Experts and Doctors on gene duplication in Boston, Massachusetts, United States


Locale: Boston, Massachusetts, United States
Topic: gene duplication

Top Publications

  1. Akten B, Suh J, Genova G, Roberts M, Jackson F. RNA interference from a CAX trinucleotide repeat. Genesis. 2002;34:156-9 pubmed
  2. Zheng Y, Roberts R, Kasif S. Segmentally variable genes: a new perspective on adaptation. PLoS Biol. 2004;2:E81 pubmed
    ..Discerning their function and identifying their binding partners may offer biologists new insights into the basic mechanisms of adaptation, context-dependent evolution, and the interaction between microbes and their environment. ..
  3. Stanvitch G, Moore L. cin-4, a gene with homology to topoisomerase II, is required for centromere resolution by cohesin removal from sister kinetochores during mitosis. Genetics. 2008;178:83-97 pubmed publisher
  4. Mills R, Walter K, Stewart C, Handsaker R, Chen K, Alkan C, et al. Mapping copy number variation by population-scale genome sequencing. Nature. 2011;470:59-65 pubmed publisher
    ..Our analytical framework and SV map serves as a resource for sequencing-based association studies. ..
  5. Wang D, Wang W, Dawkins P, Paterson T, Kalsheker N, Sallenave J, et al. Deletion of Serpina1a, a murine ?1-antitrypsin ortholog, results in embryonic lethality. Exp Lung Res. 2011;37:291-300 pubmed publisher
    ..These results highlight important differences between human and murine serpins and point to the difficulty inherent to using gene-targeted mice to study this common human genetic disease. ..
  6. Serluca F, Sidow A, Mably J, Fishman M. Partitioning of tissue expression accompanies multiple duplications of the Na+/K+ ATPase alpha subunit gene. Genome Res. 2001;11:1625-31 pubmed
    ..The duplications are accompanied by acquisition of clear functional specialization, consistent with the DDC model of genome evolution. ..
  7. Miller D, Shen Y, Weiss L, Korn J, Anselm I, Bridgemohan C, et al. Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders. J Med Genet. 2009;46:242-8 pubmed publisher
    ..Recognition of this broader phenotype has implications for clinical diagnostic testing and efforts to understand the underlying aetiology of this syndrome. ..
  8. DeLuna A, Springer M, Kirschner M, Kishony R. Need-based up-regulation of protein levels in response to deletion of their duplicate genes. PLoS Biol. 2010;8:e1000347 pubmed publisher
    ..Physiologically, such need-based responsiveness could provide an adaptive mechanism for compensation of genetic, environmental, or stochastic perturbations in protein abundance. ..
  9. Cui J, Das S, Smith T, Samuelson J. Trichomonas transmembrane cyclases result from massive gene duplication and concomitant development of pseudogenes. PLoS Negl Trop Dis. 2010;4:e782 pubmed publisher
    ..With the goal of beginning to understand why some Trichomonas genes are present in so many copies, we characterized here a family of approximately 123 Trichomonas genes that encode transmembrane adenylyl cyclases (TMACs)...

More Information


  1. Fischer S, Montgomery T, Zhang C, Fahlgren N, Breen P, Hwang A, et al. The ERI-6/7 helicase acts at the first stage of an siRNA amplification pathway that targets recent gene duplications. PLoS Genet. 2011;7:e1002369 pubmed publisher
    ..Thus, like several other siRNA-associated Argonautes with a conserved RNaseH motif, ERGO-1 appears to be required for siRNA maturation. ..
  2. Mariotti M, Ridge P, Zhang Y, Lobanov A, Pringle T, Guigo R, et al. Composition and evolution of the vertebrate and mammalian selenoproteomes. PLoS ONE. 2012;7:e33066 pubmed publisher
    ..This analysis represents the first comprehensive survey of the vertebrate and mammal selenoproteomes, and depicts their evolution along lineages. It also provides a wealth of information on these selenoproteins and their forms. ..
  3. Boettger L, Handsaker R, Zody M, McCarroll S. Structural haplotypes and recent evolution of the human 17q21.31 region. Nat Genet. 2012;44:881-5 pubmed publisher
    ..An older H2 form lacking such a duplication is present at low frequency in European and central African hunter-gatherer populations. We further show that complex genome structures can be analyzed by imputation from SNPs. ..
  4. Lane A, Chapuy B, Lin C, Tivey T, Li H, Townsend E, et al. Triplication of a 21q22 region contributes to B cell transformation through HMGN1 overexpression and loss of histone H3 Lys27 trimethylation. Nat Genet. 2014;46:618-23 pubmed publisher
    ..Overexpression of HMGN1, a nucleosome remodeling protein encoded on chromosome 21q22 (refs. 3,4,5), suppresses H3K27me3 and promotes both B cell proliferation in vitro and B-ALL in vivo. ..
  5. Ewen Campen B, Mohr S, Hu Y, Perrimon N. Accessing the Phenotype Gap: Enabling Systematic Investigation of Paralog Functional Complexity with CRISPR. Dev Cell. 2017;43:6-9 pubmed publisher
    ..We discuss the complexity associated with studying paralogs and outline how recent advances in CRISPR will help address the "phenotype gap" and impact biomedical research. ..