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Biomedical subjects

V A Mglinets

Publications and source records attributed to V A Mglinets.

At least 19 recordsLinked to original sources

[Regulation of face and limb development: genetic aspects].

The review presents recent and earlier data on genetic regulation of different morphogenetic events in diverse organisms, mainly human, murine, avian and Drosophila ones. Without repeating the numerous names of genes in these organisms, one may summarize that the sets of genes involved in the regulation of development of facial and limbal structures in different organisms are rather similar, at least overlapping to a considerable degree.

Animals↗

[Study of CATCH 22: genetic aspects].

Introducing molecular genetic techniques into clinical practice has made it possible to detect del 22q11.2, an etiological factor for congenital cardiovascular diseases in CATCH 22. The authors' complex (clinical, syndromological, molecular genetic, and computed) approach to examining this group of syndromes has enabled patients at high risk for CATCH 22 to be identified. A list of gene candidates responsible for manifestations of CATCH 22 and data on how pathological phenotypes are developing in model objects are presented.

Abnormalities, Multiple↗

[Gene expression specific for heart atria and ventricles].

The data on the chamber-specific expression of cardiac genes in the animal and human heart are reviewed. The positional specification of atrial and ventricular gene expression observed in adults is initiated early during embryogenesis. The existence of a cascade of genes is assumed, beginning with genes whose products form an anterior-posterior gradient along the heart-forming regions or along the linear heart tube derived from these regions, and ending with genes that encode the contractile proteins and display chamber-specific expression.

Adult↗

[Genomic imprinting and its role in Prader-Willi and Angelman syndromes].

Published and our own data, included in the CHRODYS database, on the dependence of phenotypic abnormalities in mono-, di-, and trisomics at human chromosome 15 on its parental origin are reviewed. The concept is confirmed that Prader-Willi and Angelman syndromes result from the combined effect of gene or chromosome mutations impairing the expression of syndrome-specific genes and from genomic imprinting, i.e., repression of corresponding genes received from one of the parents.

Angelman Syndrome↗

[Hand dermatoglyphics in patients with isolated triphalangia and Holt-Oram syndrome].

A comparative analysis of dermatoglyphic prints of patients with the Holt-Oram syndrome and isolated triphalangeal thumbs was performed with control dermatoglyphics. A specific feature of the syndrome is a change in the main palmar lines and their termination on the radial border of the hand not only in the absence of the thumb but also in the case of formation of the abortive xT-line, its radiants, and the axial triradius. This trait may be considered diagnostic for the Holt-Oram syndrome. Cases of triphalangeal thumbs with preaxial polydactyly do not reveal significant changes in dermatoglyphic patterns and appear to result from partial duplication of the thumb. An isolated triphalangeal thumb may be the result of an atavistic development of homeotic transformation of the thumb.

Dermatoglyphics↗

[Genetic control of segmentation processes in axial structures in vertebrates].

The processes of segmentation of axial structures in vertebrates during early embryonic development are reviewed. These processes include the formation of neuromeres, somitomeres, cranial ganglia, and branchial arches in the head and of neuromeres, somites, spinal ganglia, and motor nerves in the body of the embryo. The class of vertebrate homeobox genes Hox is described with respect to the arrangement of these genes in four clusters, the structural and functional similarity of paralogues in gene subfamilies, and the type of Hox gene expression in the head and body. A hypothesis concerning the existence of a genetic Hox code, determining the fate of individual segments in neuroectodermal and mesenchymal derivatives, is discussed. In the context of this hypothesis, phenotypic expression of the mutant Hox genes, accompanied by the loss of their function and cases of excessive and ectopic expression of Hox genes, are analyzed. Only in such cases do mutant phenotypes demonstrate symptoms of actual homeotic transformation, in which specific segmental structures are substituted by their homologues, as has been described for homeotic mutations in Drosophila.

Animals↗

[Genetic regulation of limb development in vertebrates].

The data are surveyed concerning formation of limb buds in Vertebrate, development of morphogenetic fields in limb buds, their organization based on the simple gradient model and the model of polar coordinates. Formation of the morphogenetic fields of strictly located events, such as chondrogenesis and prescheduled cell death, based on the positional information is discussed. All the stages of limb formation in Vertebrate are under genetic control, the products of some genes behaving as extracellular factors (morphogens) and those of other as cell receptors or transcriptional factors inducing activity of specific gene sets. Highly important at that are regulatory homeobox genes.

Animals↗

[Dermatoglyphic changes in some human hereditary disorders: syndactyly].

The dermatoglyphic hand prints from 19 patients with different types of syndactyly were analysed. It was shown that some digital triradii and palmar lines were missing and replaced by only one triradius with common radiants and one main palmar line in patients with syndactyly. With fingers fused incompletely so called zygodactylous triradius and the main Z line may appear, instead of or alongside with them. It is proposed that the position of local cell death in the interdigital spaces is determined by positional information which is expressed in the system of polar coordinates.

Dermatoglyphics↗

[Disorders of finger flexion crease formation in various congenital anomalies of human development].

Deviations in finger flexion crease formation and ridge counts were analysed in normal and deformed (Down syndrome, arthrogriposis, diastrophic dysplasia) hands. Certain interrelation was found between decrease in the ridge count and the number of the finger flexion creases in Down syndrome. The changes observed agree with the hypothesis that intersegmental borders, and later, the joints and finger flexion creases are laid out on the basis of the positional information which is directed by morphogenetic gradients. This model enables us to interpret more or less unequivocally the changes in flexion creases in patients with arthrogriposis and diastrophic dysplasia (dwarfism).

Arthrogryposis↗

[Relationship between finger length and ridge count in patients with Marfan syndrome].

Palmar dermatoglyphs were studied in 38 patients with lens dislocation. The patients were distributed into three groups: Marfan syndrome, mild Marfan syndrome, isolated lens dislocation. Marked arachnodacytyly was observed in the first group. In these patients increase in finger length was positively correlated with the ridge count. Moderate increase in finger length and ridge count was observed in the second group. The relative finger length was lower in patients with isolated lens dislocation than in unaffected persons, though the ridge count did not differ from the control. The relations noted between the finger length and ridge count in Marfan syndrome are in agreement with the suggestion that these two parameters are determined by common cause, namely, the morphogenetic gradient in digital primordia.

Dermatoglyphics↗

[Relationship between dermatoglyphic variability and finger length in genetic disorders: Down's syndrome].

Palmar and digital dermatoglyphics were compared in Down's syndrome patients with that in a control sample from a population. All dermatoglyphic changes characteristic of Down's syndrome were confirmed. The ridge counts along digital midlines were significantly lower in Down patients as compared to control data, especially, in little fingers, which corresponds to finger shortening in Down's syndrome. The findings agree with a suggestion that digital growth in man could be controlled by morphogenetic gradients which may be altered in genetic disorders.

Dermatoglyphics↗

[Time of gene activity during drosophila ontogenesis. III. Temperature-sensitive period of the homeotic mutation nasobemia].

The temperature-sensitive period (TSP) was determined for the homoeotic mutation Nasobemia which causes the antenna to leg transformation in D. melanogaster. The rate of homoetic transformation was measured in the adult flies which emerged after the temperature shift from 29 to 17 degrees and vice versa applied at different larval stages. The TSP begins at 29 degrees at 63 hrs and ends at 39 hrs prior to the pupation, while at 17 degrees it begins at 216 hrs and ends at 132 hrs prior to the pupation. This means that the end of the 1 st larval instar and practically all the 2nd instar are temperature sensitive. A suggestion is put forward to the effect that the TSP corresponds to the period during which the process of abnormal determination of the imaginal disc cells takes place.

Animals↗

[Time of gene activity in ontogenesis of Drosophila. 2. Temperature-sensitive period of SSa-40a mutation in Drosophila melanogaster].

In the mutants aristapedia (ssa-40a) of D. melanogaster, the temperature-sensitive period (TSP) was determined for the effects observed in the thoracic legs (fusion of tarsal segments). The TSP began in the middle of the first and finished in the end of the second quarter of the 3rd larval instar. The TSP for ssa-40a overlapped the TSP for homoeotic transformation of aristae into tarsi but did not overlap the TSP for spineless effects. An attempt is undertaken to consider the state of determinantion on the basis of the hypothesis of autogenous regulation of gene activity.

Alleles↗

[Characteristics of the scutellar bristle pattern in Drosophila melanogaster mutants al, h and al; h].

The object of this study was the distribution of macrochaetae and microchaetae on the scutellum of Drosophila melanogaster in wild-type individuals and in three mutant genotypes: h/h, al/al and al; h/al; h. The mutation h (hairy) causes the appearance on the scutellum of extra microchaetae with a definite distribution pattern. The mutation al (aristaless) changes the size and the shape of scutellum and causes the shift of the posterior scutellar bristles. It is shown by the study of double homozygotes al; h/al; h, that this bristle can be shifted into the region occupied by one of microchaetae. The results obtained are considered in the light of the prepattern hypothesis. An assumption is made about the possible three-component constitution of the system of pattern formation.

Animals↗

[Effect of temperature on homoeotic mutation expression in Drosophila. I. Homoeotic transformation in Proboscipedia mutants].

It is generally adopted that the homoeotic gene proboscipedia causes the transformation of the distal parts of proboscis into corresponding tarsal or antennal (aristal) segments. It is shown that actually the homoeotic effect of the mutation proboscipedia consists in the transformation of the oral lobes of proboscis into a whole prothoracic leg. Sometimes the distal parts of the homoeotic leg (segments of tarsus, claws) can coexist with or be substituted for by the aristal filaments. The transformation of oral lobes of proboscic into the leg is most conspicuous at 29 degrees C, while at 16 degrees C the substitution of tarsal structures by aristal ones is observed more frequently. The homology between the corresponding elements of the proboscis, legs and antenna (as revealed by the pattern of homoeosis) is discussed.

Animals↗

[Active period of genes during Drosophila ontogenesis. I. Temperature-sensitive period for the spineless effect in aristapedia mutants].

The temperature-sensitive period (TSP) was determined for the spineless effect (bristle shortening) in SSa40a mutant of Drosophila melanogaster. The length of front orbital and front vertical bristles was measured at different intervals after the temperature shift from 29 to 17 degrees and vice versa. The TSP was found to last from 7 to 14 hrs during pupal development. This corresponds to the activity of the spineless-aristapedia locus during the period of isolation of bristle initial cells. The discordance between the TSP of spineless effect and that of homoeotic effect of the same gene suggests that the locus SSa40a is activated twice during development.

Alleles↗