Cross-species hybridizations in situ for identification of Robertsonian translocation in wild boar

2017 ◽  
Vol 56 (1) ◽  
pp. 15-21
Author(s):  
MAREK BABICZ ◽  
BARBARA DANIELAK-CZECH ◽  
ANNA KOZUBSKA-SOBOCIŃSKA
Keyword(s):  
Wild Boar ◽  
Robertsonian Translocation

scholarly journals The influence of the Robertsonian translocation Rb(X.2)2Ad on anaphase I non-disjunction in male laboratory mice

1989 ◽  
Vol 53 (2) ◽  
pp. 77-86 ◽  
Author(s):  
I.-D. Adler ◽  
R. Johannisson ◽  
H. Winking
Keyword(s):  
Sex Chromosomes ◽  
Robertsonian Translocation ◽  
Sex Chromosome ◽  
Light And Electron Microscopy ◽  
Normal Karyotype ◽  
Chromosome 2 ◽  
Male Genome ◽  
The Difference ◽  
Normal Pairing

SummaryA Robertsonian translocation in the mouse between theXchromosome and chromosome 2 is described. The male and female carriers of the Rb(X.2)2Ad were fertile. A homozygous/hemizygous line was maintained. The influence of theX-autosomal Robertsonian translocation on anaphase I non-disjunction in male mice was studied by chromosome counts in cells at metaphase II of meoisis and by assessment of aneuploid progeny. The results conclusively show that the inclusion of Rb2Ad in the male genome induces non-disjunction at the first meoitic division. In second metaphase cells the frequency of sex-chromosomal aneuploidy was 10·8%, and secondary spermatocytes containing two or no sex chromosome were equally frequent. The Rb2Ad males sired 3·9% sex-chromosome aneuploid progeny. The difference in aneuploidy frequencies in the germ cells and among the progeny suggests that the viability of XO and XXY individuals is reduced. The pairing configurations of chromosomes 2, Rb2Ad andYwere studied during meiotic prophase by light and electron microscopy. Trivalent pairing was seen in all well spread nuclei. Complete pairing of the acrocentric autosome 2 with the corresponding segment of the Rb2Ad chromosome was only seen in 3·2% of the cells analysed in the electron microscope. The pairing between theXand theYchromosome in the Rb2Ad males corresponded to that in males with normal karyotype. Reasons for sex-chromosomal non-disjunction despite the normal pairing pattern between the sex chromosomes may be seen in the terminal chiasma location coupled with the asynchronous separation of the sex chromosomes and the autosomes. The Rb2Ad chromosome can be useful for studies ofXinactivation, as a marker for parental derivation of theXchromosome and for mapping loci byin situhybridization.

scholarly journals Analysis of meiotic segregation patterns and interchromosomal effects in sperm from 13 robertsonian translocations

2017 ◽  
Vol 20 (1) ◽  
pp. 43-50 ◽  
Author(s):  
B Wang ◽  
B Nie ◽  
D Tang ◽  
R Li ◽  
X Liu ◽  
...  
Keyword(s):  
Robertsonian Translocation ◽  
Sex Chromosome ◽  
Chromosome Rearrangement ◽  
Chromosome 18 ◽  
Robertsonian Translocations ◽  
Increased Risk ◽  
Male Patients ◽  
Male Carriers ◽  
Unusual Type

Abstract The frequency of the Robertonian (ROB) translocation in newborn babies is approximately one in 1000. Robertsonian translocation is an unusual type of chromosome rearrangement caused by two particular chromosomes joining together. The aim of the study was to analyze the segregation of the ROB translocations in 13 male carriers, and to verify a possible inter-chromosomal effect (ICE) of the ROB translocation on chromosomes 18, X, and Y. Thirteen male patients were included in the study. Multicolor fluorescent in situ hybridization (FISH) was used to analyze chromosomes 13, 14, 15, 21, 22, 18, X and Y in sperm. Among the heterozygous ROB translocation carriers, the frequency of normal/balanced spermatozoa resulting from alternate segregation varied between 70.4 and 85.2%. The frequency of unbalanced spermatozoa resulting from adjacent segregation varied between 14.8 and 29.6%. Increased frequencies of aneuploidy for a sex chromosome were found in 10 ROB translocation carriers (P2-P8, P10-P12). Increased frequencies of aneuploidy for chromosome 18 were found in10 ROB translocation carriers (P3-P9, P11-P13). In addition, increased frequencies of diploid were found in 11 ROB translocation carriers (P2-P9, P11-P13). Among the homozygous ROB translocation carriers, the rate of balanced spermatozoa was 99.7% and the frequency of unbalanced spermatozoa was 0.3%. However, the frequencies of aneuploidy for a sex chromosome and chromosome 18 were normal. Despite the high number of normal/balanced frequencies, there remained many unbalanced spermatozoa resulting from alternate segregation. The ROB translocation carriers may be at an increased risk for ICE. Robertsonian translocation homozygosity could be seen as a potential speciation in humans with 44 chromosomes.

scholarly journals Maternal Uniparental Disomy for Chromosome 14

1996 ◽  
Vol 45 (1-2) ◽  
pp. 169-172 ◽  
Author(s):  
D.A. Coviello ◽  
E. Panucci ◽  
M.M. Mantero ◽  
C. Perfumo ◽  
M. Guelfi ◽  
...  
Keyword(s):  
Robertsonian Translocation ◽  
De Novo ◽  
Clinical Phenotype ◽  
Uniparental Disomy ◽  
Chromosome 14 ◽  
Motor Delay ◽  
Maternal Uniparental Disomy ◽  
Severe Scoliosis ◽  
Severe Hypotonia

AbstractA girl carrying a de novo balanced 13-14 robertsonian translocation showed a clinical phenotype with severe hypotonia, hyperextensible joints, frontal bossing, asymmetric face, no mental retardation, severe scoliosis and motor delay. In situ hybridization analysis on chromosome spreads revealed the presence of the two centromeres in the rearranged chromosomes. Molecular analysis on genomic DNA showed the presence in the proposita of two chromosomes 14 of maternal origin and no chromosome 14 from the father indicating a maternal monocentric uniparental disomy for chromosome 14 (mUPD14). Our patient shows several similarities with other reported cases of mUPD14, suggesting imprinting of a region(s) of chromosome 14 and defining a possible mUPD14 Syndrome.

Improvement of the agronomic traits of a wheat–barley centric fusion by introgressing the 3HS.3BL translocation into a modern wheat cultivar

Genome ◽  
2014 ◽  
Vol 57 (11/12) ◽  
pp. 601-607 ◽  
Author(s):  
Edina Türkösi ◽  
András Farkas ◽  
Nikolett Réka Aranyi ◽  
Borbála Hoffmann ◽  
Viola Tóth ◽  
...  
Keyword(s):  
In Situ Hybridization ◽  
Repetitive Dna ◽  
Robertsonian Translocation ◽  
Field Experiments ◽  
Agronomic Traits ◽  
Wheat Cultivar ◽  
Centric Fusion ◽  
Dna Probes ◽  
Modern Wheat

The 3HS.3BL spontaneous Robertsonian translocation obtained from the progenies of wheat–barley (Chinese Spring × Betzes) hybrids backcrossed with wheat line Mv9kr1 was transferred into the modern Martonvásár wheat cultivar Mv Bodri. The translocation was identified with molecular cytogenetic methods. The inheritance of the translocation was traced using genomic in situ hybridization. Fluorescence in situ hybridization using barley subtelomeric (HvT01) and centromere-specific [(AGGGAG)4] repetitive DNA probes confirmed that the complete barley chromosome arm was involved in the Robertsonian translocation. The wheat-specific repetitive DNA probes identified the presence of the whole wheat genome, except the short arm of the 3B chromosome. Genotypes homozygous for the centric fusion were selected, after which morphological analysis was performed on the plants and the yield components were measured in the field during two consecutive vegetative seasons. The introgression of the 3HS.3BL translocation into the modern wheat cultivar Mv Bodri significantly reduced the plant height due to the incorporation of the dwarfing allele RhtD1b. The presence of the 3HS.3BL translocation in the Mv9kr1 and Mv Bodri wheat background improved tillering and seeds per plant productivity in field experiments carried out in Martonvásár and Keszthely, Hungary.

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