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遗传学报：英文版

遗传学报：英文版

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  • 国内刊号/CN：11-5450/R
    国际刊号/ISSN：1673-8527
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  • 主管单位：中国科学院遗传与发育生物学研究所;中国遗传学会
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遗传学报：英文版 >2023年第1期

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  • 摘要：The primary cilium,an important microtubule-based organelle,protrudes from nearly all the vertebrate cells.The motility of cilia is necessary for various developmental and physiological processes.Phosphoinositides(PIs)and its metabolite,Ptd Ins(4,5)P2,have been revealed to contribute to cilia assembly and disassembly.As an important kinase of the PI pathway and signaling,phosphatidylinositol 4-kinaseβ(PI4 KB)is the one of the most extensively studied phosphatidylinositol 4-kinase isoform.However,its potential roles in organ development remain to be characterized.To investigate the developmental role of Pi4 kb,especially its function on zebrafish ciliogenesis,we generated pi4 kb deletion mutants using clustered regularly interspaced short palindromic repeats(CRISPR)/CRISPR-associated protein 9 technique.The homozygous pi4 kb mutants exhibit an absence of primary cilia in the inner ear,neuromasts,and pronephric ducts accompanied by severe edema in the eyes and other organs.Moreover,smaller otic vesicle,malformed semicircular canals,and the insensitivity on sound stimulation were characteristics of pi4 kb mutants.At the protein level,both in vivo and in vitro analyses revealed that synthesis of Pi4 p was greatly reduced owing to the loss of Pi4 kb.In addition,the expression of the Pi4 kb-binding partner of neuronal calcium sensor-1,as well as the phosphorylation of phosphatidylinositol-4-phosphate downstream effecter of Akt,was significantly inhibited in pi4 kb mutants.Taken together,our work uncovers a novel role of Pi4 kb in zebrafish inner ear development and the functional formation of hearing ability by determining hair cell ciliogenesis.
  • 摘要：The clustered regularly interspaced short palindromic repeats(CRISPR)/CRISPR-associated protein 9(Cas9) system provides a technological breakthrough in mutant generation. Several methods such as the polymerase chain reaction(PCR)/restriction enzyme(RE) assay, T7 endonuclease I(T7EI) assay, Surveyor nuclease assay, PAGE-based genotyping assay, and high-resolution melting(HRM) analysis-based assay have been developed for screening CRISPR/Cas9-induced mutants. However, these methods are timeand labour-intensive and may also be sequence-limited or require very expensive equipment. Here, we described a cost-effective and sensitive screening technique based on conventional PCR, annealing at critical temperature PCR(ACT-PCR), for identifying mutants. ACT-PCR requires only a single PCR step followed by agarose gel electrophoresis. We demonstrated that ACT-PCR accurately distinguished CRISPR/Cas9-induced mutants from wild type in both rice and zebrafish. Moreover, the method can be adapted for accurately determining mutation frequency in cultured cells. The simplicity of ACT-PCR makes it particularly suitable for rapid, large-scale screening of CRISPR/Cas9-induced mutants in both plants and animals.
  • 摘要：Poor quality embryos discarded from in vitro fertilization (IVF) laboratories are good sources for deriving human embryonic stem cell (hESC) lines. In this study, 166 poor quality embryos donated from IVF centers on day 3 were cultured in a blastocyst medium for 2 days, and 32 early blastocysts were further cultured in a blastocyst optimum culture medium for additional 2 days so that the inner cell masses (ICMs) could be identified and isolated easily. The ICMs of 17 blastocysts were isolated by a mechanical method, while those of the other 15 blastocysts were isolated by immunosurgery. All isolated ICMs were inoculated onto a feeder layer for subcultivation. The rates of ICM at- tachment, primary ICM colony formation and the efficiency of hESC derivation were similar between the ICMs isolated by the two methods (P>0.05). As a result, four new hESC lines were established. Three cell lines had normal karyotypes and one had an unbalanced Robertsonian translocation. All cell lines showed normal hESC characteristics and had the differentiation ability. In conclusion, we established a stable and effective method for hESC isolation and culture, and it was confirmed that the mechanical isolation was an effective method to isolate ICMs from poor embryos. These results further indicate that hESC lines can be derived from poor quality embryos discarded by IVF laboratories.
  • 摘要：The Metronidazole(MTZ)/nitroreductase(NTR)-mediated cell ablation system is the most commonly used chemical-genetic cell ablation method in zebrafish. This system can specifically ablate target cells under spatial and temporal control. The MTZ/NTR system has become a widely used cell ablation system in biological, developmental, and functional studies. However, the inadequate cell-ablation ability of some cell types and the side effects of high concentration MTZ impede extensive applications of the MTZ/NTR system. In the present study, the US drug collection library was searched to extend the NTR system. Six MTZ analogs were found, and the cell-ablation ability of these analogs was tested in zebrafish larvae. The results revealed that two of the NTR substrates, Furazolidone and Ronidazole, ablated target cells more efficiently than MTZ at lower concentrations. Furthermore, the working concentration of Ronidazole, but not Furazolidone and MTZ, did not affect axonal bridge formation during spinal cord regeneration. Our results,taken together, indicate that Ronidazole is a superior prodrug to MTZ for the NTR system, especially for the study of neuron regeneration in zebrafish larvae.
  • 摘要：The associations of polymorphic Alu insertions (POALINs) with major histocompatibility complex (MHC) class I genes enable us to better identify origins and evolution of MHC class I region haplotypes in different populations. For further studying origins and evolution of MHC class I region haplotypes in Han and Jinuo populations in Yunnan Province, we investigated frequencies of five POALINs, their associations with HLA-A and -B, the three-loci POALINs haplotype frequencies and HLA/POALIN four-loci haplotype frequencies within the alpha block of MHC class I region. We found that a strong positive association between AluHG and HLA-A*02 is in Jinuo, but not in Yunnan Han. These results suggest that MHC class I region haplotypes of the two studied populations might derive from different progenitor haplotypes and MHC I-POALINs are informative genetic markers for investigating origins and evolution of MHC class I region haplotypes in different populations.
  • 摘要：The H7 subtype avian influenza viruses,including H7N2,H7N3 and H7N7,have posed a public health threat worldwide.Except one H7N7 fatal case in the Netherlands in 2003,the other H7 human cases have resulted in self-limiting conjunctivitis or mild upper respiratory illness.
  • 摘要：Hypoxia represents one of the most extreme environmental conditions for both human beings and animals living at high altitudes(Zhao et al.,2009).Over the past few years,great attention has been focused on the genetic bases of adaption to high-altitude environments(Bigham et al.,2010;Simonson et al.,2010).The domestic dog(Canis familiaris)is the first animal that
  • 摘要：MicroRNAs(miRNAs) are a class of about 20—24 nt small non-coding RNAs that can regulate their target gene expression transcriptionally and posttranscriptionally.There are an increasing number of studies describing the identification of new components and regulatory mechanisms involved in the miRNA biogenesis and effector pathway as well as new functions of miRNAs in plant development. This review mainly focuses on the components involved in this pathway,and the developmental defects associated with the corresponding mutations.Some functions of important miRNAs in plant development,together with the modes of miRNA action,are also discussed in this review to describe the recent advance in this area.
  • 摘要：Gut dysbiosis is suggested to play a critical role in the pathogenesis of gout.The aim of our study was to identify the characteristic dysbiosis of the gut microbiota in gout patients and the impact of a commonly used uric acid-lowering treatment,febuxostat on gut microbiota in gout.16S ribosomal RNA sequencing and metagenomic shotgun sequencing was performed on fecal DNA isolated from 38 untreated gout patients,38 gout patients treated with febuxostat,and 26 healthy controls.A restriction of gut microbiota biodiversity was detected in the untreated gout patients,and the alteration was partly restored by febuxostat.Biochemical metabolic indexes involved in liver and kidney metabolism were significantly associated with the gut microbiota composition in gout patients.Functional analysis revealed that the gut microbiome of gout patients had an enriched function on carbohydrate metabolism but a lower potential for purine metabolism,which was comparatively enhanced in the febuxostat treated gout patients.A classification microbial model obtained a high mean area under the curve up to 0.973.Therefore,gut dysbiosis characterizings gout could potentially serve as a noninvasive diagnostic tool for gout and may be a promising target of future preventive interventions.
  • 摘要：Telomeres are proteineDNA complex structure at the ends of chromosomes,which are involved in genomic stability(Blackburn,2010).In most human cells,telomere erosion with each round of cell division eventually limits cell proliferation and tissue renewal,thereby impacting age-dependent pathologies(Lundblad,2012).Leukocyte telomere length(LTL)
  • 摘要：潜在地功能的多型性， SNP309，在 MDM2 的倡导者区域，基因在出版研究看了不确定的结果的癌症风险，而是个人被含有。获得在 MDM2 SNP309 和癌症的风险之间的协会的更精确的估计，我们在与肿瘤和 33,046 控制的不同类型包括了 26,160 个盒子的 59 份出版物执行了 70 单个研究的元分析。概括机会比率(或) 并且相应当适当时， 95% 信心间隔(CI ) 用改正效果和随机效果的模型被估计。总的来说，变体遗传型在不同基因模型为所有癌症类型与显著地增加的癌症风险被联系(GG 对 TT：或， 1.123；95% CI， 1.0561.193；GG/GT 对 TT：或， 1.028；95% CI， 1.0061.050 ) 。在成层的分析，为大多数的研究仍然是的增加的风险癌症，亚洲人口，和医院打字 -- 在不同基因模型的 /population-based 研究，而显著地减少了，风险在前列腺癌症被发现(GG 对 TT：或， 0.606；95% CI， 0.4070.903；GG/GT 对 TT：或， 0.748；95% CI， 0.5790.968 ) 。在结论，元分析的数据建议 MDM2 SNP309 是为癌症风险的潜在的 biomarker。
  • 摘要：Palm oil is currently the leading edible oil consumed worldwide. Triacylglycerol(TAG) and diacylglycerol(DAG) are the dominant lipid classes in palm oil. Other lipid classes present in crude palm oil, such as phospholipids and galactolipids, are very low in abundance.These low-abundance lipids constitute key intermediates in lipid biosynthesis. In this study, we applied multiple lipidomic approaches,including high-sensitivity and high-specificity multiple reaction monitoring, to comprehensively quantify individual lipid species in crude palm oil. We also established a new liquid chromatography-coupled mass spectrometry method that allows direct quantification of low-abundance galactolipids in palm oil without the need for sample pretreatment. As crude palm oil contains large amounts of neutral lipids, our direct-detection method circumvents many of the challenges encountered with conventional lipid quantification methods. This approach allows direct measurement of lipids with no hassle during sample preparation and is more accurate and precise compared with other methods.
  • 摘要：CRISPR/Cas9-mediated genome engineering technologies are now widely applied in various organisms,including mouse and human cells(Cong et al.,2013;Mali et al.,2013;Yang et al.,2013;Hsu et al.,2014).The most widely used customized CRISPR/Cas9(Sp Cas9)is derived from Streptococcus pyogenes(Cong et al.,2013).The CRISPR/Cas9 system creates site-specific double-
  • 摘要：Boron (B) toxicity to plants is responsible for low crop productivity in many regions of the world. Here we report a novel and effective means to alleviate the B toxicity to plants under high B circumstance. Functional characterization of AtTIP5;1, an aquaporin gene, re-vealed that overexpression of AtTIP5;1 (OxAtTIP5;1) in Arabidopsis significantly increased its tolerance to high B toxicity. Compared to wild-type plants, OxAtTIP5;1 plants exhibited longer hypocotyls, accelerated development, increased silique production under high B treatments. GUS staining and quantitative RT-PCR (qRT-PCR) results demonstrated that the expression of AtTIP5;1 was induced by high B concentration treatment. Subcellular localization analysis revealed that the AtTIP5;1-GFP fusion protein was localized on the tonoplast membrane, which was consistent with the prediction based on bioinformatics. Taken together, our results suggest that AtTIP5;1 is in-volved in B transport pathway possibly via vacuolar compartmentation for B, and that overexpression of AtTIP5;1 in plants may provide an effective way to overcome the problem resulting from high B concentration toxicity.
  • 摘要：A nucleosome contains two copies of each histone H2A,H2B,H3 and H4.Histone H3 K4me0 and K36me3are two key chromatin marks for de novo DNA methylation catalyzed by DNA methyltransferases in mammals.However,it remains unclear whether K4me0 and K36me3 marks on both sister histone H3s regulate de novo DNA methylation independently or cooperatively.Here,taking advantage of the bivalent histone H3 system in yeast,we examined the contributions of K4 and K36 on sister histone H3s to genomic DNA methylation catalyzed by ectopically co-expressed murine Dnmt3a and Dnmt3L.The results show that lack of both K4me0 and K36me3 on one sister H3 tail,or lack of K4me0 and K36me3 on respective sister H3s results in a dramatic reduction of 5mC,revealing a synergy of two sister H3s in DNA methylation regulation.Accordingly,the Dnmt3a or Dnmt3L mutation that disrupts the interaction of Dnmt3aADD domain-H3K4me0,Dnmt3LADD domain-H3K4me0,orDnmt3aPWWP domain-H3K36me3 causes a significant reduction of DNA methylation.These results support the model that each heterodimeric Dnmt3a-Dnmt3L reads both K4me0 and K36me3 marks on one tail of sister H3s,and the dimer of heterodimeric Dnmt3a-Dnmt3L recognizes two tails of sister histone H3s to efficiently execute de novo DNA methylation.
  • 摘要：In the Drosophila larval brain, type I and type Ⅱ neuroblasts(NBs) undergo a series of asymmetric divisions which give rise to distinct progeny lineages. The intermediate neural progenitors(INPs) exist only in type Ⅱ NB lineages. In this study, we reveal a novel function of Inscuteable(Insc) that acts to maintain type I NB lineage identity. In insc type I NB clones of mosaic analyses with a repressible cell marker(MARCM), the formation of extra Deadpan(Dpn)tNB-like and GMC-like cells is observed. The lack of Insc leads to the defective localization and segregation of Numb during asymmetric cell division. By the end of cytokinesis, this results in insufficient Numb in ganglion mother cells(GMCs). The formation of extra Deadpan(Dpn)tcells in insc clones is prevented by the attenuation of Notch activity. This suggests that Insc functions through the Numb/Notch signaling pathway. We also show that in the absence of Insc in type I NB lineages, the cellular identity of GMCs is altered where they adopt an INP-like cell fate as indicated by the initiation of Dpn expression accompanied by a transient presence of Earmuff(Erm).These INP-like cells have the capacity to divide multiple times. We conclude that Insc is necessary for the maintenance of type I NB lineage identity. Genetic manipulations to eliminate most type I NBs with overproliferating type Ⅱ NBs in the larval brain lead to altered circadian rhythms and defective phototaxis in adult flies. This indicates that the homeogenesis of NB lineages is important for the adult's brain function.
  • 摘要：Domestication of livestock involves drastic phenotypic changes driven by strong artificial selection,such as tame behavior and coat color.These abundant phenotypic variations established during animal domestication have provided valuable resources to study the evolutionary mechanisms underlying domestication.
  • 摘要：Northern Eurasia (nEA) has been considered crucial for the dispersal of the anatomically modern human (AMH) in recent studies.After the Last Glacial Maximum (LGM),ancient populations from different locations were redistributed throughout the region (Sikora et al.,2019;Yu et al.,2020;Kílínc et al.,2021;Mao et al.,2021).It is suggested that the emergence of many diverse ethnolinguistic groups.
  • 摘要：Lipid droplets(LDs) were once viewed as simple, inert lipid micelles. However, they are now known to be organelles with a rich proteome involved in a myriad of cellular processes. LDs are heterogeneous in nature with different sizes and compositions of phospholipids, neutral lipids and proteins. This review takes a focused look at the roles of proteins involved in the regulation of LD formation,expansion, and morphology. The related proteins are summarized such as the fat-specific protein(Fsp27), fat storage-inducing transmembrane(FIT) proteins, seipin and ADP-ribosylation factor 1-coat protein complex I(Arf-COPI). Finally, we present important challenges in LD biology for a deeper understanding of this dynamic organelle to be achieved.
  • 摘要：Development of the secondary palate displays molecular heterogeneity along the anterior-posterior axis;however, the underlying molecular mechanism remains largely unknown. MSX1 is an anteriorly expressed transcription repressor required for palate development. Here, we investigate the role of Msx1 in regional patterning of the secondary palate. The Wnt1-Cre-mediated expression of Msx1(Rosa Msx1^(Wnt1-Cre))throughout the palatal mesenchyme leads to cleft palate in mice, associated with aberrant cell proliferation and cell death. Osteogenic patterning of the hard palate in Rosa Msx1^(Wnt1-Cre)mice is severely impaired, as revealed by a marked reduction in palatine bone formation and decreased expression of the osteogenic regulator Sp7. Overexpression and knockout of Msx1 in mice show that the transcription repressor promotes the expression of the anterior palate-specific Alx1 but represses the expression of the medialposterior palate genes Barx1, Meox2, and Tbx22. Furthermore, Tbx22 constitutes a direct Msx1 target gene in the secondary palate, suggesting that Msx1 can directly repress the expression of medial-posterior specific genes. Finally, we determine that Sp7 is downstream of Tbx22 in palatal mesenchymal cells,suggesting that a Msx1/Tbx22/Sp7 axis participates in the regulation of palate development. Our findings unveil a novel role for Msx1 in regulating the anterior-posterior growth and patterning of the secondary palate.
  • 摘要：Breakthroughs in the generation of programmable sequencespecific nucleases (SSNs),such as zinc finger nucleases (ZFNs), TAL effector nucleases (TALENs)and the RNA-directed nuclease CRISPR-associated protein 9 (Cas9),have greatly increased the ease of plant genome engineering (Voytas,2013;Malzahn et al., 2017).Programmable SSNs introduce a DNA double-strand break (DSB)at a target site in the genome that must be repaired by one of several endogenous DNA repair pathways.
  • 摘要：CRISPR-mediated genome editing is a revolutionary technology for genome manipulation that uses the CRISPR-Cas systems and base editors.Currently,poor efficiency and off-target problems have impeded the application of CRISPR systems.The on-target efficiency has been improved in several advanced versions of CRISPR systems,whereas the off-target detection still remains a key challenge.Here,we outline the different versions of CRISPR systems and off-target detection strategies,discuss the merits and limitations of off-target detection methods,and provide potential implications for further gene editing research.
  • 摘要：Filamin B(FLNB)is a large dimeric actin-binding protein which crosslinks actin cytoskeleton filaments into a dynamic structure.Up to present,pathogenic mutations in FLNB are solely found to cause skeleta deformities,indicating the important role of FLNB in skeletal development.FLNB-related disorders are classifiedasspondylocarpotarsalsynostosis(SCT),Larsensyndrome(LS),atelosteogenesis(AO)boomerang dysplasia(BD),and isolated congenital talipes equinovarus,presenting with scoliosis,shortlimbed dwarfism,clubfoot,joint dislocation and other unique skeletal abnormalities.Several mecha?nisms of FLNB mutations causing skeletal malformations have been proposed,including delay of ossification in long bone growth plate,reduction of bone mineral density(BMD),dysregulation of muscle differentiation,ossification of intervertebral disc(IVD),disturbance of proliferation,differentiation and apoptosis in chondrocytes,impairment of angiogenesis,and hypomotility of osteoblast,chondrocyte and fibroblast.Interventions on FLNB-related diseases require prenatal surveillance by sonography,gene testing in high-risk carriers,andproper orthosis or orthopedic surgeries to correct malformations including scoliosis,cervical spine instability,large joint dislocation,and clubfoot.Gene and cell therapies for FLNB-related diseases are also promising but require further studies.
  • 摘要：Compartmentation is essential for the localization of biological processes within a eukaryotic cell.ATP synthase localizes to organelles such as mitochondria and chloroplasts.By contrast,little is known about the subcellular distribution of CTP synthase,the critical enzyme in the production of CTP,a high-energy molecule similar to ATP.Here I describe the identification of a novel intracellular structure con-taining CTP synthase,termed the cytoophidium,in Drosophila cells.I find that cytoophidia are present in all major cell types in the ovary and exist in a wide range of tissues such as brain,gut,trachea,testis,accessory gland,salivary gland and lymph gland.In addition,I find CTP synthase-containing cytoophidia in other fruit fly species.The observation of compartmentation of CTP synthase now permits a broad range of questions to be addressed concerning not only the structure and function of cytoophidia but also the organization and regulation of CTP synthesis.
  • 摘要：Cyclin-dependent kinase 1 (CDK1) plays an essential role in cell cycle regulation.However,as mouse Cdk1embryos die early,the role of CDK1 in regulating the cell cycle and embryo development remains unclear.Here,we showed that zebrafish cdk1^(-/-)embryos exhibit severe microphthalmia accompanied by multiple defects in S phase entry,M phase progression,and cell differentiation but not in interkinetic nuclear migration.We identified Top2a as a potential downstream target and cyclin A2 and cyclin B1 as partners of Cdk1 in cell cycle regulation via an in silico analysis.While depletion of either cyclin A2 or Top2a led to the decreased S phase entry in zebrafish retinal cells,the depletion of cyclin B1 led to M phase arrest.Moreover,phosphorylation of Top2a at serine 1213 (S1213) was nearly abolished in both cdk1 and ccna2mutants,but not in ccnb1 mutants.Furthermore,overexpression of TOP2A^(S1213D),the phosphomimetic form of human TOP2A,rescued S phase entry and alleviated the microphthalmia defects in both cdk1^(-/-)and ccna2^(-/-)embryos.Taken together,our data suggest that Cdk1 interacts with cyclin A2 to regulate S phase entry partially through Top2a phosphorylation and interacts with cyclin B1 to regulate M phase progression.
  • 摘要：Reprogramming of somatic cells to induced pluripotent stem cells(iPSCs) is a comprehensive epigenetic process involving genome-wide modifications of histones and DNA methylation. This process is often incomplete, which subsequently affects i PSC reprograming,pluripotency, and differentiation capacity. Here, we review the epigenetic changes with a focus on histone modification(methylation and acetylation) and DNA modification(methylation) during i PSC induction. We look at changes in specific epigenetic signatures, aberrations and epigenetic memory during reprogramming and small molecules influencing the epigenetic reprogramming of somatic cells. Finally,we discuss how to improve i PSC generation and pluripotency through epigenetic manipulations.
  • 摘要：Site-directed RNA editing(SDRE)is invaluable to basic research and clinical applications and has emerged as a new frontier in genome editing.The past few years have witnessed a surge of interest in SDRE,with SDRE tools emerging at a breathtaking pace.However,off-target effects of SDRE remain a tough problem,which constitutes a major hurdle to their clinical applications.Here we discuss the diverse strategies for combating off-target editing,drawing lessons from the published studies as well as our ongoing research.Overall,SDRE is still at its infancy,with significant challenges and exciting opportunities ahead.
  • 摘要：Conventional coalescent inferences of population history make the critical assumption that the population under examination is panmictic.However,most populations are structured.This complicates the prevailing coalescent analyses and sometimes leads to inaccurate estimates.To develop a coalescent method unhampered by population structure,we perform two analyses.First,we demonstrate that the coalescent probability of two randomly sampled alleles from the immediate preceding generation(one generation back)is independent of population structure.Second,motivated by this finding,we propose a new coalescent method:i-coalescent analysis.The i-coalescent analysis computes the instantaneous coalescent rate by using a phylogenetic tree of sampled alleles.Using simulated data,we broadly demonstrate the capability of i-coalescent analysis to accurately reconstruct population size dynamics of highly structured populations,although we find this method often requires larger sample sizes for structured populations than for panmictic populations.Overall,our results indicate i-coalescent analysis to be a useful tool,especially for the inference of population histories with intractable structure such as the developmental history of cell populations in the organs of complex organisms.
  • 摘要：玉米(Zea mays L.) 是商业地重要的庄稼。它的收益能被变化在引起死亡的 biosynthetic 和 degradative 小径减少。在这份报纸，我们描述坏死的叶(nec-t ) 异种，从一根生来的线被获得， 81647。nec-t 异种植物与坏死的点有黄叶子，减少了叶绿素内容，并且变白的幼苗在正常生长条件下面死了。传播电子显微镜学揭示了散布 thylakoids，并且每房间减少了 grana lamellae 和叶绿体的数字。组织化学的染色建议 nec-t 叶子的那点形成可能由于房间死亡。基因分析证明那坏死被一个后退的地点的变化引起。用简单顺序重复标记， Nec-t 基因在染色体 2 的短手臂上在 mmc0111 和 bnlg2277 之间被印射。有从一张 F2 人口的变异的显型的 1287 个个人的一个总数被用于物理印射。Nec-t 基因在标记 T31 和 H8 之间位于 131.7 kb 的一个物理区域以内。
  • 摘要：Shwachman-Diamond syndrome(SDS) is a multi-system disorder characterized by bone marrow failure, pancreatic insufficiency,skeletal abnormalities, and increased risk of leukemic transformation. Most patients with SDS contain mutations in the ShwachmanBodian-Diamond syndrome gene(SBDS), encoding a highly conserved protein that has been implicated in ribosome biogenesis.Emerging evidence also suggests a distinct role of SBDS beyond protein translation. Using the yeast model of SDS, we examined the underlying mechanisms that cause cells lacking Sdo1 p, the yeast SBDS ortholog, to exhibit reduced tolerance to various stress conditions.Our analysis indicates that the environmental stress response(ESR), heat shock response(HSR), and endoplasmic reticulum unfolded protein response(UPR) of sdo1 D cells are functional and that defects in these pathways do not produce the phenotypes observed in sdo1 D yeast. Depletion of mitochondrial DNA(mt DNA) was observed in sdo1 D cells, and this is a probable cause of the mitochondrial insufficiency in SDS. Prior disruption of POR1, encoding the mitochondrial voltage dependent anion channel(VDAC), abrogated the effects of SDO1 deletion and substantially restored resistance to environmental stressors and protected against damage to mt DNA.Conversely, wild-type cells over-expressing POR1 exhibited growth impairment and increased stress sensitivity similar to that seen in sdo1 D cells. Overall, our results suggest that specific VDAC inhibitors may have therapeutic benefits for SDS patients.

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