubmed PMID: 19340853.
Hermanns P, Bertuch AA, Bertin TK, Dawson B, Schmitt ME, Shaw C, Zabel B, Lee B. " Consequences of mutations in the non-coding RMRP RNA in cartilage-hair hypoplasia. " Hum. Mol. Genet.. 2005 Dec 1; 14 (23) : 3723-40.
Pubmed PMID: 16254002.
Delario MR, Sheehan AM, Ataya R, Bertuch AA, Vega C, Webb CR, Lopez-Terrada D, Venkateswaran L. " Clinical, histopathologic, and genetic features of pediatric primary myelofibrosis-An entity different from adults. " Am. J. Hematol.. 2012 May ; 87 (5) : 461-4.
Pubmed PMID: 22389089.
Muscal JA, Jones JY, Paulino AC, Bertuch AA, Su J, Woo SY, Mahoney DH, Chintagumpala M. " Changes mimicking new leptomeningeal disease after intensity-modulated radiotherapy for medulloblastoma. " Int. J. Radiat. Oncol. Biol. Phys.. 2009 Jan 1; 73 (1) : 214-21.
Pubmed PMID: 18485616.
Cheung HC, San Lucas FA, Hicks S, Chang K, Bertuch AA, Ribes-Zamora A. " An S/T-Q cluster domain census unveils new putative targets under Tel1/Mec1 control. " BMC Genomics. 2012 ; 13 : 664.
Pubmed PMID: 23176708.
Yustein JT, Rednam S, Bertuch AA, Goss JA, Brandt ML, Eldin K, Lu X, Hicks J. " Abdominal undifferentiated small round cell tumor with unique translocation (X;19)(q13;q13.3). " Pediatr Blood Cancer. 2010 Jul 1; 54 (7) : 1041-4.
Pubmed PMID: 20162687.

Memberships

American Society of Hematology: Active Member

Team Telomere: Medical Advisory Board member

North American Pediatric Aplastic Anemia Consortium: Steering Committee Member