Mutational disparities in colorectal cancers of White Americans, Alabama African Americans, And Oklahoma American Indians DOI Creative Commons
Hiroshi Yamada,

Madhusmita Rout,

Chao Xu

и другие.

npj Precision Oncology, Год журнала: 2024, Номер 8(1)

Опубликована: Дек. 23, 2024

Abstract The high incidence and mortality rates of colorectal cancer (CRC) in Alabama African Americans (AAs) Oklahoma American Indians (AIs) are recognized as disparities, yet the underlying causes have been poorly demonstrated. By evaluating CRC whole-exome sequencing mutational profiles, here we report sets mutated genes whose frequencies differed significantly ( p < 0.05) a race-specific manner. Secondary screening with database identified “survival-critical (SCGs)” (i.e., mutations/alterations associated significant differences patients’ survival rates) among differentially genes. Notable SCGs race-pronounced variants were different from DEGs their involved pathways included nucleotide catabolism cell cycle checkpoints for AAs, extracellular matrix organization AIs. inclusion these clinical next-generation panels development targeting drugs will serve refinements precision medicine to overcome racial disparities health outcomes CRC.

Язык: Английский

Structural Features and Synteny Analysis of the Sea Buckthorn Mitochondrial Genome DOI
Lei Ding, Yanli Tong, J. Zhang

и другие.

Research Square (Research Square), Год журнала: 2025, Номер unknown

Опубликована: Апрель 23, 2025

Abstract Background Sea buckthorn (Hippophae rhamnoides L.) is a plant of significant economic, culinary, medicinal, ecological, and societal value. In order to gain deeper understanding the sea mitochondrial genome, sequencing assembly genome was performed, its substructures were explored in this study. Results The seabuckthorn consists two circular chromosomes, with lengths 297,507 bp 167,037 bp, respectively. It encompasses 36 annotated protein-coding genes, 3 rRNA 25 tRNA genes. addition, 212 pairs repeats detected, including pair that mediated homologous recombination chromosomes form conformations. existence these conformations confirmed through PCR amplification Sanger sequencing. A total 162 SSR loci identified genome. There are 30 fragments chloroplast genomes, length 44,950 accounting for 9.89% genomes. Conclusions summary, study conducted annotation providing comprehensive plant. This knowledge great significance effective utilization genetic improvement seabuckthorn, especially breeding evolutionary analysis cytoplasmic male sterility.

Язык: Английский

Процитировано

0

Ethnogenetic analysis reveals the Bronze Age genetic affiliation of Yashkuns with West Eurasians DOI Creative Commons
Muhammad Umer Khan,

Tazeen Zahid,

Muhammad Farooq Sabar

и другие.

Scientific Reports, Год журнала: 2024, Номер 14(1)

Опубликована: Дек. 28, 2024

Focusing on the Yashkun population of Gilgit-Baltistan, an administrative territory in northern Pakistan, our study investigated mtDNA haplotypes as indicators ancient gene flow and genetic diversity. Genomic DNA was extracted evaluated for quality using agarose gel electrophoresis. The complete control region (nt 16024–576) amplified via PCR, sequencing performed Big Dye Terminator Kit Applied Biosystems Genetic Analyzer. Sequence alignment analysis were conducted Geneious software Cambridge Reference (CRS). Haplotypes classified into phylogenetic haplogroups with HaploGrep 2 Mito Tool platform, referencing PhyloTree version 17. identified considerable diversity within population, major macro-haplogroups H (29.47%), T (13.68%), M (13.68%) representing West Eurasian, South Asian, East & Southeast Asian lineages. highest affiliation Eurasian (73.68%), indicating significant from West. population's distinctiveness highlighted by calculation forensic characteristics, such power discrimination (PD = 0.9975), (GD 0.9865), random match probability (RMP 0.01349). knowledge makeup further improved inference links made possible comparisons other indigenous groups Pakistan. These results attest to reliability data applications ancestry tracking, individual identification, additions national databases. inclusion science is strongly supported this groundbreaking community, especially areas like Pakistan diverse histories.

Язык: Английский

Процитировано

0

Mutational disparities in colorectal cancers of White Americans, Alabama African Americans, And Oklahoma American Indians DOI Creative Commons
Hiroshi Yamada,

Madhusmita Rout,

Chao Xu

и другие.

npj Precision Oncology, Год журнала: 2024, Номер 8(1)

Опубликована: Дек. 23, 2024

Abstract The high incidence and mortality rates of colorectal cancer (CRC) in Alabama African Americans (AAs) Oklahoma American Indians (AIs) are recognized as disparities, yet the underlying causes have been poorly demonstrated. By evaluating CRC whole-exome sequencing mutational profiles, here we report sets mutated genes whose frequencies differed significantly ( p < 0.05) a race-specific manner. Secondary screening with database identified “survival-critical (SCGs)” (i.e., mutations/alterations associated significant differences patients’ survival rates) among differentially genes. Notable SCGs race-pronounced variants were different from DEGs their involved pathways included nucleotide catabolism cell cycle checkpoints for AAs, extracellular matrix organization AIs. inclusion these clinical next-generation panels development targeting drugs will serve refinements precision medicine to overcome racial disparities health outcomes CRC.

Язык: Английский

Процитировано

0