The X chromosome and immune associated genes

Bianchi, Ilaria; Lleo, Ana; Gershwin, M. Eric; Invernizzi, Pietro

doi:10.1016/j.jaut.2011.11.012

Cited by 301 publications

(238 citation statements)

References 97 publications

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“…Proliferative disorders of the hematopoetic system have been associated with deletion or suppression of factors linked with XCI (Leong et al 2013;Yildirim et al 2013), and abnormalities of XCI are reported frequently in cancers, including duplication of the active X (Xa) in breast and ovarian cancers and leukemias (Spatz et al 2004;Lee and Bartolomei 2013). However, X chromosomes carry proportionally more immune-related genes than the rest of the genome (Bianchi et al 2012), which means that a more general failure of the control of gene expression might manifest preferentially in females. Transcriptome analysis in PEFs identified candidate X-linked drivers of hematopoetic malignancies; Gpm6b overexpression is linked with B-cell lymphoma (Charfi et al 2014), and Figf (VEGF-D) is implicated in the metastatic spread of tumors via lymph nodes (Bardelli et al 2007;Pazgal et al 2007).…”

Section: Discussionmentioning

confidence: 99%

The nuclear matrix protein CIZ1 facilitates localization of Xist RNA to the inactive X-chromosome territory

et al. 2017

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The nuclear matrix protein Cip1-interacting zinc finger protein 1 (CIZ1) promotes DNA replication in association with cyclins and has been linked to adult and pediatric cancers. Here we show that CIZ1 is highly enriched on the inactive X chromosome (Xi) in mouse and human female cells and is retained by interaction with the RNA-dependent nuclear matrix. CIZ1 is recruited to Xi in response to expression of X inactive-specific transcript (Xist) RNA during the earliest stages of X inactivation in embryonic stem cells and is dependent on the C-terminal nuclear matrix anchor domain of CIZ1 and the E repeats of Xist. CIZ1-null mice, although viable, display fully penetrant female-specific lymphoproliferative disorder. Interestingly, in mouse embryonic fibroblast cells derived from CIZ1-null embryos, Xist RNA localization is disrupted, being highly dispersed through the nucleoplasm rather than focal. Focal localization is reinstated following re-expression of CIZ1. Focal localization of Xist RNA is also disrupted in activated B and T cells isolated from CIZ1-null animals, suggesting a possible explanation for female-specific lymphoproliferative disorder. Together, these findings suggest that CIZ1 has an essential role in anchoring Xist to the nuclear matrix in specific somatic lineages.

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Section: Discussionmentioning

confidence: 99%

The nuclear matrix protein CIZ1 facilitates localization of Xist RNA to the inactive X-chromosome territory

et al. 2017

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“…In fact, these 'modified' genes seem to play crucial roles in selected immune-related medical illnesses [6,72].…”

Section: Fmr1 Gene Mutations and Reproductive Agingmentioning

confidence: 99%

The impact of FMR1 gene mutations on human reproduction and development: a systematic review

Noto

Harrity

Walsh

et al. 2016

J Assist Reprod Genet

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Purpose This is a comprehensive review of the literature in this field attempting to put the FMR1 gene and its evaluation into context, both in general and for the reproductive health audience. Methods Online database search of publications with systematic review of all papers relevant to ovarian reserve and assisted reproduction was done. Results Relevant papers were identified and assessed, and an attempt was made to understand, rationalize and explain the divergent views in this field of study. Seminal and original illustrations were employed. Conclusions FMR1 is a highly conserved gene whose interpretation and effect on outcomes remains controversial in the reproductive health setting. Recent re-evaluations of the commonly accepted normal range have yielded interesting tools for possibly explaining unexpected outcomes in assisted reproduction. Fragile X investigations should perhaps become more routinely assessed in the reproductive health setting, particularly following a failed treatment cycle where oocyte quality is thought to be a contributing factor, or in the presence of a surprise finding of diminished ovarian reserve in a young patient.

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“…The X chromosome is also highly enriched in immune-related genes 61 and there are several X-linked microRNAs that may contribute to sex-specific regulation of the immune response by targeting immune-related genes 70,71 . In one study of an autoimmune disease, Systemic lupus erythematosus (SLE), several X-linked miRNAs were found overexpressed in T cells of female versus male patients 72 .…”

Section: Introduction (Epidemiology)mentioning

confidence: 99%

Sexual dimorphism in cancer

et al. 2016

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The incidence of many cancer types is significantly higher in the male than female populations, with associated differences in survival. Occupational and/or behavioral factors are well known underlying determinants. However, cellular/molecular differences between the two sexes are also likely to be important. We are focusing here on the complex interplay that sexual hormones and sex chromosomes can have in intrinsic control of cancer initiating cell populations, tumor microenvironment and systemic determinants of cancer development like the immune system and metabolism. A better appreciation of these differences between the two sexes could be of substantial value for cancer prevention as well as treatment.3 Introduction (Epidemiology)

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The X chromosome and immune associated genes

Cited by 301 publications

References 97 publications

The nuclear matrix protein CIZ1 facilitates localization of Xist RNA to the inactive X-chromosome territory

The nuclear matrix protein CIZ1 facilitates localization of Xist RNA to the inactive X-chromosome territory

The impact of FMR1 gene mutations on human reproduction and development: a systematic review

Sexual dimorphism in cancer

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