Literature DB >> 12036901

Narrowing and genomic annotation of the commonly deleted region of the 5q- syndrome.

Jacqueline Boultwood1, Carrie Fidler, Amanda J Strickson, Fiona Watkins, Susana Gama, Lyndal Kearney, Sabrina Tosi, Arek Kasprzyk, Jan-Fang Cheng, Rina J Jaju, James S Wainscoat.   

Abstract

The 5q- syndrome is the most distinct of the myelodysplastic syndromes, and the molecular basis for this disorder remains unknown. We describe the narrowing of the common deleted region (CDR) of the 5q- syndrome to the approximately 1.5-megabases interval at 5q32 flanked by D5S413 and the GLRA1 gene. The Ensembl gene prediction program has been used for the complete genomic annotation of the CDR. The CDR is gene rich and contains 24 known genes and 16 novel (predicted) genes. Of 40 genes in the CDR, 33 are expressed in CD34(+) cells and, therefore, represent candidate genes since they are expressed within the hematopoietic stem/progenitor cell compartment. A number of the genes assigned to the CDR represent good candidates for the 5q- syndrome, including MEGF1, G3BP, and several of the novel gene predictions. These data now afford a comprehensive mutational/expression analysis of all candidate genes assigned to the CDR.

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Year:  2002        PMID: 12036901     DOI: 10.1182/blood.v99.12.4638

Source DB:  PubMed          Journal:  Blood        ISSN: 0006-4971            Impact factor:   22.113


  81 in total

Review 1.  Molecular dissection of the 5q deletion in myelodysplastic syndrome.

Authors:  Benjamin L Ebert
Journal:  Semin Oncol       Date:  2011-10       Impact factor: 4.929

2.  The 5q- syndrome: biology and treatment.

Authors:  Eric Padron; Rami Komrokji; Alan F List
Journal:  Curr Treat Options Oncol       Date:  2011-12

Review 3.  When ribosomes go bad: diseases of ribosome biogenesis.

Authors:  Emily F Freed; Franziska Bleichert; Laura M Dutca; Susan J Baserga
Journal:  Mol Biosyst       Date:  2010-01-11

4.  Rb intrinsically promotes erythropoiesis by coupling cell cycle exit with mitochondrial biogenesis.

Authors:  Vijay G Sankaran; Stuart H Orkin; Carl R Walkley
Journal:  Genes Dev       Date:  2008-02-07       Impact factor: 11.361

5.  Defective ribosome biogenesis in myelodysplastic syndromes.

Authors:  Naomi Galili; Samir Ahmed Qasim; Azra Raza
Journal:  Haematologica       Date:  2009-10       Impact factor: 9.941

6.  Clonal evolution in myelodysplastic syndromes with isolated del(5q): the importance of genetic monitoring.

Authors:  Martin Jädersten; Aly Karsan
Journal:  Haematologica       Date:  2011-02       Impact factor: 9.941

7.  Lenalidomide inhibits the malignant clone and up-regulates the SPARC gene mapping to the commonly deleted region in 5q- syndrome patients.

Authors:  Andrea Pellagatti; Martin Jädersten; Ann-Mari Forsblom; Helen Cattan; Birger Christensson; Emma K Emanuelsson; Mats Merup; Lars Nilsson; Jan Samuelsson; Birgitta Sander; James S Wainscoat; Jacqueline Boultwood; Eva Hellström-Lindberg
Journal:  Proc Natl Acad Sci U S A       Date:  2007-06-18       Impact factor: 11.205

Review 8.  Cytogenetic and genetic pathways in therapy-related acute myeloid leukemia.

Authors:  Zhijian Qian; John M Joslin; Thelma R Tennant; Shalini C Reshmi; David J Young; Angela Stoddart; Richard A Larson; Michelle M Le Beau
Journal:  Chem Biol Interact       Date:  2009-12-01       Impact factor: 5.192

9.  MMP9 inhibition increases erythropoiesis in RPS14-deficient del(5q) MDS models through suppression of TGF-β pathways.

Authors:  Minyoung Youn; Haigen Huang; Cheng Chen; Sharon Kam; Mark C Wilkes; Hee-Don Chae; Kunju J Sridhar; Peter L Greenberg; Bertil Glader; Anupama Narla; Shuo Lin; Kathleen M Sakamoto
Journal:  Blood Adv       Date:  2019-09-24

10.  Congenital sideroblastic anemia due to mutations in the mitochondrial HSP70 homologue HSPA9.

Authors:  Klaus Schmitz-Abe; Szymon J Ciesielski; Paul J Schmidt; Dean R Campagna; Fedik Rahimov; Brenda A Schilke; Marloes Cuijpers; Klaus Rieneck; Birgitte Lausen; Michael L Linenberger; Anoop K Sendamarai; Chaoshe Guo; Inga Hofmann; Peter E Newburger; Dana Matthews; Akiko Shimamura; Pieter J L M Snijders; Meghan C Towne; Charlotte M Niemeyer; Henry G Watson; Morten H Dziegiel; Matthew M Heeney; Alison May; Sylvia S Bottomley; Dorine W Swinkels; Kyriacos Markianos; Elizabeth A Craig; Mark D Fleming
Journal:  Blood       Date:  2015-10-21       Impact factor: 22.113

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