Literature DB >> 23978614

Identification and characterization of novel alternative splice variants of human SAMD11.

Guorong Jin1, Chongde Long, Weiwei Liu, Yan Tang, Yujuan Zhu, Xin Zhou, Yang Ai, Qingjiong Zhang, Huangxuan Shen.   

Abstract

Sterile alpha motif domain-containing 11 (SAMD11) is evolutionarily conserved from zebrafish to human. Mouse Samd11 is predominantly expressed in developing retinal photoreceptors and the adult pineal gland, and its transcription is directly regulated by the cone-rod homeodomain protein Crx. However, there has been little research on human SAMD11. To investigate the function of human SAMD11, we first cloned its coding sequence (CDS) and identified up to 45 novel alternative splice variants (ASVs). Mouse Samd11 ASVs were also identified by aligning the mouse Samd11 expressed sequence tags (ESTs) with the annotated sequence. However, the range of expression and transcriptional regulation of SAMD11 differs between human and mouse. Human SAMD11 was found to be widely expressed in many cell lines and ocular tissues and its transcription was not regulated by CRX, OTX2 or NR2E3 proteins. Furthermore, functional analysis indicated that human SAMD11 could promote cell proliferation slightly. In conclusion, this study elucidated the basic characteristics of human SAMD11 and revealed that, although the occurrence of alternative splicing of SAMD11 was conserved, the function of SAMD11 may vary in different species.
© 2013 Elsevier B.V. All rights reserved.

Entities:  

Keywords:  (real-time) RT-PCR; (real-time) reverse transcription-polymerase chain reaction; AP-SAMD11; AS(V); Alternative splice variant; CDS; CRX; EST(s); Expression; FL-SAMD11; HCE; HREC; Human SAMD11; NMD; NR2E3; NRL; OTX2; PAX6; PBS; PTC; RPE; Regulation; SAM; SAMD11; SIX homeobox 3; SIX homeobox 6; SIX3; SIX6; alternative promoter SAMD11; alternative splicing (variant); coding sequence; cone-rod homeobox; expressed sequence tag(s); full-length human SAMD11; human corneal epithelium; human retinal microvascular endothelial cell; neural retina leucine zipper; nonsense-mediated mRNA decay; nuclear receptor subfamily 2, group E, member 3; orthodenticle homeobox 2; paired box 6; phosphate buffered saline; premature translation termination codons; retinal pigment epithelium; sterile alpha motif; sterile alpha motif domain containing 11

Mesh:

Substances:

Year:  2013        PMID: 23978614     DOI: 10.1016/j.gene.2013.08.033

Source DB:  PubMed          Journal:  Gene        ISSN: 0378-1119            Impact factor:   3.688


  6 in total

1.  Whole exome sequencing in extended families with autism spectrum disorder implicates four candidate genes.

Authors:  Nicola H Chapman; Alejandro Q Nato; Raphael Bernier; Katy Ankenman; Harkirat Sohi; Jeff Munson; Ashok Patowary; Marilyn Archer; Elizabeth M Blue; Sara Jane Webb; Hilary Coon; Wendy H Raskind; Zoran Brkanac; Ellen M Wijsman
Journal:  Hum Genet       Date:  2015-07-24       Impact factor: 4.132

2.  Replication of a rare risk haplotype on 1p36.33 for autism spectrum disorder.

Authors:  N H Chapman; R A Bernier; S J Webb; J Munson; E M Blue; D-H Chen; E Heigham; W H Raskind; Ellen M Wijsman
Journal:  Hum Genet       Date:  2018-10-01       Impact factor: 4.132

3.  Gene expression changes during retinal development and rod specification.

Authors:  Fiona C Mansergh; Matthew Carrigan; Karsten Hokamp; G Jane Farrar
Journal:  Mol Vis       Date:  2015-01-20       Impact factor: 2.367

4.  Identification of the Photoreceptor Transcriptional Co-Repressor SAMD11 as Novel Cause of Autosomal Recessive Retinitis Pigmentosa.

Authors:  M Corton; A Avila-Fernández; L Campello; M Sánchez; B Benavides; M I López-Molina; L Fernández-Sánchez; R Sánchez-Alcudia; L R J da Silva; N Reyes; E Martín-Garrido; O Zurita; P Fernández-San José; R Pérez-Carro; F García-García; J Dopazo; B García-Sandoval; N Cuenca; C Ayuso
Journal:  Sci Rep       Date:  2016-10-13       Impact factor: 4.379

5.  Elevated Expression of NOTCH1 Associates with Lymph Node Metastasis of Gastric Cancer and Knock-Down of NOTCH1 Attenuates Tumor Cell Progression.

Authors:  Bo Huang; Guorong Jin; Chongxiao Qu; Haining Ma; Caiyun Ding; Yali Zhang; Weiwei Liu; Weibing Li
Journal:  Med Sci Monit       Date:  2019-12-25

6.  Functional prediction of de novo uni-genes from chicken transcriptomic data following infectious bursal disease virus at 3-days post-infection.

Authors:  Sharanya Ravi; Mohd Hair-Bejo; Abdul Rahman Omar; Aini Ideris; Nurulfiza Mat Isa; Bahiyah Azli
Journal:  BMC Genomics       Date:  2021-06-19       Impact factor: 3.969

  6 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.