Human Mutation最新文献

S. Susgun, A. Ben-Mahmoud, F. Rüschendorf, et al., “Macrocephaly and Digital Anomalies Expand the Phenotypic Spectrum of PGAP2 Variants in Hyperphosphatasia with Impaired Intellectual Development Syndrome 3 (HPMRS3),” Human Mutation 2024 (2024): 5518289, https://doi.org/10.1155/2024/5518289.

In the article titled “Macrocephaly and Digital Anomalies Expand the Phenotypic Spectrum of PGAP2 Variants in Hyperphosphatasia with Impaired Intellectual Development Syndrome 3 (HPMRS3),” author “Solveig Schulz” was affiliated to “Zentrum für Humangenetik, Tübingen, Germany,” which is incorrect. The correct affiliation for this author appears below:

“Synlab Praxis Humangenetik, Jena, Germany”

We apologize for this error.

Cholangiocarcinoma exhibits a complex tumor microenvironment, yet the cellular interactions governing its progression remain poorly understood. Here, through integrated analysis of two independent single-cell RNA sequencing datasets comprising both complete tissue and immune-focused profiling, we comprehensively mapped the cellular landscape and intercellular communication networks in human cholangiocarcinoma. Our analysis revealed significant remodeling of immune cell compositions and interaction patterns in the tumor microenvironment. Notably, we identified enhanced ICOS signaling between dendritic cells and T cells as a prominent feature of cholangiocarcinoma. Using CellChat analysis, we demonstrated that tumor-associated dendritic cells, particularly plasmacytoid DCs, exhibit stronger ICOS-mediated communication with T cells compared to their counterparts in normal tissues. Functional validation experiments confirmed that tumor-conditioned dendritic cells upregulate ICOSL expression and promote CD8+ T-cell activation through the ICOS–ICOSL axis, as evidenced by increased CD69 and CD25 expression. This activation was specifically abolished by ICOSL blockade, establishing the functional significance of this pathway. Our findings provide novel insights into tumor-immune interactions in cholangiocarcinoma and suggest the ICOS–ICOSL axis as a potential therapeutic target for immunotherapy.

Noninvasive prenatal testing (NIPT) has been widely used in various monogenic recessive disorders based on relative haplotype dosage (RHDO) analysis. We accepted a congenital adrenal hyperplasia (CAH) pedigree with highly similar parental pathogenic haplotypes. The initial monogenic NIPT attempt was unsuccessful due to a paucity of informative single-nucleotide polymorphisms (SNPs), prompting improvement of the current method. With a refined algorithm that deduces the fetal genotype based on dosage changes at SNPs located on a specific parental haplotype, while also effectively sidestepping allele bias introduced by hybrid capture, monogenic NIPT was successfully carried out in this family, yielding results consistent with invasive prenatal diagnosis. Theoretically, this algorithm can be employed in scenarios involving consanguineous marriages or when parents share a highly homologous haplotype, thereby broadening its applicability. Detailed methodology is described, and the advantages of our algorithm are discussed.

Polycystic ovary syndrome is a common clinical condition often linked to insulin resistance (IR) and primarily affects women at reproductive age. Previous research has indicated a close association between mitochondrial tRNA (mt-tRNA) mutations and this syndrome; however, the range of mt-tRNA mutations in PCOS-IR remains largely unclear. In this study, we examined mt-tRNA mutations in 302 Han Chinese women with PCOS-IR and 589 control subjects, identifying a novel m.7544C>T mutation potentially related to this syndrome. At the molecular level, the m.7544C>T mutation occurs at a highly conserved nucleotide within the anticodon stem of mt-tRNA^Asp, disrupting the 30C-40G base-pairing. Using cybrids cells derived from two individuals carrying this mutation and two controls without it, we observed that the m.7544C>T decreased the steady-state levels of tRNA^Asp, altered mitochondrial RNA transcripts, impaired the activities of respiratory chain enzymes and oxygen consumption rates (OCRs), compromised mitochondrial functions, and increased oxidative stress. Overall, our findings strongly suggest that the m.7544C>T mutation contributes to the development of PCOS-IR, offering new insights into the pathophysiology of PCOS-IR driven by tRNA mutation–induced mitochondrial dysfunction and oxidative stress.

S. Zhao, X. Lin, Y. Huang, et al., “Prognostic Value of Ubiquitination-Related Genes in Ovarian Cancer and Their Correlation With Tumor Immunity,” Human Mutation 2025 (2025): 8369299, https://doi.org/10.1155/humu/8369299.

In the article titled “Prognostic Value of Ubiquitination-Related Genes in Ovarian Cancer and Their Correlation With Tumor Immunity,” there were errors in all the affiliations. The corrected affiliation list appears below:

Shu Zhao,^1,2,3,4 Xiaojing Lin,^1,3 Yuying Huang,² Zhongmin Kang,⁵ Huali Luo,² Qizhu Zhang,^1,3 Qinshan Li,^1,2,3 and Mengxing Li⁵

¹Department of Obstetrics and Gynecology, Institute of Precision Medicine of Guizhou Province, Affiliated Hospital of Guizhou Medical University, Guiyang, Guizhou, China

²Department of Clinical Biochemistry, School of Medical Laboratory Science, Guizhou Medical University, Guiyang, Guizhou, China

³Clinical Medical College, Guizhou Medical University, Guiyang, Guizhou, China

⁴Department of Obstetrics, Guizhou Provincial People’s Hospital, Guiyang, Guizhou, China

⁵Department of Hematology, Guizhou Province Institute of Hematology, Guizhou Province Laboratory of Hematopoietic Stem Cell Transplantation Centre, Affiliated Hospital of Guizhou Medical University Guiyang, Guizhou, China

We apologize for this error.