Molecular cloning, characterization and expression analysis of ARMC6, ARMC7, ARMC8 from Pacific white shrimp, Litopenaeus vannamei

Song, Shougang; Tan, Beiping; Dong, Xiaohui; Chi, Shuyan; Liu, Hongyu; Zhang, Haitao; Zhang, Shuang

doi:10.1016/j.gene.2018.10.007

Cited by 3 publications

(1 citation statement)

References 26 publications

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“…However, this gene is expressed in the brain. ARMC6 belongs to the Armadillo repeat-proteins (ARMCs) family which are distributed in eukaryotes and play prominent roles in cell-cell adhesion, intracellular signaling, and cytoskeletal regulation ( Song et al, 2019 ). Also, in situ hybridization revealed a high expression of Armcx6 in mouse neuronal tissue in the developing and adult nervous system ( López-Doménech et al, 2012 ).…”

Section: Discussionmentioning

confidence: 99%

The genetic landscape of autism spectrum disorder in the Middle Eastern population

Al-Sarraj,

Taha,

Al-Dous

et al. 2024

Front. Genet.

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Introduction: Autism spectrum disorder (ASD) is characterized by aberrations in social interaction and communication associated with repetitive behaviors and interests, with strong clinical heterogeneity. Genetic factors play an important role in ASD, but about 75% of ASD cases have an undetermined genetic risk.Methods: We extensively investigated an ASD cohort made of 102 families from the Middle Eastern population of Qatar. First, we investigated the copy number variations (CNV) contribution using genome-wide SNP arrays. Next, we employed Next Generation Sequencing (NGS) to identify de novo or inherited variants contributing to the ASD etiology and its associated comorbid conditions in families with complete trios (affected child and the parents).Results: Our analysis revealed 16 CNV regions located in genomic regions implicated in ASD. The analysis of the 88 ASD cases identified 41 genes in 39 ASD subjects with de novo (n = 24) or inherited variants (n = 22). We identified three novel de novo variants in new candidate genes for ASD (DTX4, ARMC6, and B3GNT3). Also, we have identified 15 de novo variants in genes that were previously implicated in ASD or related neurodevelopmental disorders (PHF21A, WASF1, TCF20, DEAF1, MED13, CREBBP, KDM6B,SMURF1, ADNP, CACNA1G, MYT1L, KIF13B, GRIA2, CHM, and KCNK9). Additionally, we defined eight novel recessive variants (RYR2, DNAH3, TSPYL2, UPF3B KDM5C, LYST, and WNK3), four of which were X-linked.Conclusion: Despite the ASD multifactorial etiology that hinders ASD genetic risk discovery, the number of identified novel or known putative ASD genetic variants was appreciable. Nevertheless, this study represents the first comprehensive characterization of ASD genetic risk in Qatar's Middle Eastern population.

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Section: Discussionmentioning

confidence: 99%

The genetic landscape of autism spectrum disorder in the Middle Eastern population

Al-Sarraj,

Taha,

Al-Dous

et al. 2024

Front. Genet.

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Analysis of differential proteins between non-capacitated and capacitated boar sperm and verification of the effect of phosphofructokinase on capacitation

et al. 2023

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A homozygous ARMC3 splicing variant causes asthenozoospermia and flagellar disorganization in a consanguineous family

Rahim,

Tao,

Khan

et al. 2024

Clinical Genetics

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Male infertility due to asthenozoospermia is quite frequent, but its etiology is poorly understood. We recruited two infertile brothers, born to first‐cousin parents from Pakistan, displaying idiopathic asthenozoospermia with mild stuttering disorder but no ciliary‐related symptoms. Whole‐exome sequencing identified a splicing variant (c.916+1G>A) in ARMC3, recessively co‐segregating with asthenozoospermia in the family. The ARMC3 protein is evolutionarily highly conserved and is mostly expressed in the brain and testicular tissue of human. The ARMC3 splicing mutation leads to the exclusion of exon 8, resulting in a predicted truncated protein (p.Glu245_Asp305delfs*16). Quantitative real‐time PCR revealed a significant decrease at mRNA level for ARMC3 and Western blot analysis did not detect ARMC3 protein in the patient's sperm. Individuals homozygous for the ARMC3 splicing variant displayed reduced sperm motility with frequent morphological abnormalities of sperm flagella. Transmission electron microscopy of the affected individual IV: 2 revealed vacuolation in sperm mitochondria at the midpiece and disrupted flagellar ultrastructure in the principal and end piece. Altogether, our results indicate that this novel homozygous ARMC3 splicing mutation destabilizes sperm flagella and leads to asthenozoospermia in our patients, providing a novel marker for genetic counseling and diagnosis of male infertility.

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Molecular cloning, characterization and expression analysis of ARMC6, ARMC7, ARMC8 from Pacific white shrimp, Litopenaeus vannamei

Cited by 3 publications

References 26 publications

The genetic landscape of autism spectrum disorder in the Middle Eastern population

The genetic landscape of autism spectrum disorder in the Middle Eastern population

Analysis of differential proteins between non-capacitated and capacitated boar sperm and verification of the effect of phosphofructokinase on capacitation

A homozygous ARMC3 splicing variant causes asthenozoospermia and flagellar disorganization in a consanguineous family

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