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Transcriptome profiling of monocytes from XLA patients revealed the innate immune function dysregulation due to the BTK gene expression deficiency

X-linked agammaglobulinemia (XLA) is a rare genetic disorder, caused by mutations in BTK (Bruton's Tyrosine Kinase) gene. Deep high-throughput RNA sequencing (RNA-Seq) approach was utilized to explore the possible differences in transcriptome profiles of primary monocytes in XLA patients compar...

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Main Authors: Mirsafian, H., Ripen, A.M., Leong, W.M., Chear, C.T., Mohamad, S.B., Merican, A.F.
Format: Article
Language:English
Published: Nature Publishing Group 2017
Subjects:
Q Science (General)
QH Natural history
Online Access:http://eprints.um.edu.my/18995/1/Transcriptome_profiling_of_monocytes_from_XLA_patients_revealed_the_innate_immune_function_dysregulation_due_to_the_BTK_gene_expression_deficiency.pdf
http://eprints.um.edu.my/18995/
http://dx.doi.org/10.1038/s41598-017-06342-5
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spelling my.um.eprints.189952018-08-08T04:34:15Z http://eprints.um.edu.my/18995/ Transcriptome profiling of monocytes from XLA patients revealed the innate immune function dysregulation due to the BTK gene expression deficiency Mirsafian, H. Ripen, A.M. Leong, W.M. Chear, C.T. Mohamad, S.B. Merican, A.F. Q Science (General) QH Natural history X-linked agammaglobulinemia (XLA) is a rare genetic disorder, caused by mutations in BTK (Bruton's Tyrosine Kinase) gene. Deep high-throughput RNA sequencing (RNA-Seq) approach was utilized to explore the possible differences in transcriptome profiles of primary monocytes in XLA patients compared with healthy subjects. Our analysis revealed the differences in expression of 1,827 protein-coding genes, 95 annotated long non-coding RNAs (lncRNAs) and 20 novel lincRNAs between XLA patients and healthy subjects. GO and KEGG pathway analysis of differentially expressed (DE) protein-coding genes showed downregulation of several innate immune-related genes and upregulation of oxidative phosphorylation and apoptosis-related genes in XLA patients compared to the healthy subjects. Moreover, the functional prediction analysis of DE lncRNAs revealed their potential role in regulating the monocytes cell cycle and apoptosis in XLA patients. Our results suggested that BTK mutations may contribute to the dysregulation of innate immune system and increase susceptibility to apoptosis in monocytes of XLA patients. This study provides significant finding on the regulation of BTK gene in monocytes and the potential for development of innovative biomarkers and therapeutic monitoring strategies to increase the quality of life in XLA patients. Nature Publishing Group 2017 Article PeerReviewed application/pdf en http://eprints.um.edu.my/18995/1/Transcriptome_profiling_of_monocytes_from_XLA_patients_revealed_the_innate_immune_function_dysregulation_due_to_the_BTK_gene_expression_deficiency.pdf Mirsafian, H. and Ripen, A.M. and Leong, W.M. and Chear, C.T. and Mohamad, S.B. and Merican, A.F. (2017) Transcriptome profiling of monocytes from XLA patients revealed the innate immune function dysregulation due to the BTK gene expression deficiency. Scientific Reports, 7 (1). p. 6836. ISSN 2045-2322 http://dx.doi.org/10.1038/s41598-017-06342-5 doi:10.1038/s41598-017-06342-5
institution Universiti Malaya
building UM Library
collection Institutional Repository
continent Asia
country Malaysia
content_provider Universiti Malaya
content_source UM Research Repository
url_provider http://eprints.um.edu.my/
language English
topic Q Science (General)
QH Natural history
spellingShingle Q Science (General)
QH Natural history
Mirsafian, H.
Ripen, A.M.
Leong, W.M.
Chear, C.T.
Mohamad, S.B.
Merican, A.F.
Transcriptome profiling of monocytes from XLA patients revealed the innate immune function dysregulation due to the BTK gene expression deficiency
description X-linked agammaglobulinemia (XLA) is a rare genetic disorder, caused by mutations in BTK (Bruton's Tyrosine Kinase) gene. Deep high-throughput RNA sequencing (RNA-Seq) approach was utilized to explore the possible differences in transcriptome profiles of primary monocytes in XLA patients compared with healthy subjects. Our analysis revealed the differences in expression of 1,827 protein-coding genes, 95 annotated long non-coding RNAs (lncRNAs) and 20 novel lincRNAs between XLA patients and healthy subjects. GO and KEGG pathway analysis of differentially expressed (DE) protein-coding genes showed downregulation of several innate immune-related genes and upregulation of oxidative phosphorylation and apoptosis-related genes in XLA patients compared to the healthy subjects. Moreover, the functional prediction analysis of DE lncRNAs revealed their potential role in regulating the monocytes cell cycle and apoptosis in XLA patients. Our results suggested that BTK mutations may contribute to the dysregulation of innate immune system and increase susceptibility to apoptosis in monocytes of XLA patients. This study provides significant finding on the regulation of BTK gene in monocytes and the potential for development of innovative biomarkers and therapeutic monitoring strategies to increase the quality of life in XLA patients.
format Article
author Mirsafian, H.
Ripen, A.M.
Leong, W.M.
Chear, C.T.
Mohamad, S.B.
Merican, A.F.
author_facet Mirsafian, H.
Ripen, A.M.
Leong, W.M.
Chear, C.T.
Mohamad, S.B.
Merican, A.F.
author_sort Mirsafian, H.
title Transcriptome profiling of monocytes from XLA patients revealed the innate immune function dysregulation due to the BTK gene expression deficiency
title_short Transcriptome profiling of monocytes from XLA patients revealed the innate immune function dysregulation due to the BTK gene expression deficiency
title_full Transcriptome profiling of monocytes from XLA patients revealed the innate immune function dysregulation due to the BTK gene expression deficiency
title_fullStr Transcriptome profiling of monocytes from XLA patients revealed the innate immune function dysregulation due to the BTK gene expression deficiency
title_full_unstemmed Transcriptome profiling of monocytes from XLA patients revealed the innate immune function dysregulation due to the BTK gene expression deficiency
title_sort transcriptome profiling of monocytes from xla patients revealed the innate immune function dysregulation due to the btk gene expression deficiency
publisher Nature Publishing Group
publishDate 2017
url http://eprints.um.edu.my/18995/1/Transcriptome_profiling_of_monocytes_from_XLA_patients_revealed_the_innate_immune_function_dysregulation_due_to_the_BTK_gene_expression_deficiency.pdf
http://eprints.um.edu.my/18995/
http://dx.doi.org/10.1038/s41598-017-06342-5
_version_ 1643690855249215488
score 13.211869

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