Literature DB >> 27696975

A genetic features and gene interaction study for identifying the genes that cause hereditary spherocytosis.

Jing Chen1, Yang Zhou2, Yaqi Gao3, Weijie Cao2, Hui Sun2, Yanfang Liu2, Chong Wang2.   

Abstract

OBJECTIVE: Hereditary spherocytosis (HS) is a hemolytic disorder characterized by the presence of spherical-shaped red blood cells on the peripheral blood smear. Non-dominant HS cases are due to de novo mutations of the type associated with dominant inheritance or recessive genes. This study is aimed to identify HS-related biological mechanisms and predicting HS candidate genes.
METHODS: We searched the known HS-related genes from the public databases. By analyzing the gene ontology (GO) and biological pathway of these genes, we extracted the optimal features to encode HS genes. Based on them, we predicted the HS-related genes from genes of whole genomes using the Random Forest classification. We used the gene interaction networks analysis to further identify the core regulatory genes that were related to HS.
RESULTS: Forty-one known HS-related genes were found out and encoded. Three hundred and sixty-seven GO terms and ten biological pathway terms were identified as the optimal features for prediction. We subsequently predicted 150 novel HS-related genes and identified the core regulatory genes in the interaction network of predicted and known genes. These features and genes that we identified could complement the genetic features of HS.

Entities:  

Keywords:  Hereditary spherocytosis; core regulatory genes; gene interaction network; gene ontology

Mesh:

Year:  2016        PMID: 27696975     DOI: 10.1080/10245332.2016.1235673

Source DB:  PubMed          Journal:  Hematology        ISSN: 1024-5332            Impact factor:   2.269


  4 in total

Review 1.  Old and new insights into the diagnosis of hereditary spherocytosis.

Authors:  Olga Ciepiela
Journal:  Ann Transl Med       Date:  2018-09

2.  Identification of a De Novoc.1000delA ANK1 mutation associated to hereditary spherocytosis in a neonate with Coombs-negative hemolytic jaundice-case reports and review of the literature.

Authors:  Lichun Xie; Zhihao Xing; Si-Xi Liu; Fei-Qiu Wen; Changgang Li
Journal:  BMC Med Genomics       Date:  2021-03-11       Impact factor: 3.063

3.  Targeted next-generation sequencing identifies a novel nonsense mutation in SPTB for hereditary spherocytosis: A case report of a Korean family.

Authors:  Soyoung Shin; Woori Jang; Myungshin Kim; Yonggoo Kim; Suk Young Park; Joonhong Park; Young Jun Yang
Journal:  Medicine (Baltimore)       Date:  2018-01       Impact factor: 1.889

4.  Neonatal hereditary spherocytosis caused by a de novo frameshift mutation of the SPTB gene characterized by hydrops fetalis: A case report.

Authors:  Yimin Zhang; Shuming Shao; Jie Liu; Chaomei Zeng; Ye Han; Xiaorui Zhang
Journal:  Medicine (Baltimore)       Date:  2021-03-26       Impact factor: 1.817

  4 in total

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