Literature DB >> 12160729

BCL8 is a novel, evolutionarily conserved human gene family encoding proteins with presumptive protein kinase A anchoring function.

Vadim G Dyomin1, Seeta R Chaganti, Katerina Dyomina, Nallasivam Palanisamy, Vundavalli V V S Murty, Riccardo Dalla-Favera, R S K Chaganti.   

Abstract

BCL8 is a novel human gene family initially identified through cloning of BCL8A, located at the t(14;15)(q32;q11-q13) translocation breakpoint, in a case of diffuse large B-cell lymphoma. Multiple copies of BCL8A map to the 1-Mb proximal duplicated region at 15q. We identified additional copies on human chromosomes 13 (BCL8B), 22 (BCL8C), 2 (BCL8D), and 10 (BCL8E) by cDNA cloning and sequence analysis. BCL8A, BCL8C, BCL8D, and BCL8E are truncated at the genomic level and are presumably pseudogenes or sterile transcripts. BCL8B is expressed predominantly in human brain and encodes a 327-kDa protein with extensive homology to the Drosophila melanogaster protein kinase A anchoring protein RG. LRBA, a human gene with a ubiquitous expression pattern mapping to 4q32, encodes a protein closely related to BCL8. The phylogenetically conserved BCL8 gene family evolved by transchromosomal and intrachromosomal duplications within the human genome.

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Year:  2002        PMID: 12160729     DOI: 10.1006/geno.2002.6822

Source DB:  PubMed          Journal:  Genomics        ISSN: 0888-7543            Impact factor:   5.736


  5 in total

Review 1.  Spectrum of Phenotypes Associated with Mutations in LRBA.

Authors:  Omar K Alkhairy; Hassan Abolhassani; Nima Rezaei; Mingyan Fang; Kasper Krogh Andersen; Zahra Chavoshzadeh; Iraj Mohammadzadeh; Mariam A El-Rajab; Michel Massaad; Janet Chou; Asghar Aghamohammadi; Raif S Geha; Lennart Hammarström
Journal:  J Clin Immunol       Date:  2015-12-28       Impact factor: 8.317

2.  Proteomic analysis of V-ATPase-rich cells harvested from the kidney and epididymis by fluorescence-activated cell sorting.

Authors:  Nicolas Da Silva; Trairak Pisitkun; Clémence Belleannée; Lance R Miller; Raoul Nelson; Mark A Knepper; Dennis Brown; Sylvie Breton
Journal:  Am J Physiol Cell Physiol       Date:  2010-02-24       Impact factor: 4.249

Review 3.  The BEACH is hot: a LYST of emerging roles for BEACH-domain containing proteins in human disease.

Authors:  Andrew R Cullinane; Alejandro A Schäffer; Marjan Huizing
Journal:  Traffic       Date:  2013-04-24       Impact factor: 6.215

4.  Neurobeachin (NBEA) is a target of recurrent interstitial deletions at 13q13 in patients with MGUS and multiple myeloma.

Authors:  Julie O'Neal; Feng Gao; Anjum Hassan; Ryan Monahan; Samantha Barrios; Manfred W Kilimann; Ian Lee; Wee J Chng; Ravi Vij; Michael H Tomasson
Journal:  Exp Hematol       Date:  2009-02       Impact factor: 3.084

5.  Deleterious mutations in LRBA are associated with a syndrome of immune deficiency and autoimmunity.

Authors:  Gabriela Lopez-Herrera; Giacomo Tampella; Qiang Pan-Hammarström; Peer Herholz; Claudia M Trujillo-Vargas; Kanchan Phadwal; Anna Katharina Simon; Michel Moutschen; Amos Etzioni; Adi Mory; Izhak Srugo; Doron Melamed; Kjell Hultenby; Chonghai Liu; Manuela Baronio; Massimiliano Vitali; Pierre Philippet; Vinciane Dideberg; Asghar Aghamohammadi; Nima Rezaei; Victoria Enright; Likun Du; Ulrich Salzer; Hermann Eibel; Dietmar Pfeifer; Hendrik Veelken; Hans Stauss; Vassilios Lougaris; Alessandro Plebani; E Michael Gertz; Alejandro A Schäffer; Lennart Hammarström; Bodo Grimbacher
Journal:  Am J Hum Genet       Date:  2012-05-17       Impact factor: 11.025

  5 in total

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