CCDC91

Last update 08 May 2025

Basic Info

Synonyms

CCDC91, coiled-coil domain containing 91, Coiled-coil domain-containing protein 91

+ [6]

Introduction

Involved in the regulation of membrane traffic through the trans-Golgi network (TGN). Functions in close cooperation with the GGAs in the sorting of hydrolases to lysosomes.

100 Clinical Results associated with CCDC91

100 Translational Medicine associated with CCDC91

0 Patents (Medical) associated with CCDC91

Literatures (Medical) associated with CCDC91

01 Jan 2025·Zoological Research

Whole-genome sequencing reveals genetic architecture and selection signatures of Kazakh cattle

Article

Author: Qiu, Min ; Primkul, Ibragimov ; Xu, Yuan ; Jiang, Yu ; Kassen, Kuanysh ; Liu, Yi ; Nanaei, Hojjat Asadollahpour ; Cai, Yu-Dong ; Niyazbekova, Zhannur ; Ruzikulov, Nuriddin ; Gao, Cai-Yue ; Ussenbekov, Yessengali ; Wang, Hao-Ping ; Akhmetsadykova, Shynar

Local cattle breeds play a critical role in breeding programs due to their genetic adaptations to diverse environmental conditions. However, the genomic architecture of local cattle breeds in Kazakhstan remains largely unexplored. This study utilized whole-genome sequencing data from Kazakh cattle to elucidate their genetic composition, uncovering three primary ancestral components: European, Eurasian, and East Asian taurine. The East Asian taurine lineage likely represents the earliest genetic contribution to Kazakh cattle but was largely replaced by subsequent waves of cattle migrations across Eurasia, leaving only a minor genetic signature in the current cattle population. In contrast, Eurasian taurine ancestry predominated in the Alatau and Kazakh local breeds, while the European taurine component was most prevalent in Kazakh white-headed cattle, consistent with their documented breeding history. Kazakh cattle exhibited higher genetic diversity and lower inbreeding coefficients compared to European commercial breeds, reflecting reduced exposure to intense artificial selection. A strong selection signal was identified on chromosome 6 at a locus encompassing PDGFRA, KIT, and KDR, which may be associated with the white-headed pigmentation characteristic of Kazakh white-headed cattle. Additional genes under selection were linked to lipid metabolism ( IRS1, PRKG1, and ADCY8), meat production traits ( KCNMA1, PDGFRA, HIF1A, and ANTXR1), and dairy production ( ATP2B1, DHX15, FUK, NEGR1, CCDC91, COG4, and PTK2B). This study represents the first comprehensive analysis of nuclear genome data from local Kazakh cattle. It highlights the impact of historical cattle migrations across Eurasia on their genetic landscape and identifies key genomic regions under selection. These findings advance our understanding of the evolutionary history of cattle and offer valuable genetic resources for future breeding strategies.

01 Jun 2024·European Journal of Human Genetics

A mutation in CCDC91, Homo sapiens coiled-coil domain containing 91 protein, cause autosomal-dominant acrokeratoelastoidosis

Article

Author: Ge, HongSong ; Wu, Fei ; Liu, Yeqiang ; Wu, Nanhui ; Li, Ming ; Xu, Mingyuan ; Bai, Yun ; Zhu, Yunlu ; Yan, Wannian

AbstractAcrokeratoelastoidosis (AKE) is a rare autosomal dominant hereditary skin disease characterized by small, round-oval, flat-topped keratotic papules on the palms, soles and dorsal aspect of hands or feet. The causative gene for AKE remains unidentified. This study aims to identify the causative gene of AKE and explore the underlying biological mechanisms. A large, three-generation Chinese family exhibiting classic AKE symptoms was identified. A genome-wide linkage analysis and whole-exome sequencing were employed to determine the causative gene. shRNA knockdown in human skin fibroblasts and CRISPR/Cas9 knockout in HEK293T cells were utilized to assess gene functions in the progression of elastic fiber biosynthesis. The linkage analysis identified a susceptibility region between rs7296765 to rs10784618 on chromosome 12. Whole-exome sequencing confirmed a splicing mutation of 1101 + 1 G > A in the CCDC91 gene, resulting in exon 11 skipping and a subsequent 59-amino-acid-residue loss (residues L309-Q367del). Further functional analysis revealed distended Golgi cisternae, cytoplasmic vesicle accumulation, and lysosome presence. Immnunostaining of si-CCDC91-HSF cells demonstrated tropoelastin accumulation in the Golgi and abnormal extracellular aggregates. There are no significant changes in Fibrillin-1 microfibril assembly and lysyl oxidase activity. The findings strongly suggest that the protein product of the CCDC91 gene plays a crucial role in elastin transport. This discovery enhances our understanding of CCDC91’s function and broadens the known pathogenic mechanisms of AKE.

01 Aug 2023·ESMO Open

A three-gene signature marks the time to locoregional recurrence in luminal-like breast cancer

Article

Author: Triulzi, T ; Pruneri, G ; Brich, S ; Truffi, M ; Cappelletti, V ; Ratti, C ; Corsi, F ; Cancila, V ; Lecchi, M ; De Cecco, L ; Talarico, G ; Ciniselli, C M ; Piccotti, F ; Sottotetti, F ; Tripodo, C ; Verderio, P ; Di Cosimo, S ; Chiodoni, C ; Colombo, M P ; Tripodi, I ; Sangaletti, S ; Baili, P

BACKGROUNDGene expression profiling (GEP)-based prognostic signatures are being rapidly integrated into clinical decision making for systemic management of breast cancer patients. However, GEP remains relatively underdeveloped for locoregional risk assessment. Yet, locoregional recurrence (LRR), especially early after surgery, is associated with poor survival.PATIENTS AND METHODSGEP was carried out on two independent luminal-like breast cancer cohorts of patients developing early (≤5 years after surgery) or late (>5 years) LRR and used, by a training and testing approach, to build a gene signature able to intercept women at risk of developing early LRR. The GEP data of two in silico datasets and of a third independent cohort were used to explore its prognostic value.RESULTSAnalysis of the first two cohorts led to the identification of three genes, CSTB, CCDC91 and ITGB1, whose expression, derived by principal component analysis, generated a three-gene signature significantly associated with early LRR in both cohorts (P value <0.001 and 0.005, respectively), overcoming the discriminatory capability of age, hormone receptor status and therapy. Remarkably, the integration of the signature with these clinical variables led to an area under the curve of 0.878 [95% confidence interval (CI) 0.810-0.945]. In in silico datasets we found that the three-gene signature retained its association, showing higher values in the early relapsed patients. Moreover, in the third additional cohort, the signature significantly associated with relapse-free survival (hazard ratio 1.56, 95% CI 1.04-2.35).CONCLUSIONSOur three-gene signature represents a new exploitable tool to aid treatment choice in patients with luminal-like breast cancer at risk of developing early recurrence.

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