Dr. Y. Eugene Yu Dr. Y. Eugene Yu

Y. Eugene Yu


Special Interests:

Mouse-based molecular genetic analysis of trisomy 21 and other human genomic rearrangements

About Me


Dr. Yu received his PhD degree from the University of Texas at Austin. As a postdoctoral project investigator, he set up a transgenic mouse facility at MD Anderson Cancer Center Science Park. As a research associate in Marvin Meistrich’s laboratory at MD Anderson Cancer Center, he worked on generation and characterization of mouse mutants deficient in transition proteins. As a research associate/research assistant professor in Allan Bradley’s laboratory at Baylor College of Medicine, he generated chromosomal deletions and duplications to facilitate genetic analysis of mouse chromosome 11 and human chromosome 17. Currently, he is a faculty member of the Department of Cancer Genetics and Genomics, Genetics and Genomics Program, at Roswell Park Comprehensive Cancer Center, and Genetics, Genomics and Bioinformatics Program at the University at Buffalo. He directs the Children’s Guild Foundation Down Syndrome Research Program as well as the Gene Targeting and Transgenic Shared Resource at Roswell Park Comprehensive Cancer Center.




Roswell Park Comprehensive Cancer Center
  • Professor of Oncology
  • Department of Cancer Genetics and Genomics


Education and Training:

  • PhD (Biological Sciences) University of Texas at Austin


Research Overview:

One of the current focuses of Dr. Yu's laboratory is the molecular genetic analysis of human trisomy 21 (Down syndrome). Trisomy 21 is the most frequent live-born human aneuploidy. In the United States, trisomy 21 occurs in approximately one in 691 newborns. Trisomy 21 is the most common genetic cause of congenital heart disease and cognitive deficits. It is a leading genetic cause of megakaryoblastic leukemia and early-onset Alzheimer-type neurodegeneration. The mouse is the premier model organism for Down syndrome because of the existence of highly conserved orthologous regions between human chromosome 21 and three segments of the mouse genome on mouse chromosomes 10, 16 and 17. Using recombinase-mediated chromosome engineering, Dr. Yu’s laboratory has developed the most complete Down syndrome model to date, which carries the duplications spanning the entire human chromosome 21 orthologous regions on three mouse chromosomes. The laboratory is currently in the process of generating and analyzing new mouse mutants that carry the desired duplications and deletions of the human chromosome 21 orthologous regions in order to narrow down the genomic regions associated with the trisomy 21 phenotypes. Their goal is to identify the dosage-sensitive genes underlying the phenotypes.

Dr. Yu's laboratory is also interested in the mouse-based genetic dissection of tumor-associated chromosomal rearrangements. Such efforts should facilitate the establishment of critical genetic alterations in the formation of various types of human tumors.



Yu YE, Zhang Y, Unni E, Shirley CR, Deng JM, Russell LD, Weil MM, Behringer RR, Meistrich ML. Abnormal spermatogenesis and reduced fertility in transition nuclear protein 1-deficient mice. Proc Natl Acad Sci U S A. 2000 Apr 25;97(9):4683-8.

Yu Y, Bradley A. Engineering chromosomal rearrangements in mice. Nat Rev Genet. 2001 Oct;2(10):780-90. PMID: 11584294.

Adams DJ, Biggs PJ, Cox T, Davies R, van der Weyden L, Jonkers J, Smith J, Plumb B, Taylor R, Nishijima I, Yu Y, Rogers J, Bradley A. Mutagenic insertion and chromosome engineering resource (MICER). Nat Genet. 2004 Aug;36(8):867-71. PMID: 15235602.

Li Z, Yu T, Morishima M, Pao A, LaDuca J, Conroy J, Nowak N, Matsui S, Shiraishi I, Yu YE. Duplication of the entire 22.9 Mb human chromosome 21 syntenic region on mouse chromosome 16 causes cardiovascular and gastrointestinal abnormalities. Hum Mol Genet. 2007 Jun 1;16(11):1359-66. PMID: 17412756.

Yu T, Li Z, Jia Z, Clapcote SJ, Liu C, Li S, Asrar S, Pao A, Chen R, Fan N, Carattini-Rivera S, Bechard AR, Spring S, Henkelman RM, Stoica G, Matsui S, Nowak NJ, Roder JC, Chen C, Bradley A, Yu YE. A mouse model of Down syndrome trisomic for all human chromosome 21 syntenic regions. Hum Mol Genet. 2010 Jul 15;19(14):2780-91. PMCID: PMC2893810.

Zhang L, Meng K, Jiang X, Liu C, Pao A, Belichenko PV, Kleschevnikov AM, Josselyn S, Liang P, Ye P, Mobley WC, Yu YE. Human chromosome 21 orthologous region on mouse chromosome 17 is a major determinant of Down syndrome-related developmental cognitive deficits. Hum Mol Genet. 2014 Feb 1;23(3):578-89. PMCID: PMC3888256.

Grandi FC, Rosser JM, Newkirk SJ, Yin J, Jiang X, Xing Z, Whitmore L, Bashir S, Ivics Z, Izsvák Z, Ye P, Yu YE, An W Retrotransposition creates sloping shores: a graded influence of hypomethylated CpG islands on flanking CpG sites. Genome Res 2015 Aug 25(8):1135-46. PMCID:PMC4509998.

Jiang X, Liu C, Yu T, Zhang L, Meng K, Xing Z, Belichenko PV, Kleschevnikov AM, Pao A, Peresie J, Wie S, Mobley WC, Yu YE. Genetic dissection of the Down syndrome critical region. Hum Mol Genet. 2015 Nov 15;24(22):6540-51. PMCID:PMC4614710.

Mendioroz M, Do C, Jiang X, Liu C, Darbary HK, Lang CF, Lin J, Thomas A, Abu-Amero S, Stanier P, Temkin A, Yale A, Liu M-M, Li Y, Salas M, Kerkel K, Capone G, Silverman W, Yu YE, Moore G, Wegiel J, Tycko B. Trans-effects of chromosome aneuploidies on DNA methylation patterns: mechanistic insights from analysis of human Down syndrome and mouse models. Genome Biol 2015, Nov 25, 16:263. PMCID:PMC4659173.

Do C, Xing Z, Yu YE*, Tycko B*. Trans-acting epigenetic effects of chromosomal aneuploidies: lessons from Down syndrome and mouse models. Epigenomics 2017 Feb 9(2):189-207. PMCID:PMC5549717. * Equal contribution.