scholarly journals Cytogenetic and Array-CGH Characterization of a Simple Case of Reciprocal t(3;10) Translocation Reveals a Hidden Deletion at 5q12

Genes ◽  
2021 ◽  
Vol 12 (6) ◽  
pp. 877
Author(s):  
Angelo Cellamare ◽  
Nicoletta Coccaro ◽  
Maria Cristina Nuzzi ◽  
Paola Casieri ◽  
Marilina Tampoia ◽  
...  
Keyword(s):  
Growth Retardation ◽  
Array Cgh ◽  
Clinical Manifestations ◽  
Postnatal Growth ◽  
Facial Dysmorphism ◽  
Conventional Cytogenetic Analysis ◽  
Wide Range ◽  
Conventional Cytogenetics ◽  
First Time

Chromosome deletions, including band 5q12, have rarely been reported and have been associated with a wide range of clinical manifestations, such as postnatal growth retardation, intellectual disability, hyperactivity, nonspecific ocular defects, facial dysmorphism, and epilepsy. In this study, we describe for the first time a child with growth retardation in which we identified a balanced t(3;10) translocation by conventional cytogenetic analysis in addition to an 8.6 Mb 5q12 deletion through array-CGH. Our results show that the phenotypic abnormalities of a case that had been interpreted as “balanced” by conventional cytogenetics are mainly due to a cryptic deletion, highlighting the need for molecular investigation in subjects with an abnormal phenotype before assuming the cause is an apparently simple cytogenetic rearrangement. Finally, we identify PDE4D and PIK3R1 genes as the two major candidates responsible for the clinical features expressed in our patient.

scholarly journals Enzymic and structural characterization of nepenthesin, a unique member of a novel subfamily of aspartic proteinases

2004 ◽  
Vol 381 (1) ◽  
pp. 295-306 ◽  
Author(s):  
Senarath B. P. ATHAUDA ◽  
Koji MATSUMOTO ◽  
Sanath RAJAPAKSHE ◽  
Masayuki KURIBAYASHI ◽  
Masaki KOJIMA ◽  
...  
Keyword(s):  
Amino Acid ◽  
Computer Modelling ◽  
Structural Characteristics ◽  
Amino Acid Sequences ◽  
Cysteine Residues ◽  
Aspartic Proteinases ◽  
Protein Databases ◽  
Wide Range ◽  
First Time

Carnivorous plants are known to secrete acid proteinases to digest prey, mainly insects, for nitrogen uptake. In the present study, we have purified, for the first time, to homogeneity two acid proteinases (nepenthesins I and II) from the pitcher fluid of Nepenthes distillatoria (a pitcher-plant known locally as badura) and investigated their enzymic and structural characteristics. Both enzymes were optimally active at pH approx. 2.6 towards acid-denatured haemoglobin; the specificity of nepenthesin I towards oxidized insulin B chain appears to be similar, but slightly wider than those of other APs (aspartic proteinases). Among the enzymic properties, however, the most notable is their unusual stability: both enzymes were remarkably stable at or below 50 °C, especially nepenthesin I was extremely stable over a wide range of pH from 3 to 10 for over 30 days. This suggests an evolutionary adaptation of the enzymes to their specific habitat. We have also cloned the cDNAs and deduced the complete amino acid sequences of the precursors of nepenthesins I and II (437 and 438 residues respectively) from the pitcher tissue of N. gracilis. Although the corresponding mature enzymes (each 359 residues) are homologous with ordinary pepsin-type APs, both enzymes had a high content of cysteine residues (12 residues/molecule), which are assumed to form six unique disulphide bonds as suggested by computer modelling and are supposed to contribute towards the remarkable stability of nepenthesins. Moreover, the amino acid sequence identity of nepenthesins with ordinary APs, including plant vacuolar APs, is remarkably low (approx. 20%), and phylogenetic comparison shows that nepenthesins are distantly related to them to form a novel subfamily of APs with a high content of cysteine residues and a characteristic insertion, named ‘the nepenthesin-type AP-specific insertion’, that includes a large number of novel, orthologous plant APs emerging in the gene/protein databases.

scholarly journals First Apocarotenoids Profiling of Four Microalgae Strains

Antioxidants ◽  
2019 ◽  
Vol 8 (7) ◽  
pp. 209 ◽  
Author(s):  
Mariosimone Zoccali ◽  
Daniele Giuffrida ◽  
Fabio Salafia ◽  
Carmen Socaciu ◽  
Kari Skjånes ◽  
...  
Keyword(s):  
Supercritical Fluid ◽  
Fatty Acid Esters ◽  
Nannochloropsis Gaditana ◽  
Tetraselmis Chuii ◽  
Chromatography Tandem Mass Spectrometry ◽  
Wide Range ◽  
First Time ◽  
Chlamydomonas Sp ◽  
Acid Esters

Both enzymatic or oxidative carotenoids cleavages can often occur in nature and produce a wide range of bioactive apocarotenoids. Considering that no detailed information is available in the literature regarding the occurrence of apocarotenoids in microalgae species, the aim of this study was to study the extraction and characterization of apocarotenoids in four different microalgae strains: Chlamydomonas sp. CCMP 2294, Tetraselmis chuii SAG 8-6, Nannochloropsis gaditana CCMP 526, and Chlorella sorokiniana NIVA-CHL 176. This was done for the first time using an online method coupling supercritical fluid extraction and supercritical fluid chromatography tandem mass spectrometry. A total of 29 different apocarotenoids, including various apocarotenoid fatty acid esters, were detected: apo-12’-zeaxanthinal, β-apo-12’-carotenal, apo-12-luteinal, and apo-12’-violaxanthal. These were detected in all the investigated strains together with the two apocarotenoid esters, apo-10’-zeaxanthinal-C4:0 and apo-8’-zeaxanthinal-C8:0. The overall extraction and detection time for the apocarotenoids was less than 10 min, including apocarotenoids esters, with an overall analysis time of less than 20 min. Moreover, preliminary quantitative data showed that the β-apo-8’-carotenal content was around 0.8% and 2.4% of the parent carotenoid, in the C. sorokiniana and T. chuii strains, respectively. This methodology could be applied as a selective and efficient method for the apocarotenoids detection.

Report of Jacobsen syndrome with a mild facial dysmorphism, severe hearing impairment and thrombocytopenia

2012 ◽  
Vol 19 (1) ◽  
pp. 1-6
Author(s):  
Vaidas DIRSĖ ◽  
Loreta CIMBALISTIENĖ ◽  
Jūratė KASNAUSKIENĖ ◽  
Vaidutis KUČINSKAS
Keyword(s):  
Cytogenetic Analysis ◽  
Array Cgh ◽  
Phenotypic Expression ◽  
Facial Dysmorphism ◽  
Balanced Translocation ◽  
Jacobsen Syndrome ◽  
Molecular Cytogenetic ◽  
Wide Range ◽  
Precise Analysis ◽  
11Q Deletion

Background. Jacobsen syndrome is a rare syndrome with variable phenotypic expression depending on the breakpoints and the size of 11q deletion. There is presented a wide range of phenotypes of varying severity. Detailed molecular cytogenetic analysis leads to better knowledge of genetic causes of this syndrome. Materials and methods. Molecular cytogenetic analysis using subtelomeric FISH and array CGH was performed for a patient with Jacobsen syndrome. Results. Subtelomeric FISH detected an unbalanced translocation 46,XY,der(11)t(11;13)(q24.2;p11.2) of our patient. Array CGH analysis revealed a 13.95 Mb terminal deletion of the 11q23.3 region (breakpoint positions 120, 505, 418–134, 452, 384, NCBI build 36). FISH and GTG banding analysis identified a balanced translocation 46,XX,t(11;13) (q24.2;p11.2) of patient’s mother. Conclusions. The results of this case report suggest the need of combining both molecular cytogenetic methods: array CGH and FISH for precise analysis of patients with Jacobsen syndrome.

scholarly journals Wolf-Hirschhorn Syndrome: Clinical and Genetic Study of 7 New Cases, and Mini Review

Children ◽  
2021 ◽  
Vol 8 (9) ◽  
pp. 751
Author(s):  
Eva-Cristiana Gavril ◽  
Alina Costina Luca ◽  
Alexandrina-Stefania Curpan ◽  
Roxana Popescu ◽  
Irina Resmerita ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Growth Retardation ◽  
Screening Method ◽  
Postnatal Growth ◽  
Chromosomal Microarray ◽  
Clinical Aspects ◽  
Facial Dysmorphism ◽  
Chromosomal Microarray Analysis ◽  
Renal Anomalies ◽  
Craniofacial Dysmorphism

Wolf–Hirschhorn syndrome (WHS), a rare disorder determined by distal 4p deletion, is characterized by a pre and postnatal growth retardation, hypotonia, intellectual disability, epilepsy, craniofacial dysmorphism, and congenital fusion anomalies. The clinical aspects are dependent on the deletion’ size. Our aim was to identify rare specific characteristics in a cohort of seven cases with 4p deletion and to assess the utility of Multiplex ligation-dependent probe amplification (MLPA) (cheap and sensitive test)—combined kits—as a diagnostic test and selection tool for cases that require other investigations (chromosomal microarray analysis—CMA, karyotype). For all cases we conducted a clinical examination with the main features identified: facial dysmorphism, intellectual disability, postnatal development delay, cardiac defects and hypotonia. In some cases, we observed seizures, structural brain abnormalities, immunodeficiencies, and renal anomalies. Prenatal growth retardation was detected in a relatively small number of cases, but postnatal growth failure was a constant feature. In all cases, the clinical diagnosis was confirmed by genetic analyses: karyotype and/or MLPA. In conclusion, renal and brain defects, as well as immunodeficiency are rare manifestations and should be looked for. Although CMA is the standard test, in our experience, MLPA is also a reliable screening method as the identified cases were either confirmed by MLPA or selected for further investigations.

scholarly journals Novel Insights into Anthocyanin Metabolism and Molecular Characterization of Associated Genes in Sugarcane Rinds Using the Metabolome and Transcriptome

2021 ◽  
Vol 23 (1) ◽  
pp. 338
Author(s):  
Muhammad Junaid Rao ◽  
Mingzheng Duan ◽  
Mingchong Yang ◽  
Hongzeng Fan ◽  
Songhao Shen ◽  
...  
Keyword(s):  
Anthocyanin Biosynthesis ◽  
Saccharum Officinarum ◽  
Limited Information ◽  
Wild Type ◽  
Myb Gene ◽  
Wide Range ◽  
Transgenic Lines ◽  
Promising Source ◽  
First Time

Saccharum officinarum (sugarcane) is the fifth major cultivated crop around the world. Sugarcane rind is a promising source for anthocyanin pigments; however, limited information is available on the anthocyanin and its biosynthesis in sugarcane rinds. In this study, we have quantified 49 compounds including 6 flavonoids and 43 anthocyanins in the rind of 6 sugarcane cultivars by using LCMS/MS approach. Thirty of them were quantified for the first time in sugarcane. The 43 anthocyanins included 10 cyanidin (Cya), 11 pelargonidin (Pel), 9 peonidin (Peo), 5 malvidin (Mal), 4 delphinidin (Del), and 4 petunidin (Pet) metabolites. High contents of Cya derivatives were observed in the rind of YT71/210 (dark purple rind), such as cya-3-O-(6-O-malonyl)-glu 1283.3 µg/g and cya-3-O-glu 482.67 µg/g followed by ROC22 (red rind) 821.3 µg/g and 409 µg/g, respectively, whereas the YT93/159 (green rind) showed a minimum level of these compounds. Among six cultivars, ROC22 rind has high levels of Peo derivatives such as peo-3-O-glu (197 µg/g), peo-3-O-(6-O-malonyl)-glu (69 µg/g) and peo-3-O-(6-O-p-coumaryl)-glu (55.17 µg/g). The gene expression analysis revealed that some genes, including a MYB(t) gene, were highly associated with the color phenotype. Thus, we cloned and overexpressed the gene in Arabidopsis and found the pinkish brown color in the hypocotyl of all transgenic lines compared with the wild type. Hence, we have quantified a wide range of anthocyanins in major sugarcane cultivars, reported many new anthocyanins for the first time, and concluded that Cya and Peo derivatives are the major contributing factor of dissimilar colors in sugarcane. The finding and the verification of a novel MYB gene involved in anthocyanin biosynthesis have demonstrated that our study was very valuable for gene discovery and genetic improvement of sugarcane cultivars to harvest high anthocyanin contents.

Genomic Characterization of a Rare, de Novo Unbalanced ins(3;1)(p25.3;q21.3q23.3) in a Female Child with Multiple Congenital Anomalies

2020 ◽  
Vol 160 (10) ◽  
pp. 579-588
Author(s):  
Martha L. Ornelas-Arana ◽  
Guillermo Pérez-Garcia ◽  
Carla D. Robles-Espinoza ◽  
Martha M. Rangel-Sosa ◽  
Carolina Castaneda-Garcia ◽  
...  
Keyword(s):  
De Novo ◽  
Clinical Manifestations ◽  
Recurrence Risk ◽  
Female Child ◽  
Clinical Findings ◽  
Facial Dysmorphism ◽  
End Joining ◽  
Position Effects ◽  
Genomic Characterization

“Simple” 1-way interchromosomal insertions involving an interstitial 1q segment are rare, and therefore, their characterization at the base pair level remains understudied. Here, we describe the genomic characterization of a previously unreported de novo interchromosomal insertion (3;1) entailing an about 12-Mb pure gain of 1q21.3q23.3 that causes typical (microcephaly, developmental delay, and facial dysmorphism) and atypical (interauricular communication, small feet with bilateral deep plantar creases, syndactyly of II-IV toes, and mild pachyonychia of all toes) clinical manifestations associated with this region. Based on our analyses, we hypothesize that the duplication of a subset of morbid genes (including <i>LMNA</i>, <i>USF1</i>, <i>VANGL2</i>, <i>LOR</i>, and <i>POGZ</i>) could account for most clinical findings in our patient. Furthermore, the apparent disruption of a promoter region (between <i>CPNE9</i> and <i>BRPF1</i>) and a topologically associated domain also suggests likely pathogenic reconfiguration/position effects to contribute to the patient’s phenotype. In addition to further expanding the clinical spectrum of proximal 1q duplications and evidencing the phenotypical heterogeneity among similar carriers, our genomic findings and observations suggest that randomness – rather than lethality issues – may account for the paucity of “simple” interchromosomal insertions involving the 1q21.3q23.3 region as genomic donor and distal 3p25.3 as receptor. Moreover, the microhomology sequence found at the insertion breakpoint is consistent with a simple nonhomologous end-joining mechanism, in contrast to a chromothripsis-like event, which has previously been seen in other nonrecurrent insertions. Taken together, the data gathered in this study allowed us to inform this family about the low recurrence risk but not to predict the reproductive prognosis for hypothetical carriers. We highlight that genomic-level assessment is a powerful tool that allows the visualization of the full landscape of sporadic chromosomal injuries and can be used to improve genetic counseling.

scholarly journals First study of Cryptosporidium spp. occurrence in eared doves (Zenaida auriculata)

2019 ◽  
Vol 28 (3) ◽  
pp. 489-492
Author(s):  
Mércia de Seixas ◽  
Alessandra Taroda ◽  
Sérgio Tosi Cardim ◽  
João Pedro Sasse ◽  
Thais Agostinho Martins ◽  
...  
Keyword(s):  
Molecular Characterization ◽  
Protozoan Parasite ◽  
18S Rrna Gene ◽  
Pcr Analysis ◽  
Rrna Gene ◽  
Cryptosporidium Spp ◽  
Potential Source ◽  
Wide Range ◽  
First Time

Abstract Cryptosporidium is a protozoan parasite with a wide range of hosts, including humans. However, only a few Cryptosporidium species have been described in birds (C. meleagridis, C. baileyi, C. galli and C. avium). The aim of this study was to investigate the occurrence of Cryptosporidium spp. in feces of eared doves (Zenaida auriculata), followed by molecular characterization of the parasite. A total of 196 animals of both sexes were trap-captured; the animals were culled and the intestinal contents were collected for DNA extraction. After extraction, a nested-PCR (nPCR), which amplifies a fragment of the 18S rRNA gene of Cryptosporidium spp., was performed. The amplicons obtained were purified and sequenced. PCR analysis revealed that 30 animals (15.3%) were positive for Cryptosporidium spp. There was no significant sex-dependent enrichment of Cryptosporidium occurrence (p > 0.05). Only 15 out of the 30 positive samples were successfully sequenced and their species determined, of which, 13 (86.7%) and 2 (13.3%) were C. meleagridis and C. galli, respectively. Herein, we present for the first time a molecular characterization of Cryptosporidium from feces of eared doves (Z. auriculata) and propose that these birds are a potential source of C. meleagridis infection in humans.

Microdeletion in the IGF-1 receptor gene of a patient with short stature and obesity: a case report

2021 ◽  
Vol 34 (2) ◽  
pp. 255-259
Author(s):  
Jong Seo Yoon ◽  
Il Tae Hwang
Keyword(s):  
Growth Hormone ◽  
Short Stature ◽  
Growth Retardation ◽  
Receptor Gene ◽  
Recombinant Human Growth Hormone ◽  
Elevated Serum ◽  
Clinical Manifestations ◽  
Postnatal Growth ◽  
Hormone Deficiency ◽  
Rhgh Treatment

Abstract Objectives Defects in the IGF-1 receptor gene (IGF1R) induce IGF-1 resistance, characterized by intrauterine and postnatal growth retardation, normal or elevated serum IGF-1 levels, and feeding problems. Obesity, idiopathic growth hormone deficiency (IGHD), bone age advancement, and serum IGF-1 level in the lower half of the reference range are very rare clinical features in patients with IGF1R defects. Case presentation In this study, we report the atypical clinical manifestations of IGF1R defects. Short stature girl born small for gestational age were initially diagnosed with IGHD. No catch-up growth was achieved despite sufficiently elevated IGF-1 levels after recombinant human growth hormone (rhGH) treatment. Single nucleotide polymorphism microarray analysis finally confirmed terminal deletion of 15q26.2q26.3 in the subject. Conclusion Intrauterine growth retardation, postnatal growth failure, and IGF-1 resistance during rhGH treatment are homologous features exhibited by affected patients, and may be predictive of IGF1R defects.

scholarly journals Circuit Techniques in GaN Technology for High-Temperature Environments

Electronics ◽  
2021 ◽  
Vol 11 (1) ◽  
pp. 42
Author(s):  
Ahmad Hassan ◽  
Jean-Paul Noël ◽  
Yvon Savaria ◽  
Mohamad Sawan
Keyword(s):  
High Temperature ◽  
Integrated Circuits ◽  
National Research Council ◽  
Logic Gates ◽  
Voltage Reference ◽  
Flip Flop ◽  
Wide Range ◽  
Circuit Techniques ◽  
First Time

As a wide bandgap semiconductor, Gallium Nitride (GaN) device proves itself as a suitable candidate to implement high temperature (HT) integrated circuits. GaN500 is a technology available from the National Research Council of Canada to serve RF applications. However, this technology has the potential to boost HT electronics to higher ranges of operating temperatures and to higher levels of integration. This paper summarizes the outcome of five years of research investigating the implementation of GaN500-based circuits to support HT applications such as aerospace missions and deep earth drilling. More than 15 integrated circuits were implemented and tested. We performed the HT characterization of passive elements integrated in GaN500 including resistors, capacitors, and inductors up to 600 °C. Moreover, we developed for the first time several digital circuits based on GaN500 technology, including logic gates (NOT, NAND, NOR), ring oscillators, D Flip-Flop, Delay circuits, and voltage reference circuits. The tested circuits are fabricated on a 4 mm × 4 mm chip to validate their functionality over a wide range of temperatures. The logic gates show functionality at HT over 400 °C, while the voltage reference circuits remain stable up to 550 °C.

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