Search results for "CHROMOSOME"

Chromosome analysis using different staining techniques and fluorescent in situ hybridization in Cerithium vulgatum (Gastropoda: Cerithiidae)

2002

In the present paper one population of the “large” subtidal mollusc Cerithium vulgatum Bruguiere, 1792 (Gastropoda: Cerithiidae) from the Northwestern coast of Sicily was investigated from a karyological point of view. The chromosome complement was Giemsa stained, conventionally karyotyped in 18 homomorphic chromosome pairs (10 bi-armed and 8 mono-armed), and subsequently analysed using silver, CMA3 and DAPI staining, and fluorescent in situ hybridization (FISH) with three repetitive DNA probes [ribosomal DNA (rDNA), (TTAGGG)n and (GATA)n]. FISH with the rDNA probe consistently mapped major ribosomal sites (18S-28S rDNA) in the terminal region of the short arms of one small sized mono-armed…

Association Study of Genetic Variants in the 14q11 - 14q13 Proteasomal Genes Cluster with Juvenile Idiopathic Arthritis (JIA) in Latvian Population

2009

Association Study of Genetic Variants in the 14q11 - 14q13 Proteasomal Genes Cluster with Juvenile Idiopathic Arthritis (JIA) in Latvian Population The possible role of proteasomes in the development of autoimmune diseases was hypothesised after discovery of the involvement of proteasomal LMP2 and LMP7 subunits in antigene processing. The objective of this study was to determine the association between allelic variants of the genes encoding proteasomal proteins PSME1, PSME2 and PSMA6 and juvenile idiopathic arthritis (JIA) in the Latvian population. One Indel G-4543 CA-4544 →GA and four SNPs related to the PSMA6 gene (A-2486 →G and C-1910 →T, upstream promoter, C-110 →A of promoter, and C-8…

Trisomy 12 and translocation (7;9) in an ovarian immature teratoma.

1989

We report a case of an immature malignant ovarian teratoma with peritoneal implants diagnosed in an 18-year-old woman. The tumor was brought into remission after surgery (three laparotomies) and adjuvant chemotherapy. A residual peritoneal implant showed a mature epithelial and glial configuration. Histologically, the neuroectodermal component was dominant in the original tumor as well as in the metastases, being confirmed by immunohistochemistry and electron microscopy. A stem cell line has been obtained with cell culture, having a germ cell character and a yolk sac configuration. This line possessed a trisomy 12 and a translocation (7;9) similar to other chromosomal abnormalities describe…

Intrachromosomal Telomeric Sequences Distribution in Ceboidea Can Reveal Insights into the Chromosomal Evolution in New World Primates

2015

WILLIAMS-BEUREN MAPPING IN CALLITHRIX ARGENTATA, CALLICEBUS CUPREUS AND ALOUATTA CARAYA INDICATES DIFFERENT PATTERNS OF CHROMOSOMAL REARRANGEMENTS IN…

2007

Human chromosome 7 has a complex syntenic origin. It was divided into two segments in both the ancestral primate karyotype and in Platyrrhini. Apparently, a small segment in the ancestral platyrrhine karyotype was associated with HSA5 and the remainder formed a middle-sized submetacentric. We tested the dynamics of platyrrhine chromosomes by hybridizing the locus specific Willams-Beuren probe (7q 11.23, 450 kb) to chromosomes of representative species from the three families of the New World monkeys recently proposed by molecular genomics: Cebidae, Callithrix argentata (bare ear marmoset or silvery marmoset, 2n = 44); Pitheciidae, Callicebus cupreus [red titi monkey, or coppery monkey, 2n =…

Molecular Cytogenetics as a Tool for Primate Taxonomic identification: A Case Study in Captivity

2015

caratteristiche peculiari essendo notturne e monogame. Hanno un’ampia distribuzione geografica che si estende dallo stretto di Panama al nord dell’Argentina; questo determina una notevole complessità nella distribuzione e di conseguenza nell’interpretazione sistematica e filogenetica. Lo studio del genere Aotus mediante l’analisi di caratte ri morfologici e genetici ha prodotto una tassonomia controversa. Inizialmente era riconosciuta solo la specie Aotus trivirgatus, successivamente in base alla colorazione del pelo del collo, alla diversa suscettibilità alla malaria e ai dati citogenetici sono state identificate fino a nove specie, oltre a due sibling species, per un totale di 11.1,2 Il n…

Interstitial Telomeric-like Repeats (ITR) in Seed Plants as Assessed by Molecular Cytogenetic Techniques: A Review.

2021

The discovery of telomeric repeats in interstitial regions of plant chromosomes (ITRs) through molecular cytogenetic techniques was achieved several decades ago. However, the information is scattered and has not been critically evaluated from an evolutionary perspective. Based on the analysis of currently available data, it is shown that ITRs are widespread in major evolutionary lineages sampled. However, their presence has been detected in only 45.6% of the analysed families, 26.7% of the sampled genera, and in 23.8% of the studied species. The number of ITR sites greatly varies among congeneric species and higher taxonomic units, and range from one to 72 signals. ITR signals mostly occurs…

The distributions of protein coding genes within chromatin domains in relation to human disease.

2019

Abstract Background Our understanding of the nuclear chromatin structure has increased hugely during the last years mainly as a consequence of the advances in chromatin conformation capture methods like Hi-C. The unprecedented resolution of genome-wide interaction maps shows functional consequences that extend the initial thought of an efficient DNA packaging mechanism: gene regulation, DNA repair, chromosomal translocations and evolutionary rearrangements seem to be only the peak of the iceberg. One key concept emerging from this research is the topologically associating domains (TADs) whose functional role in gene regulation and their association with disease is not fully untangled. Resul…

Aneiploīdija, dzimumhromosomu izmaiņas un mejotisko gēnu ekspresija vīriešu ļaundabīgajos audzējos: Iespējamā mejotiskā izcelsme

2017

Novērots, ka vairākos vēža tipos DNS sadalījums para-triploīdajā diapazonā (ap 69 hromosomām) ir bieži saistīts ar lielāku ļaundabīgumu, paaugstinātu rezistenci pret ķīmijterapiju un nelabvēlīgu prognozi pacientam. Šobrīd vadošā teorija uzskata, ka triploīdās vēža šūnas veidojas no tetraploīdajām nejaušo anomālo mitožu sērijas rezultātā. Tomēr jaunākie novērojumi liecina, ka triploīdijas rašanās var nebūt pilnīgi nejauša un ka tā varētu būt iesaistīta vēža attīstības svarīgākajās stadijās. Sakarā ar jaunākajiem novērojumiem par to, kādu lomu spēlē vēža cilmes šūnas audzēju pašatjaunošanās procesā, zinātnieki sāka atkārtoti pievērsties 19. gadsimta teorijai, kura uzskata, ka vēža šūnu evolūc…

Fine Mapping of Gene Ordering by Elongated Chromosome Methods

2006

Publisher Summary Fluorescence in situ hybridization (FISH) can be used to localize specific DNA sequences on metaphase chromosomes, interphase nuclei, and experimentally extended DNA or chromatin fibers. Depending on the hybridization target, FISH techniques show widely different levels of DNA resolution. Mechanically stretched or elongated chromosomes fill the resolution gap between metaphase FISH and fiber FISH, allowing the rapid and straightforward ordering and localization of clones along the length of an entire chromosome with a 100- to 200-kb resolution. Although various genome projects have provided very high-resolution physical maps of human and important animal genomes, FISH is s…