<i>FSIP2</i>plays a role in the acrosome development during spermiogenesis

Zheng, Rui; Wang, Yan; Li, Yaqian; Guo, Juncen; Wen, Yuting; Jiang, Chuan; Yang, Yihong; Shen, Ying

doi:10.1136/jmedgenet-2021-108406

Cited by 9 publications

(6 citation statements)

References 47 publications

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“…Within this region, SNP rs466246713, a missense variant in the fibrous sheath interacting protein 2 ( FSIP2 ) gene, causes an A to G base pair change resulting in an amino acid change of histidine to arginine. FSIP2 is a spermatogenic cell-specific protein associated with spermatogenesis [ 33 ]. Zhang et al [ 34 ] found that mutations in FSIP2 affect the development and progression of testicular germ cell tumors and investigated the relationship between FSIP2 and renal cell carcinoma (ccRCC) in humans.…”

Section: Discussionmentioning

confidence: 99%

Exploring the genetic control of sweat gland characteristics in beef cattle for enhanced heat tolerance

Hernandez,

Zayas,

Rodriguez

et al. 2024

J Animal Sci Biotechnol

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Background Thermal stress in subtropical regions is a major limiting factor in beef cattle production systems with around $369 million being lost annually due to reduced performance. Heat stress causes numerous physiological and behavioral disturbances including reduced feed intake and decreased production levels. Cattle utilize various physiological mechanisms such as sweating to regulate internal heat. Variation in these traits can help identify genetic variants that control sweat gland properties and subsequently allow for genetic selection of cattle with greater thermotolerance. Methods This study used 2,401 Brangus cattle from two commercial ranches in Florida. Precise phenotypes that contribute to an animal’s ability to manage heat stress were calculated from skin biopsies and included sweat gland area, sweat gland depth, and sweat gland length. All animals were genotyped with the Bovine GGP F250K, and BLUPF90 software was used to estimate genetic parameters and for Genome Wide Association Study. Results Sweat gland phenotypes heritability ranged from 0.17 to 0.42 indicating a moderate amount of the phenotypic variation is due to genetics, allowing producers the ability to select for favorable sweat gland properties. A weighted single-step GWAS using sliding 10 kb windows identified multiple quantitative trait loci (QTLs) explaining a significant amount of genetic variation. QTLs located on BTA7 and BTA12 explained over 1.0% of genetic variance and overlap the ADGRV1 and CCDC168 genes, respectively. The variants identified in this study are implicated in processes related to immune function and cellular proliferation which could be relevant to heat management. Breed of Origin Alleles (BOA) were predicted using local ancestry in admixed populations (LAMP-LD), allowing for identification of markers’ origin from either Brahman or Angus ancestry. A BOA GWAS was performed to identify regions inherited from particular ancestral breeds that might have a significant impact on sweat gland phenotypes. Conclusions The results of the BOA GWAS indicate that both Brahman and Angus alleles contribute positively to sweat gland traits, as evidenced by favorable marker effects observed from both genetic backgrounds. Understanding and utilizing genetic traits that confer better heat tolerance is a proactive approach to managing the impacts of climate change on livestock farming.

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Section: Discussionmentioning

confidence: 99%

Exploring the genetic control of sweat gland characteristics in beef cattle for enhanced heat tolerance

Hernandez,

Zayas,

Rodriguez

et al. 2024

J Animal Sci Biotechnol

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“…This suggests that FSIP2 plays a major role in sperm tail formation. A recent study reported that FSIP2 mutations severely affect sperm acrodevelopment, suggesting that FSIP2 mutations are responsible for the development of globozoospermia [21].…”

Section: Discussionmentioning

confidence: 99%

Compound Heterozygous Mutations in FSIP2 Cause Morphological Abnormalities in Sperm Flagella Leading to Male Infertility

Gao

Zhang

et al. 2023

Andrologia

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Multiple morphological abnormalities of sperm flagella (MMAF) indicate severe teratozoospermia. The fibrous sheath interacting protein 2 (FSIP2) plays an important role in the normal construction of the flagella. In this study, a novel compound heterozygous mutation site of FSIP2, involving c.272_275delinsAGGTTTTTATA (p.L92Vfster74) and c.16788_16791del (p.E5596fs), was identified using whole-exome sequencing in a 32-year-old male. Electron microscope images revealed thick sperm neck, scattered sperm mitochondria, and short sperm tail. In addition, FSIP2 could not be visualized in sperm cells via immunofluorescence staining. Moreover, we used a protein domain prediction tool to identify a potential FSIP2 functional domain (5901-6774), the corresponding deletion of which was responsible for the MMAF phenotype in the infertile man. Finally, we reviewed the literature on FSIP2 and found that FSIP2 mutations are relatively concentrated, with high-frequency mutation regions in exon 16 and exon 17 accounting for 50% (10/20) and 35% (7/20) of cases, respectively. In conclusion, FISP2 is a common pathogenic gene of MMAF, which may provide a rationale for genetic counseling in the next generation of patients with male infertility.

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“…The primary defect in CK2α' knock-out testes is a specific abnormality of the anterior head shaping of elongating spermatids [51]. Recently, it was shown that FSIP2, which is associated with the development of the acrosome and flagellum in humans, seems to be involved in the expression of CK2α' [99]. Spermatozoa from patients carrying FSIP2 mutations showed a down-regulation of the expression of CK2α' [99].…”

Section: Biological Functions Of Ck2α'mentioning

confidence: 99%

Protein Kinase CK2α’, More than a Backup of CK2α

Montenarh,

Götz

2023

Cells

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The serine/threonine protein kinase CK2 is implicated in the regulation of fundamental processes in eukaryotic cells. CK2 consists of two catalytic α or α’ isoforms and two regulatory CK2β subunits. These three proteins exist in a free form, bound to other cellular proteins, as tetrameric holoenzymes composed of CK2α2/β2, CK2αα’/β2, or CK2α’2/β2 as well as in higher molecular forms of the tetramers. The catalytic domains of CK2α and CK2α’ share a 90% identity. As CK2α contains a unique C-terminal sequence. Both proteins function as protein kinases. These properties raised the question of whether both isoforms are just backups of each other or whether they are regulated differently and may then function in an isoform-specific manner. The present review provides observations that the regulation of both CK2α isoforms is partly different concerning the subcellular localization, post-translational modifications, and aggregation. Up to now, there are only a few isoform-specific cellular binding partners. The expression of both CK2α isoforms seems to vary in different cell lines, in tissues, in the cell cycle, and with differentiation. There are different reports about the expression and the functions of the CK2α isoforms in tumor cells and tissues. In many cases, a cell-type-specific expression and function is known, which raises the question about cell-specific regulators of both isoforms. Another future challenge is the identification or design of CK2α’-specific inhibitors.

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FSIP2plays a role in the acrosome development during spermiogenesis

Cited by 9 publications

References 47 publications

Exploring the genetic control of sweat gland characteristics in beef cattle for enhanced heat tolerance

Exploring the genetic control of sweat gland characteristics in beef cattle for enhanced heat tolerance

Compound Heterozygous Mutations in FSIP2 Cause Morphological Abnormalities in Sperm Flagella Leading to Male Infertility

Protein Kinase CK2α’, More than a Backup of CK2α

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