scholarly journals The Organization of Pericentromeric Heterochromatin in Polytene Chromosome 3 of the Drosophila melanogaster Line with the Rif11; SuURES Su(var)3-906 Mutations Suppressing Underreplication

Cells ◽  
2021 ◽  
Vol 10 (11) ◽  
pp. 2809
Author(s):  
Tatyana Zykova ◽  
Mariya Maltseva ◽  
Fedor Goncharov ◽  
Lidia Boldyreva ◽  
Galina Pokholkova ◽  
...  

Although heterochromatin makes up 40% of the Drosophila melanogaster genome, its organization remains little explored, especially in polytene chromosomes, as it is virtually not represented in them due to underreplication. Two all-new approaches were used in this work: (i) with the use of a newly synthesized Drosophila line that carries three mutations, Rif11, SuURESand Su(var)3-906, suppressing the underreplication of heterochromatic regions, we obtained their fullest representation in polytene chromosomes and described their structure; (ii) 20 DNA fragments with known positions on the physical map as well as molecular genetic features of the genome (gene density, histone marks, heterochromatin proteins, origin recognition complex proteins, replication timing sites and satellite DNAs) were mapped in the newly polytenized heterochromatin using FISH and bioinformatics data. The borders of the heterochromatic regions and variations in their positions on arm 3L have been determined for the first time. The newly polytenized heterochromatic material exhibits two main types of morphology: a banding pattern (locations of genes and short satellites) and reticular chromatin (locations of large blocks of satellite DNA). The locations of the banding and reticular polytene heterochromatin was determined on the physical map.

PLoS ONE ◽  
2018 ◽  
Vol 13 (4) ◽  
pp. e0192634 ◽  
Author(s):  
Galina V. Pokholkova ◽  
Sergei A. Demakov ◽  
Oleg V. Andreenkov ◽  
Natalia G. Andreenkova ◽  
Elena I. Volkova ◽  
...  

Genetics ◽  
2000 ◽  
Vol 155 (3) ◽  
pp. 1175-1183
Author(s):  
John Locke ◽  
Lynn Podemski ◽  
Nicole Aippersbach ◽  
Hilary Kemp ◽  
Ross Hodgetts

Abstract Chromosome 4, the smallest autosome (~5 Mb in length) in Drosophila melanogaster contains two major regions. The centromeric domain (~4 Mb) is heterochromatic and consists primarily of short, satellite repeats. The remaining ~1.2 Mb, which constitutes the banded region (101E–102F) on salivary gland polytene chromosomes and contains the identified genes, is the region mapped in this study. Chromosome walking was hindered by the abundance of moderately repeated sequences dispersed along the chromosome, so we used many entry points to recover overlapping cosmid and BAC clones. In situ hybridization of probes from the two ends of the map to polytene chromosomes confirmed that the cloned region had spanned the 101E–102F interval. Our BAC clones comprised three contigs; one gap was positioned distally in 102EF and the other was located proximally at 102B. Twenty-three genes, representing about half of our revised estimate of the total number of genes on chromosome 4, were positioned on the BAC contigs. A minimal tiling set of the clones we have mapped will facilitate both the assembly of the DNA sequence of the chromosome and a functional analysis of its genes.


2001 ◽  
Vol 11 (6) ◽  
pp. 1100-1113
Author(s):  
Roger A. Hoskins ◽  
Alexander C. Phan ◽  
Mohammed Naeemuddin ◽  
Felipa A. Mapa ◽  
David A. Ruddy ◽  
...  

For nearly a century, genetic analysis in Drosophila melanogaster has been a powerful tool for analyzing gene function, yet Drosophila lacks the molecular genetic mapping tools that recently have revolutionized human, mouse, and plant genetics. Here, we describe the systematic characterization of a dense set of molecular markers in Drosophila by using a sequence tagged site-based physical map of the genome. We identify 474 biallelic markers in standard laboratory strains of Drosophila that span the genome. Most of these markers are single nucleotide polymorphisms and sequences for these variants are provided in an accessible format. The average density of the new markers is one per 225 kb on the autosomes and one per megabase on the X chromosome. We include in this survey a set of P-element strains that provide additional use for high-resolution mapping. We show one application of the new markers in a simple set of crosses to map a mutation in the hedgehog gene to an interval of <1 Mb. This new map resource significantly increases the efficiency and resolution of recombination mapping and will be of immediate value to the Drosophila research community.


Genetics ◽  
1986 ◽  
Vol 112 (2) ◽  
pp. 321-342
Author(s):  
Eugene M Rinchik ◽  
Liane B Russell ◽  
Neal G Copeland ◽  
Nancy A Jenkins

ABSTRACT Genes of the dilute-short ear (d-se) region of mouse chromosome 9 comprise an array of loci important to the normal development of the animal. Over 200 spontaneous, chemically induced and radiation-induced mutations at these loci have been identified, making it one of the most genetically well-characterized regions of the mouse. Molecular analysis of this region has recently become feasible by the identification of a dilute mutation that was induced by integration of an ecotropic murine leukemia virus genome. Several unique sequence cellular DNA probes flanking this provirus have now been identified and used to investigate the organization of wild-type chromosomes and chromosomes with radiation-induced d-se region mutations. As expected, several of these mutations are associated with deletions, and, in general, the molecular and genetic complementation maps of these mutants are concordant. Furthermore, a deletion break-point fusion fragment has been identified and has been used to orient the physical map of the d-se region with respect to the genetic complementation map. These experiments provide important initial steps for analyzing this developmentally important region at the molecular level, as well as for studying in detail how a diverse group of mutagens acts on the mammalian germline.


Genetics ◽  
1996 ◽  
Vol 144 (1) ◽  
pp. 197-204
Author(s):  
Christine Hoogland ◽  
Christian Biémont

Abstract Data of insertion site localization and site occupancy frequency of P, hobo, I, copia, mdg1, mdg3, 412, 297, and roo transposable elements (TEs) on the polytene chromosomes of Drosophila melanogaster were extracted from the literature. We show that TE insertion site number per chromosomal division was significantly correlated with the amount of DNA. The insertion site number weighted by DNA content was not correlated with recombination rate for all TEs except hobo, for which a positive correlation was detected. No global tendency emerged in the relationship between TE site occupancy frequency, weighted by DNA content, and recombination rate; a strong negative correlation was, however, found for the 3L arm. A possible dominant deleterious effect of chromosomal rearrangements due to recombination between TE insertions is thus not the main factor explaining the dynamics of TEs, since this hypothesis implies a negative relationship between recombination rate and both TE insertion site number and site occupancy frequency. The alternative hypothesis of selection against deleterious effects of insertional mutations is discussed.


2010 ◽  
Vol 20 (9-10) ◽  
pp. 626
Author(s):  
A. D’Amico ◽  
S. Petrini ◽  
F. Fattori ◽  
M. Verardo ◽  
R. Boldrini ◽  
...  

Chromosoma ◽  
1981 ◽  
Vol 82 (2) ◽  
pp. 205-216 ◽  
Author(s):  
F. Scalenghe ◽  
E. Turco ◽  
J. E. Edström ◽  
V. Pirrotta ◽  
M. Melli

Nematology ◽  
2018 ◽  
Vol 20 (3) ◽  
pp. 285-297 ◽  
Author(s):  
Elena Ivanova ◽  
Ksenia Perfilieva ◽  
Sergei Spiridonov

A new nematode species recovered from the laboratory culture ofDrosophila melanogasteris described and illustrated. The mass reproduction ofPanagrellus levitatussp. n. in the fly culture occurred several times and resulted in a significant reduction of the fly population. Nematode outbreaks happened after the introduction ofD. melanogasterto the culture from natural sources. The new species is morphologically similar toP. ulmi. Partial LSU rDNA and SSU rDNA sequences were obtained and subjected to phylogenetic analysis that demonstrated the affinity of the new species withPanagrellussp. ‘MC2014’ from a red palm weevil. For the first time, the dauer juveniles ofPanagrelluswere described.


2021 ◽  
Vol 55 (2) ◽  
pp. 487-494
Author(s):  
A. D. Potemkin ◽  
A. A. Vilnet ◽  
E. I. Troeva ◽  
K. A. Ermokhina

Gymnocolea borealis is reported for the first time for Asia from Russia based on the morphological and subsequent molecular-genetic comparison of rbcL cpDNA sequence of the specimen from the Gydansky Peninsula, West Siberian Arctic. An extended morphological description, generalizing the species characters throughout its range, and data on its variation, differentiation and ecology, and photomicrographs are provided. The occurrence of G. borealis growing as separate shoots among dense mire vegetation makes it easy to overlook. Presently known isolated records of G. borealis support its disjunctive circumpolar distribution.


Author(s):  
М.Д. Орлова ◽  
П. Гундорова ◽  
А.В. Поляков

Синдром Барде-Бидля - аутосомно-рецессивное заболевание, характеризующееся ожирением, пигментной дегенерацией сетчатки, полидактилией, задержкой психоречевого развития и структурными повреждениями почек. В работе представлены результаты применения МПС-панели, включающей кодирующие последовательности и прилегающие интронные области 21 гена, ассоциированного с синдромом Барде-Бидля. Впервые была проведена молекулярно-генетическая диагностика в группе из сорока российских пациентов с синдромом Барде-Бидля из неродственных семей. В результате исследования удалось подтвердить диагноз молекулярно-генетическим методом у 40% пациентов (n=16). В генах BBS1, BBS7 и BBS10 встретились повторяющиеся варианты. Частота встречаемости патогенных и вероятно патогенных вариантов в генах BBS1 и BBS10 у российских пациентов соответствует зарубежным данным. Варианты в гене BBS7 встретились у пяти человек, у четырех из них был обнаружен патогенный вариант c.1967_1968delTAinsC, не встречающийся в других популяциях. Результаты, представленные в статье, показывают значительный вклад в заболеваемость синдромом Барде-Бидля в российской популяции патогенных вариантов в гене BBS7. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by obesity, retinitis pigmentosa, polydactyly, development delay, and structural kidney defects. This study shows the results of using an MPS panel that includes coding sequences and intronic areas of 21 genes associated with Bardet-Biedl syndrome. For the first time molecular genetic testing has been provided for the group of 40 Russian patiens with Bardet-Biedl syndrome from unrelated families. As a result of the testing, diagnoses were confirmed for 40% of the patients (n=16). The genes BBS1, BBS7, BBS10 had recurrent variants. The frequency of pathogenic and likely pathogenic variants in the genes BBS1 and BBS10 among Russian patients matches the research data in other countries. Variants in the BBS7 gene were found for five people, four of them had a pathogenic variant c.1967_1968delTAinsC, which is not present among other populations. Results provided in this article show the significant role of pathogenic variants in the BBS7 gene in patients with Bardet-Biedl syndrome in Russian population.


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