Literature DB >> 8031013

The SON gene encodes a conserved DNA binding protein mapping to human chromosome 21.

I M Khan1, R A Fisher, K J Johnson, M E Bailey, M J Siciliano, A M Kessling, M Farrer, B Carritt, T Kamalati, L Buluwela.   

Abstract

We report the identification and characterization of a clone for the DNA binding protein SON, which we have isolated from a human keratinocyte cDNA library. Using this clone we have found that the SON gene is expressed in different cell types and that homologous sequences can be detected in vertebrate and insect genomic DNA. Using the polymerase chain reaction (PCR) to amplify SON sequences from a panel of somatic cell hybrids we have assigned the gene encoding human SON to chromosome 21. By use of hybrids containing regions of chromosome 21 the localization has been refined to 21q 22.1-q22.2.

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Year:  1994        PMID： 8031013     DOI： 10.1111/j.1469-1809.1994.tb00723.x

Source DB:  PubMed          Journal:  Ann Hum Genet        ISSN： 0003-4800            Impact factor:   1.670


  8 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.  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

4.  SON DNA-binding protein mediates macrophage autophagy and responses to intracellular infection.

Authors:  David J Gregory; Glen M DeLoid; Sharon L Salmon; Dennis W Metzger; Igor Kramnik; Lester Kobzik
Journal:  FEBS Lett       Date:  2020-06-19       Impact factor: 4.124

Review 5.  Clinical and genetic analysis of ZTTK syndrome caused by SON heterozygous mutation c.394C>T.

Authors:  Yu Yang; Lei Xu; Zhen Yu; Hui Huang; Li Yang
Journal:  Mol Genet Genomic Med       Date:  2019-09-26       Impact factor: 2.183

6.  Expression of fibroblast growth factor 1 is lower in breast cancer than in the normal human breast.

Authors:  G S Bansal; C Yiangou; R C Coope; J J Gomm; Y A Luqmani; R C Coombes; C L Johnston
Journal:  Br J Cancer       Date:  1995-12       Impact factor: 7.640

7.  A de novo heterozygous variant in the SON gene is associated with Zhu-Tokita-Takenouchi-Kim syndrome.

Authors:  Lianlian Yang; Fan Yang
Journal:  Mol Genet Genomic Med       Date:  2020-09-14       Impact factor: 2.183

8.  A novel frameshift variant in SON causes Zhu-Tokita-Takenouchi-Kim Syndrome.

Authors:  Ya Tan; Ling Duan; Kai Yang; Qian Liu; Jing Wang; Zhe Dong; Zhi Li; Yiwen He; Yousheng Yan; Li Lin
Journal:  J Clin Lab Anal       Date:  2020-04-14       Impact factor: 2.352
  8 in total

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