Literature DB >> 10950926

Organization and conservation of the GART/SON/DONSON locus in mouse and human genomes.

S L Wynn1, R A Fisher, C Pagel, M Price, Q Y Liu, I M Khan, P Zammit, K Dadrah, W Mazrani, A Kessling, J S Lee, L Buluwela.   

Abstract

The SON gene, which maps to human chromosome 21q22.1-q22.2, encodes a novel regulatory protein. Here we describe the organization of the Son locus in the mouse genome. The mouse Son gene spans a region of approximately 35 kb. The coding region is more than 8 kb in length and has been completely sequenced. The gene is organized into 11 coding exons and 1 noncoding 3'UTR exon, with over 70% of the coding region residing in one 5.7-kb exon. The gene contains at least one alternative exon, N/C exon 1, which can be used, by splicing, to generate a truncated form of the SON protein. Further investigation of the mouse Son locus has identified the genes directly flanking Son. The glycinamide ribonucleotide formyltransferase gene, Gart, is encoded 5' of Son in a head-to-head arrangement, with the start of both genes lying within 899 bp. Sequence comparison with the expressed sequence tagged database identified a novel gene within 65 bp of the 3' end of Son, which we have named Donson. In this unusually compact gene cluster, we have found overlap in the pattern of expression between Gart, Son, and Donson. However, at least two of these genes have very different functions. While GART is involved in purine biosynthesis, we find that SON shows the characteristics of "SR- type" proteins, which are involved in mRNA processing and gene expression. Copyright 2000 Academic Press.

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Year:  2000        PMID: 10950926     DOI: 10.1006/geno.2000.6254

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


  20 in total

1.  SON connects the splicing-regulatory network with pluripotency in human embryonic stem cells.

Authors:  Xinyi Lu; Jonathan Göke; Friedrich Sachs; Pierre-Étienne Jacques; Hongqing Liang; Bo Feng; Guillaume Bourque; Paula A Bubulya; Huck-Hui Ng
Journal:  Nat Cell Biol       Date:  2013-09-08       Impact factor: 28.824

Review 2.  The role of SON in splicing, development, and disease.

Authors:  Xinyi Lu; Huck-Hui Ng; Paula A Bubulya
Journal:  Wiley Interdiscip Rev RNA       Date:  2014-04-30       Impact factor: 9.957

3.  Rapid DNA Synthesis During Early Drosophila Embryogenesis Is Sensitive to Maternal Humpty Dumpty Protein Function.

Authors:  Shera Lesly; Jennifer L Bandura; Brian R Calvi
Journal:  Genetics       Date:  2017-09-23       Impact factor: 4.562

4.  Evolutionarily conserved sequences on human chromosome 21.

Authors:  K A Frazer; J B Sheehan; R P Stokowski; X Chen; R Hosseini; J F Cheng; S P Fodor; D R Cox; N Patil
Journal:  Genome Res       Date:  2001-10       Impact factor: 9.043

5.  SON controls cell-cycle progression by coordinated regulation of RNA splicing.

Authors:  Eun-Young Ahn; Russell C DeKelver; Miao-Chia Lo; Tuyet Ann Nguyen; Shinobu Matsuura; Anita Boyapati; Shatakshi Pandit; Xiang-Dong Fu; Dong-Er Zhang
Journal:  Mol Cell       Date:  2011-04-22       Impact factor: 17.970

6.  Disruption of the NHR4 domain structure in AML1-ETO abrogates SON binding and promotes leukemogenesis.

Authors:  Eun-Young Ahn; Ming Yan; Oxana A Malakhova; Miao-Chia Lo; Anita Boyapati; Hans Beier Ommen; Robert Hines; Peter Hokland; Dong-Er Zhang
Journal:  Proc Natl Acad Sci U S A       Date:  2008-10-24       Impact factor: 11.205

7.  Genetic variations in the one-carbon metabolism pathway genes and susceptibility to hepatocellular carcinoma risk: a case-control study.

Authors:  Heng Zhang; Chunhe Liu; Yu-Chen Han; Zuohong Ma; Haiyan Zhang; Yinan Ma; Xiaofang Liu
Journal:  Tumour Biol       Date:  2014-10-16

8.  SON and Its Alternatively Spliced Isoforms Control MLL Complex-Mediated H3K4me3 and Transcription of Leukemia-Associated Genes.

Authors:  Jung-Hyun Kim; Melody C Baddoo; Eun Young Park; Joshua K Stone; Hyeonsoo Park; Thomas W Butler; Gang Huang; Xiaomei Yan; Florencia Pauli-Behn; Richard M Myers; Ming Tan; Erik K Flemington; Ssang-Taek Lim; Eun-Young Erin Ahn
Journal:  Mol Cell       Date:  2016-03-17       Impact factor: 17.970

9.  De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive.

Authors:  Mari J Tokita; Alicia A Braxton; Yunru Shao; Andrea M Lewis; Marie Vincent; Sébastien Küry; Thomas Besnard; Bertrand Isidor; Xénia Latypova; Stéphane Bézieau; Pengfei Liu; Connie S Motter; Catherine Ward Melver; Nathaniel H Robin; Elena M Infante; Marianne McGuire; Areeg El-Gharbawy; Rebecca O Littlejohn; Scott D McLean; Weimin Bi; Carlos A Bacino; Seema R Lalani; Daryl A Scott; Christine M Eng; Yaping Yang; Christian P Schaaf; Magdalena A Walkiewicz
Journal:  Am J Hum Genet       Date:  2016-08-18       Impact factor: 11.025

10.  Son is essential for nuclear speckle organization and cell cycle progression.

Authors:  Alok Sharma; Hideaki Takata; Kei-ichi Shibahara; Athanasios Bubulya; Paula A Bubulya
Journal:  Mol Biol Cell       Date:  2010-01-06       Impact factor: 4.138

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