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Diminished dosage of 22q11 genes disrupts neurogenesis and cortical development in a mouse model of 22q11 deletion/DiGeorge syndrome.

The 22q11 deletion (or DiGeorge) syndrome (22q11DS), the result of a 1.5- to 3-megabase hemizygous deletion on human chromosome 22, results in dramatically increased susceptibility for "diseases of cortical connectivity" thought to arise during development, including schizophrenia and autism. We show that diminished dosage of the genes deleted in the 1.5-megabase 22q11 minimal critical deleted region in a mouse model of 22q11DS specifically compromises neurogenesis and subsequent differentiation in the cerebral cortex. Proliferation of basal, but not apical, progenitors is disrupted, and subse

[Molecular cloning for testis spermatogenesis cell apoptosis related gene TSARG1 and Mtsarg1 and expression analysis for Mtsarg1 gene].

Spermatogenesis cell apoptosis is a very complex process, which needs many molecules to take part in the programmable death of cells in testis. At present, research of apoptosis for spermatogenesis cell is at the primary step. It is very important to clone spermatogenesis cell apoptosis related genes and spermatogenesis genes in testis. Applying the bioinformatics and experiment technique, we have cloned human and mouse novel gene cDNA sequences--human testis and spermatogenesis cell apoptosis related gene 1 (TSARG1) and mouse testis and spermatogenesis cell apoptosis related gene 1(Mtsarg1) f

Immunogenetics of leishmanial and mycobacterial infections: the Belem Family Study.

In the 1970s and 1980s, analysis of recombinant inbred, congenic and recombinant haplotype mouse strains permitted us to effectively 'scan' the murine genome for genes controlling resistance and susceptibility to leishmanial infections. Five major regions of the genome were implicated in the control of infections caused by different Leishmania species which, because they show conserved synteny with regions of the human genome, immediately provides candidate gene regions for human disease susceptibility genes. A common intramacrophage niche for leishmanial and mycobacterial pathogens, and a sim…

Ancient genes establish stress-induced mutation as a hallmark of cancer.

Cancer is sometimes depicted as a reversion to single cell behavior in cells adapted to live in a multicellular assembly. If this is the case, one would expect that mutation in cancer disrupts functional mechanisms that suppress cell-level traits detrimental to multicellularity. Such mechanisms should have evolved with or after the emergence of multicellularity. This leads to two related, but distinct hypotheses: 1) Somatic mutations in cancer will occur in genes that are younger than the emergence of multicellularity (1000 million years [MY]); and 2) genes that are frequently mutated in cance

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… HSB, homologous synteny region; EBR, evolutionarily re-used breakpoint region. … HSB, homologous synteny region; EBR, evolutionarily re-used breakpoint region. …

Всеобъемлющий анализ two Китайские геномы огурцов и мутантов как ресурсы для точного размножения.

Cumuis sativus L., известный как огурец, является важным овощным растениеводством во всем мире, крупнейшим производителем которого является Китай, в особенности северный и южно-китайский типы. В то время как обширные геномные исследования были сосредоточены на Северном Китае, особенно на китайском Лонге. 9930, исследования по Южно-Китайскому типу остаются ограниченными. В этом исследовании мы собрали высококачественные геномы two широко культивируемые и репрезентативные родные разновидности: S36 (тип Северной Китая) и H19 (тип Южной Китая) и провели анализ мутагенезов. Сравнительный анализ ген

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… genes | 27 852 | 24 714 | 25 167 | 27 536 | 25 382 Number of gaps | 6 | 86 | 175 | 4 | 91 Repeat content (%) | 47.30 | 32.50 | 37.20 | 46.25 | 37.70 GC level (%) | 35.50 | 32.56 | 32.51 | 35.09 | 32.53 BUSCOs (%) | 98.8 | 95.5 | 96.6 | 98.7 | 97.6 To elucidate structural divergence, a comparative synteny … Synteny analysis was conducted using the MUMmer package (V3.23) to compare the assembled genomes with the 9930 (v3) genome [ 55 ]. First, NUCmer was used to perform comparisons between genomes with the parameters -mum -mincluster 100. …

Complete genome analysis of two new bacteriophages isolated from impetigo strains of Staphylococcus aureus.

Exfoliative toxin A (ETA)-coding temperate bacteriophages are leading contributors to the toxic phenotype of impetigo strains of Staphylococcus aureus. Two distinct eta gene-positive bacteriophages isolated from S. aureus strains which recently caused massive outbreaks of pemphigus neonatorum in Czech maternity hospitals were characterized. The phages, designated ϕB166 and ϕB236, were able to transfer the eta gene into a prophageless S. aureus strain which afterwards converted into an ETA producer. Complete phage genome sequences were determined, and a comparative analysis of five designed gen

Comparative and Functional Genomic Resource for Mechanistic Studies of Human Blood Pressure-Associated Single Nucleotide Polymorphisms.

The objective of the current study is to use comparative and functional genomic analysis to help to understand the biological mechanism mediating the effect of single nucleotide polymorphisms (SNPs) on blood pressure. We mapped 26 585 SNPs that are in linkage disequilibrium with 1071 human blood pressure-associated sentinel SNPs to 9447 syntenic regions in the mouse genome. Approximately 21.8% of the 1071 linkage disequilibrium regions are located at least 10 kb from any protein-coding gene. Approximately 300 blood pressure-associated SNPs are expression quantitative trait loci for a few dozen

Zebrafish mutants in the von Hippel-Lindau tumor suppressor display a hypoxic response and recapitulate key aspects of Chuvash polycythemia.

We have generated 2 zebrafish lines carrying inactivating germline mutations in the von Hippel-Lindau (VHL) tumor suppressor gene ortholog vhl. Mutant embryos display a general systemic hypoxic response, including the up-regulation of hypoxia-induced genes by 1 day after fertilization and a severe hyperventilation and cardiophysiologic response. The vhl mutants develop polycythemia with concomitantly increased epo/epor mRNA levels and erythropoietin signaling. In situ hybridizations reveal global up-regulation of both red and white hematopoietic lineages. Hematopoietic tissues are highly proli

Non-syndromic progressive hearing loss DFNA38 is caused by heterozygous missense mutation in the Wolfram syndrome gene WFS1.

Dominantly inherited progressive hearing loss DFNA38 is caused by heterozygosity for a novel mutation in WFS1, the gene for recessively inherited Wolfram syndrome. Wolfram syndrome is defined by juvenile diabetes mellitus and optic atrophy and may include progressive hearing loss and other neurological symptoms. Heterozygotes for other Wolfram syndrome mutations generally have normal hearing. Dominant deafness defined by DFNA38 is more severe than deafness of Wolfram syndrome patients and lacks any syndromic features. In a six-generation kindred from Newfoundland, Canada, WFS1 Ala716Thr (2146

Molecular evolution of epididymal lipocalin genes localized on mouse chromosome 2.

We previously identified two murine secretory proteins, mE-RABP(Lcn5) and mEP17(Lcn8), belonging to the lipocalin family and specifically expressed in the epididymis. The genes are contiguous and localized on mouse chromosome 2. We now show that five other related lipocalin genes, Lcn9, Lcn10, Lcn11, Lcn12, and Lcn13, that evolved by in situ tandem duplication are present on the same locus. Lcn9, Lcn10, Lcn12, and Lcn13 genes, like Lcn5 and Lcn8 genes, are specifically expressed in the mouse epididymis. However, each gene has a distinct spatial expression within the epididymis and different re

Human CRYL1, a novel enzyme-crystallin overexpressed in liver and kidney and downregulated in 58% of liver cancer tissues from 60 Chinese patients, and four new homologs from other mammalians.

Lambda-crystallin is a composition of lens in rabbit and hare. It contains the putative NAD- or FAD-binding domain, which is named as HCDH domain in 3-hydroxyacyl-CoA dehydrogenase. In our attempt to search for genes differentially expressed between liver cancer tissues and normal tissues, human CRYL1 (crystallin, lambda 1) was identified. It was downregulated in 58% of 60 Chinese HCC tissue samples. The putative protein encoded by CRYL1 shares 83% identity with rabbit lambda-crystallin and contains two HCDH domains. Interestingly, CRYL1 mRNA level is remarkably high in liver and kidney, while

Регулирование ДИ микроцина и протеолитическое декольте являются уникальными среди известных микроцинов.

Microcin PDI подавляет разнообразие патогенных эшеричий с помощью белка-эффектора, МакпМ. В этом исследовании мы продемонстрировали, что выражение ингибиторского фенотипа вызывается при низких осмолярных условиях, а его выражение контролируется главным образом EnvZ/OmpR. two- компонентная система регулирования. Функциональные, мутагенезовые и дополняющие эксперименты были использованы для эмпирической демонстрации того, что ЭнвЗ требуется для ингибиторского фенотипа и что регулирование mcpM зависит от привязки фосфорилата OmpR к области mcpM. Фосфорилаты могут распознавать three :: различные и

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… According to their structure and gene synteny, microcins are divided into two classes 7 . Class I microcins are small peptides (<5 kDa) that undergo extensive post-translational modifications 8 , 9 . …

Leptin and the pituitary.

In 1994, Zhang et al. of Rockefeller University in New York reported the first successful complementary DNA (cDNA) cloning of leptin by the … a linkage map of rat chromosome 5, whose region of rat is the equivalent to the region of conserved synteny of the db/db mouse gene. The leptin receptor is glycoprotein consisting of a single transmembrane-spanning component. The primary structure of leptin receptor belongs to the cytokine-class1 family, the single membrane-spanning receptor, and is highl …

Unveiling the Role of CCL3: A Driver of CIPN in Colon Cancer Patients?

Cancer neuroscience is an emerging field revealing how malignancies interact with the nervous system to shape disease progression and symptom burden. In colorectal cancer (CRC), increasing evidence suggests a direct interplay between tumor cells and peripheral sensory neurons, contributing not only to cancer progression but also to chemotherapy-induced side effects such as peripheral neuropathy. Chemokines, particularly CCL3, appear to be key players in this bidirectional communication. This literature review aims to critically examine the role of CCL3 in CRC and chemotherapy-induced periphera

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… Systematic classification of vertebrate chemokines based on conserved synteny and evolutionary history. Genes Cells. 2013;18:1–16. doi: 10.1111/gtc.12013. 21. Zhang C., Xu C., Gao X., Yao Q. Platinum-based drugs for cancer therapy and anti-tumor strategies. …

The Genetics and Epigenetics of 22q11.2 Deletion Syndrome.

Chromosome 22q11.2 deletion syndrome (22q11.2del) is a complex, multi-organ disorder noted for its varying severity and penetrance among those affected. The clinical problems comprise congenital malformations; cardiac problems including outflow tract defects, hypoplasia of the thymus, hypoparathyroidism, and/or dysmorphic facial features. Additional clinical issues that can appear over time are autoimmunity, renal insufficiency, developmental delay, malignancy and neurological manifestations such as schizophrenia. The majority of individuals with 22q11.2del have a 3 Mb deletion of DNA on chrom

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… Figure 1 Genetic organization of the human chromosome 22q11.2 locus and synteny on murine chromosome 16. Human chromosome 22 is approximately 51 million base pairs. …

Targeting the two-pore channel 2 in cancer progression and metastasis.

The importance of Ca2+ signaling, and particularly Ca2+ channels, in key events of cancer cell function such as proliferation, metastasis, autophagy and angiogenesis, has recently begun to be appreciated. Of particular note are two-pore channels (TPCs), a group of recently identified Ca2+-channels, located within the endolysosomal system. TPC2 has recently emerged as an intracellular ion channel of significant pathophysiological relevance, specifically in cancer, and interest in its role as an anti-cancer drug target has begun to be explored. Herein, an overview of the cancer-related functions

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… Comprehensive genome and transcriptome analysis of the 11q13 amplicon in human oral cancer and synteny to the 7F5 amplicon in murine oral carcinoma . Genes Chromosomes Cancer . 2006 ; 45 : 1058 – 69 . 10.1002/gcc.20371 16906560 79. Jahidin AH Stewart TA Thompson EW Roberts-Thomson SJ Monteith GR. …

Эволюционно сохраненная созвездие функциональных резинов программирует реагирующую на вирус судьбу человека (эпи)генома.

Здоровье человека зависит от запутанной защитной клеточной реакции на микробные патогены, такие как вирусы. Несмотря на предпринятые значительные усилия, (эпи)геномические механизмы, используемые клетками человека для адаптации программ защитного генного экспрессия к микробным атакам, по-прежнему недостаточно изучены, главным образом из-за значительного отсутствия регистрации в vivo функциональных модулей резного регулирования (КРМ) генома человека. Здесь мы представляем реагирующую на вирус судьбу человека (эпи)генома, описываемого в наивных и инфицированных клетках функциональными геномами,

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… Synteny analysis between human and mouse genomes ChIP-seq peaks and SHAe were aligned to human (hg19) and mouse (mm9) genomes by utilizing the UCSC liftOver tool ( http://www.genome.ucsc.edu/cgi-bin/hgLiftOver ) [ 43 ] with “-minMatch = 0.5” and the appropriate UCSC Pair-wise Chain Alignment. …

Role of Bruton's tyrosine kinase in B cells and malignancies.

Bruton's tyrosine kinase (BTK) is a non-receptor kinase that plays a crucial role in oncogenic signaling that is critical for proliferation and survival of leukemic cells in many B cell malignancies. BTK was initially shown to be defective in the primary immunodeficiency X-linked agammaglobulinemia (XLA) and is essential both for B cell development and function of mature B cells. Shortly after its discovery, BTK was placed in the signal transduction pathway downstream of the B cell antigen receptor (BCR). More recently, small-molecule inhibitors of this kinase have shown excellent anti-tumor a

MicroRNAs and Glucocorticoid-Induced Apoptosis in Lymphoid Malignancies.

The initial response of lymphoid malignancies to glucocorticoids (GCs) is a critical parameter predicting successful treatment. Although being known as a strong inducer of apoptosis in lymphoid cells for almost a century, the signaling pathways regulating the susceptibility of the cells to GCs are only partly revealed. There is still a need to develop clinical tests that can predict the outcome of GC therapy. In this paper, I discuss important parameters modulating the pro-apoptotic effects of GCs, with a specific emphasis on the microRNA world comprised of small players with big impacts. The

Резюме докладов 51st Конференция Европейского общества генетики человека: плакаты

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