scholarly journals Clinical description and mutational profile of a Moroccan series of patients with Rubinstein Taybi syndrome

2021 ◽  
Vol 21 (2) ◽  
pp. 960-967
Author(s):  
Siham Chafai Elalaoui ◽  
Wiam Smaili ◽  
Julien Van-Gils ◽  
Patricia Fergelot ◽  
Ilham Ratbi ◽  
...  
Keyword(s):  
Direct Sequencing ◽  
Major Gene ◽  
Point Mutations ◽  
Molecular Study ◽  
Molecular Data ◽  
Clinical Expertise ◽  
Cgh Array ◽  
Clinical Description ◽  
Moroccan Patients ◽  
Crebbp Gene

Background: Rubinstein-Taybi syndrome (RSTS; OMIM 180849) is a rare autosomal dominant developmental disorder with an estimated prevalence of one case per 125,000 live births. RSTS is characterized by typical face, broad thumbs and halluces, short stature, and intellectual disability. Facial dysmorphy is characteristic with microcephaly, low frontal hairline, arched eyebrows, long eyelashes, convex profile of nose, narrow palate, and micrognathia. RSTS is mainly due to mutations or microdeletions of the CREBBP gene (about 60%) and more rarely of the EP300 gene (8%). Objective: Clinical description and identification of mutations of patients with Rubinstein Taybi syndrome. Methods: PCR and direct sequencing of CREBBP gene. Results: We report here, the clinical and molecular data of a series of six Moroccan patients with a phenotype of RSTS. The molecular study of the major gene CREBBP (by Sanger Sequencing followed by CGH array, if sequence normal) revealed point mutations in five patients. For the sixth patient, CGH array revealed a microdeletion carrying the CREBBP gene. Through this work, we emphasize the importance of clinical expertise in the diagnosis, management and genetic counseling in Rubinstein Taybi syndrome. Keywords: Rubinstein Taybi syndrome; CREBBP gene; mutation; Moroccan.

scholarly journals Combination of nuclear and mitochondrial markers as a useful tool to identify Ctenophthalmus species and subspecies (Siphonaptera: Ctenophthalmidae)

2021 ◽  
Author(s):  
Antonio Zurita ◽  
Cristina Cutillas
Keyword(s):  
Taxonomic Status ◽  
Molecular Study ◽  
Molecular Data ◽  
Point Of View ◽  
Morphological Data ◽  
Molecular Approach ◽  
Nuclear Marker ◽  
Mitochondrial Markers ◽  
Morphological Criteria ◽  
Mtdna Markers

AbstractCtenophthalmus is considered the largest genus within the Order Siphonaptera. From a morphological point of view, only males of this genus can be identified at species and subspecies levels using morphological keys, whereas there are no morphological criteria in order to classify females at these taxonomical levels. Furthermore, the amount of available molecular and phylogenetic data for this genus is quite scarce so far. The main objective of this work was to assess the utility of the combination of nuclear and mitochondrial markers with respect to their ability to differentiate among different subspecies within the Ctenophthalmus genus. With this purpose, we carried out a comparative morphological and molecular study of three different subspecies (Ctenophthalmus baeticus arvernus, Ctenophthalmus nobilis dobyi, and Ctenophthalmus andorrensis catalaniensis) in order to clarify and discuss its taxonomic status. In addition, our study complemented the molecular data previously provided for Ctenophthalmus baeticus boisseauorum and Ctenophthalmus apertus allani subspecies. We sequenced five different molecular markers: EF1-α, ITS1, ITS2, cox1, and cytb. Our results confirmed that morphological data by themselves are not able to discriminate among Ctenophthalmus female taxa; however, the combination of the nuclear marker EF1-α together with mtDNA markers cytb and cox1 constituted a useful taxonomical and phylogenetic tool to solve this issue. Based on these results, we consider that the use of this molecular approach should be gradually used within Ctenophthalmus genus in order to complement its classical taxonomy and clarifying the complex taxonomy of other congeneric species of fleas.

scholarly journals A fungus-eat-fungus world: Digitopodium, with particular reference to mycoparasites of the coffee leaf rust, Hemileia vastatrix

IMA Fungus ◽  
2021 ◽  
Vol 12 (1) ◽  
Author(s):  
Adans A. Colmán ◽  
Harry C. Evans ◽  
Sara S. Salcedo-Sarmiento ◽  
Uwe Braun ◽  
Kifle Belachew-Bekele ◽  
...  
Keyword(s):  
Leaf Rust ◽  
Democratic Republic Of Congo ◽  
Sequence Data ◽  
Molecular Study ◽  
Classical Biological Control ◽  
Coffea Canephora ◽  
Molecular Data ◽  
Phylogenetic Position ◽  
Hemileia Vastatrix ◽  
Coffee Leaf Rust

AbstractDigitopodium hemileiae was described originally in 1930 as Cladosporium hemileiae; growing as a mycoparasite of the coffee leaf rust (CLR), Hemileia vastatrix, in a sample of diseased leaves of Coffea canephora collected in the Democratic Republic of Congo. No cultures from this material exist. More recently, the type material was re-examined and, based on morphological features, considered to be incorrectly placed in Cladosporium. The new genus Digitopodium was erected to accommodate this species. Interest in fungal antagonists of H. vastarix, as potential biocontrol agents of CLR, led to comprehensive surveys for mycoparasites, both in the African centre of origin of the rust, as well as in its South American exotic range. Among the rust specimens from Ethiopia, one was found to be colonized by a fungus congeneric with, and similar to, D. hemileiae. Pure cultures obtained from the Ethiopian material enabled a molecular study and for its phylogenetic position to be elucidated, based on DNA sequence data from the ITS and LSU regions. Molecular data showed that two members of the recently erected genus Hyalocladosporiella (Herpotrichiellaceae: Chaetothyriales) are congeneric with Digitopodium from Ethiopia and morphologically similar to both D. hemileiae and the two Ethiopian isolates. These isolates were found to be morphologically and genetically identical to H. tectonae, described previously from Brazil. Thus, species of Hyalocladosporiella are re-allocated to Digitopodium here; including D. tectonae, and a novel species, D. canescens, recently found in Brazil growing as a mycoparasite of Puccinia thaliae. The potential use of D. hemileiae and D. tectonae for classical biological control of CLR is discussed.

scholarly journals A re-examination of the molecular systematics and phylogeography of taxa of the Peromyscus aztecus species group, with comments on the distribution of P. winkelmanni

Therya ◽  
2021 ◽  
Vol 12 (2) ◽  
pp. 331-346
Author(s):  
C. William Kilpatrick ◽  
Nelish Pradhan ◽  
Ryan W Norris
Keyword(s):  
Phylogenetic Analyses ◽  
Distinct Species ◽  
Molecular Study ◽  
Molecular Data ◽  
Species Group ◽  
Cytb Sequence ◽  
Voucher Specimen ◽  
Cranial Measurements ◽  
Mitochondrial Cytochrome B ◽  
Isthmus Of Tehuantepec

The objectives of this study are to examine the available molecular data from the mitochondrial cytochrome-b gene (Cytb) and a concatenated dataset with this gene and two nuclear introns (Adh-1-I2 and Fgb-I7) to reexamine the systematic and phylogeographic conclusions reached by Sullivan et al. (1997) concerning the Peromyscus aztecus species group. The divergence of samples of P. aztecus oaxacensis across the Isthmus of Tehuantepec are further examined and taxonomic revisions are suggested. In addition, this study reviews the sources of data that lead to the conclusion that P. winkelmanni occurred in the Sierra Madre del Sur in Guerrero including a morphometric examination of a reported voucher. Bayesian and maximum likelihood analyses were conducted on a dataset of 31 Cytb sequences of all taxa in the P. aztecus group except for P. a. cordillerae and a concatenated dataset including five individuals of this group. Representative taxa of the P. boylii, P. mexicanus, and P. truei groups were included in both analyses. Body and cranial measurements of the voucher of the P. winkelmanni from Guerrero from which a Cytb sequence is reported to have been obtained was compared with measurements from specimens taken from the vicinity of Dos Aguas, Michoacán, including the type locality. We identified seven instances involving problematic identifications in GenBank. Once these issues were addressed, well-supported monophyletic sister clades of the P. aztecus and P. boylii species groups were recovered from phylogenetic analyses of Cytb sequences (Fig 1). Phylogenetic analyses of the Cytb and the concatenated datasets recover similar topologies that support the relationships of taxa of the aztecus group proposed by an earlier molecular study. Populations of P. a. oaxacensis southeast of the Isthmus of Tehuantepec represent a distinct species. Measurements of the voucher from Guerrero identified as the source of a P. winkelmanni Cytb sequence are smaller than P. winkelmanni for several characters. The divergent populations of P. a. oaxacensis from southeast of the Isthmus of Tehuantepec are recognized as two subspecies of P. cordillerae, P. c. cordillerae and P. c. hondurensis, whereas those northwest of the Isthmus are retained as P. a. oaxacensis. The lack of genetic divergence observed between P. a. evides and P. a. oaxacensis questions whether these two taxa should continue to be recognized as separate subspecies. Northern and southern populations of P. spicilegus demonstrate moderate divergence and additional examination of morphological and molecular differentiation within this taxon is warranted. The distribution of P. winkelmanni should be restricted to the vicinity of Dos Aguas, Michoacán, due to the lack of a voucher specimen that would confirm its reported occurrence in Guerrero.

Description of two new species of Rhamphus related to R. oxyacanthae (Curculionidae, Curculioninae, Rhamphini) from Italy based on a morphological study supported by molecular data

Zootaxa ◽  
2021 ◽  
Vol 4995 (1) ◽  
pp. 111-128
Author(s):  
LUCIANO DIOTTI ◽  
ROBERTO CALDARA ◽  
IVO TOŠEVSKI
Keyword(s):  
New Species ◽  
Morphological Study ◽  
Host Plants ◽  
Molecular Study ◽  
Morphological Characters ◽  
Molecular Data ◽  
Integrative Taxonomy ◽  
The Other ◽  
Distribution Data ◽  
Two New Species

Two new species of the weevil genus Rhamphus from Italy are herein described: R. bavierai n. sp. (Sicily) and R. hampsicora n. sp. (Sardinia). Both are morphologically and from a molecular perspective close to R. oxyacanthae (Marsham, 1802) and R. monzinii Pesarini & Diotti, 2012. Aside from a diagnostic description and a synoptic key, distribution data and notes on the host plants of the four species are reported. Whereas R. monzinii can be distinguished by several morphological characters, the other three species are morphologically very similar to each other and separable only by the combination of a few subtle characters. On the contrary, a preliminary molecular study revealed substantial divergences of mtCOI from 6.2 to 14.9% between the species, confirming the importance of an integrative taxonomy.  

Monographic revision of the endemic Helix mazzullii De Cristofori & Jan, 1832 complex from Sicily and re-introduction of the genus Erctella Monterosato, 1894 (Pulmonata, Stylommatophora, Helicidae)

Zootaxa ◽  
2011 ◽  
Vol 3134 (1) ◽  
pp. 1 ◽  
Author(s):  
M. STELLA COLOMBA ◽  
ARMANDO GREGORINI ◽  
FABIO LIBERTO ◽  
AGATINO REITANO ◽  
SALVATORE GIGLIO ◽  
...  
Keyword(s):  
Molecular Study ◽  
Molecular Data ◽  
Comprehensive Analysis ◽  
Molecular Dating ◽  
12S Rrna ◽  
Ecological Significance ◽  
Ecological Features ◽  
As Species ◽  
Individual Segment ◽  
Nuclear Its

Helix mazzullii De Cristofori & Jan, 1832 s.l.(Pulmonata, Stylommatophora, Helicidae) is an endemic, rupicolous, saxicavous taxon of northwestern Sicily. Its populations are vulnerable and it is of great ecological significance. However, its taxonomy, phylogeny and biogeography are still uncertain. The present paper reports on a comprehensive analysis of morphological diagnostic characters (shell and genitalia) joined by the molecular study of two mitochondrial (16S rRNA and 12S rRNA) and one nuclear (ITS-2) partial gene sequences, investigated by individual segment analyses or combining the three gene fragments with a concatenate analysis. Our results corroborated the hypothesis that this species is rather a group (i.e., the mazzullii group) including three different taxa (mazzullii, cephalaeditana and insolida) recognized as species. Moreover, molecular dating of lineages suggests that this complex might have occurred long before the Messinian salinity crisis. Finally, peculiar morphological and ecological features along with molecular data strongly support the proposal to re-introduce the genus Erctella Monterosato, 1894 for the H. mazzullii complex. Synonyms and bibliographic references are reported in the systematic part; collection records are listed in Appendix 1.

scholarly journals Phylogenetic position and taxonomy of Cycloseris explanulata and C. wellsi (Scleractinia: Fungiidae): lost mushroom corals find their way home

2012 ◽  
Vol 81 (3) ◽  
pp. 125-146 ◽  
Author(s):  
Francesca Benzoni ◽  
Roberto Arrigoni ◽  
Fabrizio Stefani ◽  
Bastian T. Reijnen ◽  
Simone Montano ◽  
...  
Keyword(s):  
Molecular Study ◽  
Molecular Data ◽  
Phylogenetic Position ◽  
Distribution Data ◽  
Data Sets ◽  
Free Living ◽  
New Findings ◽  
The Family ◽  
Ecological Implications ◽  
History Of

The scleractinian species Psammocora explanulata and Coscinaraea wellsi were originally classified in the family Siderastreidae, but in a recent morpho-molecular study it appeared that they are more closely related to each other and to the Fungiidae than to any siderastreid taxon. A subsequent morpho-molecular study of the Fungiidae provided new insights regarding the phylogenetic relationships within that family. In the present study existing molecular data sets of both families were analyzed jointly with those of new specimens and sequences of P. explanulata and C. wellsi. The results indicate that both species actually belong to the Cycloseris clade within the family Fungiidae. A reappraisal of their morphologic characters based on museum specimens and recently collected material substantiate the molecular results. Consequently, they are renamed Cycloseris explanulata and C. wellsi. They are polystomatous and encrusting like C. mokai, another species recently added to the genus, whereas all Cycloseris species were initially thought to be monostomatous and free-living. In the light of the new findings, the taxonomy and distribution data of C. explanulata and C. wellsi have been updated and revised. Finally, the ecological implications of the evolutionary history of the three encrusting polystomatous Cycloseris species and their free-living monostomatous congeners are discussed.

scholarly journals DGGE Is More Sensitive for the Detection of Somatic Point Mutations than Direct Sequencing

BioTechniques ◽  
1999 ◽  
Vol 27 (2) ◽  
pp. 266-268 ◽  
Author(s):  
Barbara Trülzsch ◽  
Knut Krohn ◽  
Peter Wonerow ◽  
Ralf Paschke
Keyword(s):  
Direct Sequencing ◽  
Point Mutations

scholarly journals Prevalence of Gs alpha mutations in Korean patients with pituitary adenomas

2001 ◽  
Vol 168 (2) ◽  
pp. 221-226 ◽  
Author(s):  
HJ Kim ◽  
MS Kim ◽  
YJ Park ◽  
SW Kim ◽  
DJ Park ◽  
...  
Keyword(s):  
Tumor Size ◽  
Pituitary Adenomas ◽  
Direct Sequencing ◽  
Point Mutations ◽  
Low Frequency ◽  
Oral Glucose ◽  
Fresh Tissue ◽  
Korean Patients ◽  
Gs Alpha ◽  
Non Functioning Pituitary Adenomas

The reported frequencies of Gs alpha mutations (gsp mutations) in growth hormone (GH)-secreting pituitary adenomas are variable (ranging from 4.4 to 43%), and the presence of these mutations in the other pituitary adenomas is still a matter of controversy. Previous clinical and biochemical analyses of patients with GH-secreting pituitary adenomas and gsp mutations produced conflicting results and did not demonstrate obvious characteristics. Therefore, we investigated the prevalence of gsp mutations in Korean patients with pituitary adenomas and elucidated the characteristics of these patients. Forty-four GH-secreting adenomas, 7 prolactin (PRL)-secreting adenomas and 32 clinically non-functioning adenomas were examined for the presence of point mutations in codon 201 and 227 of the Gs alpha gene using a nested PCR and direct sequencing of DNA extracted from fresh tissue or paraffin-embedded pituitary adenoma samples. Seven of the 44 GH-secreting pituitary adenomas had point mutations at codon 201 or 227; of these, five mutations were in codon 201 and two were in codon 227. In patients with gsp mutations, mean tumor size was significantly smaller than in patients without gsp mutations (15.9+/-8.7 mm vs. 24.9+/-14.9 mm, P<0.05). Age, sex, basal GH levels, GH response to oral glucose loading, GH response to octreotide and surgical outcome were not different in the two groups. One of the 32 clinically non-functioning pituitary adenomas had a point mutation at codon 201; none of the seven prolactinomas had these mutations. These results show that gsp mutations are not rare in Korean acromegalic patients and mean tumor size is significantly smaller in acromegalic patients with gsp mutations. Our results also confirm the low frequency of gsp mutations in clinically non-functioning pituitary adenomas and the absence of gsp mutations in prolactinoma.

scholarly journals Novel Point Mutations in the Dihydrofolate Reductase Gene of Plasmodium vivax: Evidence for Sequential Selection by Drug Pressure

2003 ◽  
Vol 47 (5) ◽  
pp. 1514-1521 ◽  
Author(s):  
Mallika Imwong ◽  
Sasithon Pukrittayakamee ◽  
Laurent Rénia ◽  
Franck Letourneur ◽  
Jean-Paul Charlieu ◽  
...  
Keyword(s):  
Dihydrofolate Reductase ◽  
Sequence Data ◽  
Direct Sequencing ◽  
Point Mutations ◽  
Drug Pressure ◽  
Sequential Selection ◽  
Pcr Product ◽  
Reductase Gene ◽  
Antifolate Resistance ◽  
Type Sequence

ABSTRACT Mutations in the dihydrofolate reductase (dhfr) genes of Plasmodium falciparum and P. vivax are associated with resistance to the antifolate antimalarial drugs. P. vivax dhfr sequences were obtained from 55 P. vivax isolates (isolates Belem and Sal 1, which are established lines originating from Latin America, and isolates from patient samples from Thailand [n = 44], India [n = 5], Iran [n = 2], and Madagascar [n = 2]) by direct sequencing of both strands of the purified PCR product and were compared to the P. vivax dhfr sequence from a P. vivax parasite isolated in Pakistan (isolate ARI/Pakistan), considered to represent the wild-type sequence. In total, 144 P. vivax dhfr mutations were found at only 12 positions, of which 4 have not been described previously. An F→L mutation at residue 57 had been observed previously, but a novel codon (TTA) resulted in a mutation in seven of the nine mutated variant sequences. A new mutation at residue 117 resulted in S→T (S→N has been described previously). These two variants are the same as those observed in the P. falciparum dhfr gene at residue 108, where they are associated with different levels of antifolate resistance. Two novel mutations, I→L at residue 13 and T→M at residue 61, appear to be unique to P. vivax. The clinical, epidemiological, and sequence data suggest a sequential pathway for the acquisition of the P. vivax dhfr mutations. Mutations at residues 117 and 58 arise first when drug pressure is applied. Highly mutated genes carry the S→T rather than the S→N mutation at residue 117. Mutations at residues 57 and 61 then occur, followed by a fifth mutation at residue 13.

Morphological and molecular study of the torrent catfishes (Sisoridae: Glyptosterninae) of Bhutan including the description of five new species

Zootaxa ◽  
2018 ◽  
Vol 4476 (1) ◽  
pp. 40
Author(s):  
RYAN J. THONI ◽  
DHAN B. GURUNG
Keyword(s):  
New Species ◽  
Mitochondrial Gene ◽  
Nuclear Gene ◽  
Molecular Study ◽  
Molecular Data ◽  
Cyt B ◽  
Dichotomous Key ◽  
Morphological And Molecular Data

Torrent catfishes of the subfamily Glyptosterninae from Bhutan are examined based on morphological and molecular data. Five new species are described: Creteuchiloglanis bumdelingensis sp. nov., Exostoma mangdechhuensis sp. nov., Parachiloglanis benjii sp. nov., P. dangmechhuensis sp. nov., and P. drukyulensis sp. nov. Molecular data derived from the mitochondrial gene Cyt b and the nuclear gene RAG2 recovered relationships within Parachiloglanis and the Glyptosterninae. A dichotomous key to the Glyptosterninae of Bhutan is provided.

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