Study of SH2D1A gene mutation in paediatric patients with B-cell lymphoma

Koochakzadeh, Leili; Hosseinverdi, Sima; Hedayat, Mona; Farahani, Fatemeh; Tofighi, Alireza; Eghbali, Mohammad; Bidoki, Alireza Zare; Izadyar, Mina; Rahiminejad, Mohammad Saeid; Ramyar, Asghar; Aghamohammadi, Asghar; Rezaei, Nima

doi:10.1016/j.aller.2015.01.007

Cited by 8 publications

(1 citation statement)

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“…Polymorphisms at the tumor necrosis factor (TNF) superfamily member 15 locus, which encodes the TNF superfamily cytokine commonly known as tumor necrosis factor-like ligand 1A, are associated with susceptibility to inflammatory bowel disease in a range of people [44]. A SH2 domain containing 1A gene mutation in pediatric patients can regulate B-cell lymphoma [45]. The PAF1 homolog, Paf1/RNA polymerase II complex component gene can regulate RNA polymerase II (Pol2) movement through chromatin and the co-transcriptional processing and fate of nascent transcripts [46].…”

Section: Discussionmentioning

confidence: 99%

Genomic analysis reveals selection signatures of the Wannan Black pig during domestication and breeding

Zhang

Yang

Wang

et al. 2020

Asian-Australas J Anim Sci

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Objective: The Wannan Black pig is a typical Chinese indigenous, disease-resistant pig breed with high fertility, and a crude-feed tolerance that has been bred by artificial selection in the south of Anhui province for a long time. However, genome variation, genetic relationships with other pig breeds, and domestication, remain poorly understood. Here, we focus on elucidating the genetic characteristics of the Wannan Black pig and identifying selection signatures during domestication and breeding.Methods: We identified the whole-genome variation in the Wannan Black pig and performed population admixture analyses to determine genetic relationships with other domesticated pig breeds and wild boars. Then, we identified the selection signatures between the Wannan Black pig and Asian wild boars in 100-kb windows sliding in 10 kb steps by using two approaches: the fixation index (FST) and π ratios.Results: Resequencing the Wannan Black pig genome yielded 501.52 G of raw data. After calling single-nucleotide variants (SNVs) and insertions/deletions (InDels), we identified 21,316,754 SNVs and 5,067,206 InDels (2,898,582 inserts and 2,168,624 deletions). Additionally, we found genes associated with growth, immunity, and digestive functions.Conclusion: Our findings help in explaining the unique genetic and phenotypic characteristics of Wannan Black pigs, which in turn can be informative for future breeding programs of Wannan Black pigs.

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Section: Discussionmentioning

confidence: 99%

Genomic analysis reveals selection signatures of the Wannan Black pig during domestication and breeding

Zhang

Yang

Wang

et al. 2020

Asian-Australas J Anim Sci

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Genetic Predisposition to Non-Hodgkin Lymphoma

Haas

2019

Non-Hodgkin's Lymphoma in Childhood and Adolescence

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Epidemiology and pathophysiology of malignancy in common variable immunodeficiency?

Manesh

Azizi

Heydari

et al. 2017

Allergologia et Immunopathologia

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Common variable immunodeficiency (CVID) is a diagnostic category of primary immunodeficiency (PID) which may present with heterogeneous disorders including recurrent infections, autoimmunity, granulomatous diseases, lymphoid and other types of malignancies. Generally, the incidence of malignancy in CVID patients is around 1.5-20.7% and usually occurs during the 4th-6th decade of life. Non-Hodgkin lymphoma is the most frequent malignancy, followed by epithelial tumours of stomach, breast, bladder and cervix. The exact pathological mechanisms for cancer development in CVID are not fully determined; however, several mechanisms including impaired genetic stability, genetic predisposition, immune dysregulation, impaired clearance of oncogenic viruses and bacterial infections, and iatrogenic causes have been proposed to contribute to the high susceptibility of these patients to malignancies.

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Study of SH2D1A gene mutation in paediatric patients with B-cell lymphoma

Abstract: This is the first study to analyse the SH2D1A gene mutations in Iranian paediatric patients diagnosed with lymphoma. Although we could not demonstrate such an association in our cohort of patients, larger, multi-centre studies are required to extend and confirm our early findings.

Cited by 8 publications

References 8 publications

Genomic analysis reveals selection signatures of the Wannan Black pig during domestication and breeding

Genomic analysis reveals selection signatures of the Wannan Black pig during domestication and breeding

Genetic Predisposition to Non-Hodgkin Lymphoma

Epidemiology and pathophysiology of malignancy in common variable immunodeficiency?

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