Comparative genomics suggests extensive antithrombotic gene expansion in Haemadipsa yanyuanensis
Lin Y, Zhao F, Fan S, Yang D, Tong X, Tang L, Kong D, Lin G, Liu Z (2025) · BMC Genomics · n=0
Характеристика исследования
- Дизайн
- first chromosome-level genome assembly of the terrestrial blood-feeding leech Haemadipsa yanyuanensis using Nanopore long-read sequencing, Hi-C scaffolding, and RNA-seq (165 Mb, 9 chromosomes, 97.6% BUSCO); comparative genomic analysis with aquatic medicinal leeches (Hirudo medicinalis, Hirudo nipponia, Hirudinaria manillensis); Chinese consortium led by Kunming University and Jinggangshan University
- Размер выборки (n)
- —
- Вмешательство
- Chromosome-level genome assembly and transcriptomic profiling of an underrepresented terrestrial medicinal-leech species
- Компаратор
- Aquatic medicinal leech genomes (H. medicinalis, H. nipponia, H. manillensis)
- Первичная конечная точка
- Identification, characterization, and expression profiling of antithrombotic gene families in Haemadipsa yanyuanensis
- Основной результат
- 193 putative antithrombotic genes identified in 15 families — a 2.2-2.7-fold increase in gene number compared to aquatic medicinal leeches; bdellin, LDTI, and LCI gene families showed lineage-specific 8.7-25-fold expansion; novel progranulin gene with 122 cysteines and 9 tandem repeats; transcriptomic profiling confirmed elevated expression of four expanded families, suggesting terrestrial blood-feeding adaptation
- Длительность наблюдения
- Not applicable — genomics study
- PMID
- 41469844
Ключевые выводы
- First chromosome-level genome (165 Mb, 9 chromosomes) of Haemadipsa yanyuanensis terrestrial leech
- 193 antithrombotic genes in 15 families — substantially more than aquatic leeches
- Bdellin, LDTI, and LCI gene families expanded 8.7-25-fold
- Distinctive progranulin gene with 122 cysteines and 9 tandem repeats
- Expanded families show elevated transcription — likely terrestrial-feeding adaptation
Ограничения
- Genomics-only study — no protein expression or biochemical activity validation
- Functional implications of gene-family expansion are inferred, not demonstrated
- No clinical implication for human therapy in this paper
- Annotation quality dependent on aquatic-leech reference genomes
- Single representative individual sequenced for chromosome-level assembly
Клиническое значение
Lin 2025 expands the comparative-genomics landscape of medicinal leeches and identifies Haemadipsa yanyuanensis as a candidate species for next-generation antithrombotic drug discovery. For ASH's scientific literature, the study reinforces the broader pattern that underrepresented Asian leech species harbor novel pharmacology distinct from Hirudo medicinalis. No direct US K040187 clinical-practice implications — relevance is purely scientific and translational research.
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