Combining WV-2 images and tree physiological factors to detect damage stages of Populus gansuensis by Asian longhorned beetle (Anoplophora glabripennis) at the tree level

Background Anoplophora glabripennis (Motschulsky), commonly known as Asian longhorned beetle (ALB), is a wood-boring insect that can cause lethal infestation to multiple borer leaf trees. In Gansu Province, northwest China, ALB has caused a large number of deaths of a local tree species Populus gansuensis. The damaged area belongs to Gobi desert where every single tree is artificially planted and is extremely difficult to cultivate. Therefore, the monitoring of the ALB infestation at the individual tree level in the landscape is necessary. Moreover, the determination of an abnormal phenotype that can be obtained directly from remote-sensing images to predict the damage degree can greatly reduce the cost of field investigation and management. Methods Multispectral WorldView-2 (WV-2) images and 5 tree physiological factors were collected as experimental materials. One-way ANOVA of the tree’s physiological factors helped in determining the phenotype to predict damage degrees. The original bands of WV-2 and derived vegetation indices were used as reference data to construct the dataset of a prediction model. Variance inflation factor and stepwise regression analyses were used to eliminate collinearity and redundancy. Finally, three machine learning algorithms, i.e., Random Forest (RF), Support Vector Machine (SVM), Classification And Regression Tree (CART), were applied and compared to find the best classifier for predicting the damage stage of individual P. gansuensis. Results The confusion matrix of RF achieved the highest overall classification accuracy (86.2%) and the highest Kappa index value (0.804), indicating the potential of using WV-2 imaging to accurately detect damage stages of individual trees. In addition, the canopy color was found to be positively correlated with P. gansuensis’ damage stages. Conclusions A novel method was developed by combining WV-2 and tree physiological index for semi-automatic classification of three damage stages of P. gansuensis infested with ALB. The canopy color was determined as an abnormal phenotype that could be directly assessed using remote-sensing images at the tree level to predict the damage degree. These tools are highly applicable for driving quick and effective measures to reduce damage to pure poplar forests in Gansu Province, China.

A case of deletion 8q22.2q22.3 in a child with de novo balanced translocation t(1;6)

Выяснение этиопатогенеза аномального фенотипа у пациентов со сбалансированными транслокациями является актуальным аспектом в современной клинической цитогенетике. Формирование аномалий развития может быть ассоциировано с наличием скрытого геномного дисбаланса как в точках разрывов, так и на хромосомах, не задействованных в перестройке. Целью данного исследования явилась этиологическая диагностика геномного дисбаланса у пациента со сбалансированной транслокацией и аномалиями развития. Для детекции геномного дисбаланса у пациента со сбалансированной транслокацией использовали хромосомный микроматричный анализ (ХМА) и FISH-исследование. У пациента со сбалансированной транслокацией при ХМА была выявлена делеция на хромосоме 8, не задействованной в транслокации. Таким образом, в статье представлен новый случай делеции 8q22.2q22.3 у пациента со сбалансированной транслокацией t(1;6) и аномалиями развития вследствие делеции. Identification of the etiopathogenesis of the abnormal phenotype in patients with balanced translocations is current trend in cytogenetic laboratories. The formation of developmental anomalies can be associated with the presence of a cryptic genomic imbalance both at breakpoints and on chromosomes not involved in rearrangements.The aim of this study is diagnostics of genomic imbalance in a patient with balanced translocation and abnormal phenotype. The case was characterized by GTG-banding, chromosomal microarray analysis and FISH diagnosis. We present a new case of deletion 8q22.2-q22.3 in child with balanced translocation t(1;6) and developmental delay/congenital defects due to deletion.

Mutant Zp1 impedes incorporation of ZP3 and ZP4 in the zona pellucida, resulting in zona absence and female infertility in rats

The zona pellucida (ZP) plays vital roles in reproductive processes including oogenesis, fertilization and preimplantation development. Both human and rat ZP consist of four glycoproteins, called ZP1, ZP2, ZP3 and ZP4. Our previous research reported a novel Zp1 mutation in cases of human infertility, associated with an abnormal phenotype involving the absence of the zona pellucida. Here, we developed a homologous rat strain to investigate the pathogenic effect. The ovaries of homozygous (Zp1MT/MT) females possessed both growing and fully grown oocytes; the oocytes completely lacked a zona pellucida, but ZP1 was detectable inside the cytoplasm. Only 1-2 eggs were recovered from oviducts of superovulated Zp1MT/MT females, while ≈ 21 eggs were recovered from superovulated Zp1WT/WT females. The eggs of Zp1MT/MT females were not surrounded by a zona pellucida and lost their fertilization capacity in vitro. Zp1MT/MT females mated with wild-type males failed to become pregnant. Studies in 293 T cells showed that mutant Zp1 resulted in a truncated ZP1 protein, which might be intracellularly sequestered and interact with wild-type ZP3 or ZP4. Our results suggest that the Zp1 point mutation led to infertility and loss of the ZP in oocytes in rats.

Combining WV-2 Images and Tree Physiological Factors to Detect Damage Stages of Populus gansuensis by Asian Longhorned Beetle (Anoplophora glabripennis) at the Tree Level

Background Anoplophora glabripennis (Motschulsky), commonly known as Asian longhorned beetle (ALB), is a wood-boring insect that can cause lethal infestation to multiple borer leaf trees. In Gansu Province, northwest China, ALB has caused a large number of deaths of a local tree species Populus gansuensis. The damaged area belongs to Gobi desert where every single tree is artificially planted and is extremely difficult to cultivate. Therefore, the monitoring of the ALB infestation at the individual tree level in the landscape is necessary. Moreover, the determination of an abnormal phenotype that can be obtained directly from remote-sensing images to predict the damage degree can greatly reduce the cost of field investigation and management. Methods Multispectral WorldView-2 (WV-2) images and 5 tree physiological factors were collected as experimental materials. One-way ANOVA of the tree’s physiological factors helped in determining the phenotype to predict damage degrees. The original bands of WV-2 and derived vegetation indices were used as reference data to construct the dataset of a prediction model. Variance inflation factor and stepwise regression analyses were used to eliminate collinearity and redundancy. Finally, three machine learning algorithms—Random Forest(RF), Support Vector Machine༈SVM༉, Classification And Regression Tree༈CART༉—were applied and compared to find the best classifier for predicting the damage stage of individual P. gansuensis. Results The confusion matrix of RF achieved the highest overall classification accuracy (86.2%) and the highest Kappa index value (0.804), indicating the potential of using WV-2 imaging to accurately detect damage stages of individual trees. In addition, the canopy color was found to be positively correlated with P. gansuensis’ damage stages. Conclusions A novel method was developed by combining WV-2 and tree physiological index for semi-automatic classification of three damage stages of P. gansuensis infested with ALB. The canopy color was determined as an abnormal phenotype that could be directly assessed using remote-sensing images at the tree level to predict the damage degree. These tools are highly applicable for driving quick and effective measures to reduce damage to pure poplar forests in Gansu Province, China.

Characterization of genomic imbalance in patients with balanced chromosomal rearrangements and abnormal phenotypes

Идентификация причин формирования аномалий развития у пациентов со сбалансированными хромосомными перестройками на сегодняшний день является актуальным и не в полной мере изученным направлением в цитогенетической практике, требующим разработки уникального подхода с использованием современных молекулярно-генетических технологий. Целью данного исследования явилась этиологическая диагностика геномного дисбаланса у пациентов со сбалансированными хромосомными перестройками и аномалиями развития. 20 пациентов с аномальным фенотипом и сбалансированными хромосомными перестройками, выявленными при стандартном кариотипировании, были обследованы методами хромосомного микроматричного анализа (ХМА) и FISH. Геномный дисбаланс (CNV) обнаружен в 13 случаях из 20, что составило 65%. Использование ХМА позволило установить, что в 69,2% случаев носительства сбалансированных хромосомных перестроек причиной аномального фенотипа являлось наличие микроделеций/микродупликаций, ассоциированных с точками разрывов при перестройках, а в 20,8% случаев наблюдались микроделеции/микродупликации на хромосомах, не задействованных в аберрациях. Несмотря на то, что ХМА позволил выявить причины аномалий развития в большинстве случаев, 7 пациентам (35%) не удалось установить окончательный молекулярно-цитогенетический диагноз. Более того, у некоторых пациентов выявленные CNVs не полностью отражают генотип-фенотип корреляцию, что требует проведения дополнительных молекулярно-генетических исследований. При отсутствии геномного дисбаланса при ХМА, а также при неполной генотип-фенотип корреляции, диагностика этиологии аномалий развития и патологического фенотипа должна быть продолжена молекулярными методами более высокого разрешения. Identification of genomic imbalances in cases with balanced chromosomal rearrangements and abnormal phenotype is a current trends in cytogenetics practice, requiring the development of unique approach using modern molecular genetic technologies. The aim of this study is diagnostics etiologies of the abnormal phenotype in patients with balanced chromosomal rearrangements. We report the investigations results of 20 patients with abnormal phenotype and balanced chromosomal rearrangements by conventional cytogenetic analysis. Genomic imbalances by microarray studies detected in 13 of 20 cases (65%). Most of CNVs was microdeletion or microduplication at a rearrangement breakpoint (69.2%) and 20.8% microdeletion/microduplication in other chromosomes.

Relationship of human heterochromatin and congenital malformations

Aim. The variability of centromeric heterochromatin of the chromosome pairs 1,9 and 16 was studied in material pro- vided by the Cytogenetic Counselling Centre. Materials and methods. The size of bands 1q12, 9q12 and 16q11 was classified as normal, larger, very large, narrow and pericentric inversion. The karyotypes under study were divided into four groups: (I) from persons with abnormal karyotype and abnor-mal phenotype, ( I I ) from persons with abnormal phenotype and normal karyotype, (III) from healthy nearest relatives (parents and sibs) of persons with abnormal phenotype and karyotype, (I V ) from normal healthy persons with normal phenotype and karyotype without any congenital malformations in the family history. Results. A different variability of centromeric hetero-chromatin of chromosomes 1 , 9 and 16 was observed. Quite a low variability was found in chromosome 16, while chromosomes 9 and 1 showed a high degree of variability, which was more accentuated in chromosome 9 than in chromo-some 1 . Conclusions. In all four groups there was a similar pattern of variability with the only exception in the group of nearest relatives of children with abnormal phenotype and karyotype where an unusually narrow band 1q12 was more fre- quently detected.

Spastin Interacts with CRMP5 to Promote Spindle Organization of Mouse Oocytes by Severing Microtubules.

Background ： Microtubule-severing protein (MTSP) is highly critical for the survival of both mitotic and post-mitotic cells.However, the study of MTSP in the meiosis of mammalian oocyte has not been reported. Results ：We found that spastin, a member of the MTSP family, was highly expressed in oocyte and aggregated in spindle microtubules. After knocking down spastin by specific siRNA, the spindle microtubule density of meiotic oocyte decreased significantly. When the oocyte was cultured in vitro, the oocyte lacking spastin showed obvious maturation obstacles. Combining with the microtubule severing activity of spastin, we speculate that spastin on spindle may increase the microtubule broken ends by severing microtubules, thus playing a nucleating role, promoting spindle assembly and ensuring normal meiosis. In addition, we found that there was co-localization and interaction between CRMP5 and spastin in oocyte. The knockdown of CRMP5 may also lead to spindle abnormalities and developmental disorders in oocyte. Overexpression of spastin may save the abnormal phenotype caused by deletion of CRMP5. Conclusions ：To sum up, our data support a model in which the interaction between spastin and CRMP5 promotes the assembly of spindle microtubules in oocyte by controlling microtubule dynamics, thus ensuring normal meiosis.