<i>ZRSR2</i>mutation in a child with refractory macrocytic anemia and Down Syndrome

Srinath, Meghna; Coberly, Emily; Ebersol, Kimberly; Binz, Kirstin; Laziuk, Katsiaryna; Gunning, William T.; Gruner, Barbara; Hammer, Richard; Sathi, Bindu Kanathezhath

doi:10.1080/08880018.2019.1621969

Cited by 2 publications

(1 citation statement)

References 18 publications

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“…Kromosom klonal kelainan diamati pada 30 hingga 50% pasien dengan MDS dan mutasi gen juga ada. Munculnya generasi berikutnya sekuensing, mutasi somatik berulang pada gen yang terlibat dalam regulasi epigenetik (TET2, ASXL1, EZH2, DNMT3A, IDH1/2), RNA penyambungan (SF3B1, SRSF2, U2AF1, ZRSR2), respons kerusakan DNA (TP53), regulasi transkripsi (RUNX1, BCOR, ETV6), dan transduksi sinyal (CBL, NRAS, JAK2) telah diidentifikasi pada pasien dengan MDS (Srinath et al, 2019). Pasien dengan MDS dapat datang dengan anemia, perdarahan karena trombositopenia, dan infeksi atau demam karena neutropenia.…”

Section: Sindroma Myelodysplasticunclassified

Etiology and Pathogenesis of Macrocytic Anemia

Gede Andhika

2023

JBT

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Anemia is the most common conditions detected by primary care doctors in Indonesia and worldwide. In 2010, the global prevalence of anemia was 32.9%; that is, more than 2.2 billion people have anemia in the world. Macrocytic anemia refers to a condition that refers to macrocytosis, or when the mean corpuscular volume (MCV) is greater than 100 fL in moderate anemia, the hemoglobin is less than 12 g/dL, or the hematocrit is less than 36%. To identify the etiology and course of the disease in macrocytic anemia. This writing uses the method of studying the relevant literature related to the etiology and course of the disease, macrocytic anemia. The search engines used in this paper include Pubmed, Google Scholar, Research Gate, NCBI, and BMC. This article uses 22 articles that were used as references in its preparation. Megaloblastic anemia has etiologies in the form of vitamin B12 and folate deficiency, while non-megaloblastic anemia has etiologies such as alcohol consumption, MDS, hyperthyroidism, etc. The disease course of the two types of macrocytic anemia also differs based on the type, namely megaloblastic and non-megaloblastic. In general, macrocytic anemia is divided into megaloblastic anemia and non-megaloblastic anemia; these divisions have different etiologies dan pathogenesis.

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Section: Sindroma Myelodysplasticunclassified

Etiology and Pathogenesis of Macrocytic Anemia

Gede Andhika

2023

JBT

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Zrsr2 Is Essential for the Embryonic Development and Splicing of Minor Introns in RNA and Protein Processing Genes in Zebrafish

Weinstein

Bishop

Broadbridge

et al. 2022

IJMS

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ZRSR2 (zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2) is an essential splicing factor involved in 3′ splice-site recognition as a component of both the major and minor spliceosomes that mediate the splicing of U2-type (major) and U12-type (minor) introns, respectively. Studies of ZRSR2-depleted cell lines and ZRSR2-mutated patient samples revealed its essential role in the U12-dependent minor spliceosome. However, the role of ZRSR2 during embryonic development is not clear, as its function is compensated for by Zrsr1 in mice. Here, we utilized the zebrafish model to investigate the role of zrsr2 during embryonic development. Using CRISPR/Cas9 technology, we generated a zrsr2-knockout zebrafish line, termed zrsr2hg129/hg129 (p.Trp167Argfs*9) and examined embryo development in the homozygous mutant embryos. zrsr2hg129/hg129 embryos displayed multiple developmental defects starting at 4 days post fertilization (dpf) and died after 8 dpf, suggesting that proper Zrsr2 function is required during embryonic development. The global transcriptome analysis of 3 dpf zrsr2hg129/hg129 embryos revealed that the loss of Zrsr2 results in the downregulation of essential metabolic pathways and the aberrant retention of minor introns in about one-third of all minor intron-containing genes in zebrafish. Overall, our study has demonstrated that the role of Zrsr2 as a component of the minor spliceosome is conserved and critical for proper embryonic development in zebrafish.

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ZRSR2mutation in a child with refractory macrocytic anemia and Down Syndrome

Cited by 2 publications

References 18 publications

Etiology and Pathogenesis of Macrocytic Anemia

Etiology and Pathogenesis of Macrocytic Anemia

Zrsr2 Is Essential for the Embryonic Development and Splicing of Minor Introns in RNA and Protein Processing Genes in Zebrafish

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