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Repetitive elements are the main components of many plant genomes and play a crucial role in the variation of genome size and structure, ultimately impacting species diversification and adaptation. Alstroemeriaceae exhibits species with large genomes, not attributed to polyploidy. In this study, we analysed the repetitive fraction of the genome of Bomarea edulis through low-coverage sequencing and in silico characterization, and compared it to the repeats of Alstroemeria longistaminea, a species from a sister genus that has been previously characterized.

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Evolutionary dynamics of the B chromosomes in the fish species Valenciennes, 1837 of the Paraná River Basin.

Comp Cytogenet

January 2025

Faculdade de Ciências, Universidade Estadual Paulista (UNESP), Avenida Edmundo Carrijo Coube, Bauru, SP, Brazil Universidade Estadual Paulista (UNESP) Bauru Brazil.

The fish species has an interesting B chromosome system, with three morphological types as acrocentric, metacentric, and submetacentric. However, most cytogenetic studies on this species are restricted to the natural population of the Mogi Guaçu River. Given this, the present work aimed to study the structure karyotypic profile as well as the occurrence of supernumeraries in in several localities in the Paraná River basin, where this species is abundant.

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A novel compound heterozygous mutation in the DYNC2H1 gene in a Chinese family with Jeune syndrome.

Hereditas

January 2025

Key Laboratory of Reproductive Health Diseases Research and Translation of Ministry of Education & Key Laboratory of Human Reproductive Medicine and Genetic Research of Hainan Provincie & Hainan Provincial Clinical Research Center for Thalassemia, The First Affiliated Hospital of Hainan Medical University, Hainan Medical University, Haikou, Hainan, 571101, China.

Background: The dynein cytoplasmic two heavy chain 1 (DYNC2H1) gene encodes a cytoplasmic dynein subunit. Cytoplasmic dyneins transport cargo towards the minus end of microtubules and are thus termed the "retrograde" cellular motor. Mutations in DYNC2H1 are the main causative mutations of short rib-thoracic dysplasia syndrome type III with or without polydactyly (SRTD3).

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Context.—: Chronic myeloid leukemia (CML) is a myeloproliferative disorder characterized by proliferation of the granulocytic cell line. The incidence of CML in Kenya is estimated at near 2000 cases annually.

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The stone marten (Martes foina) is an important species for cytogenetic studies in the order Carnivora. ZooFISH probes created from its chromosomes provided a strong and clean signal in chromosome painting experiments and were valuable for studying the evolution of carnivoran genome architecture. The research revealed that the stone marten chromosome set is similar to the presumed ancestral karyotype of the Carnivora, which added an additional value for the species.

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