Genetic Analysis of Dog Congenital Deafness and Herding Behavior DOI Creative Commons

Fangzheng Xu

Published: Jan. 1, 2021

Strong artificial selections of canine morphological and behavioral traits lead to the formation more than 400 modern dog (Canis familiaris, CFA) breeds within past 300 years. Most are derived from small numbers founders, this closed genetic pool each breed results in high frequency occurrence congenital disorders. The majority these heredopathies share common clinical signs with corresponding human diseases. Therefore, dogs appropriate spontaneous models for studying Congenital deafness can cause both health welfare problems dogs, it is quite prevalent among several such as Dalmatian, Australian Cattle Dog, English Setter Stumpy Tail Dog (ASCD). However, hearing loss causative or associated genes not yet identified. purpose study Chapter 2 was identify related ASCD. Three bilateral deaf one normal ASCDs were whole genome sequenced. publicly available 722 sequences also used investigate potential mutations study. A case-control genome-wide association (GWAS) conducted by setting three affected cases, unaffected ASCD 43 additional herding group controls. GWAS identified loci on six chromosomes (CFA3, 8, 17, 23, 28 37), most (7 out 13) significantly located CFA37. private variants unique filtered comparison controls over 144 breeds. Subsequent annotation performed, only potentially functional resulting four remaining missense mutations. mutation Kruppel-like factor 7 (KLF7) gene (NC_006619.3: g.15562684G>A; XP_022270984.1: p.Leu173Phe) CFA37 could be emphasized considering variant effect prediction function. KLF7 inner ear expression a impact development sensory neurons known. Further genotyping 27 still supported its deafness. Dogs have been selectively bred intensify performance abilities regard diverse tasks herding, hunting companionship. Finally, vary diversely but traits. analysis using standard values well studied, many auspicious due complexity behavior traits, research progress topic limited. 3 intended elucidate candidate underlying including predation, temperament trainability. phenotype information obtained American Kennel Club, which classified into seven groups (Herding, Hound, Working, Terrier, Toy, Sporting Non-sporting) based behavior, heritage historical roles. 268 130 Four GWASs performed genes. compared other categories GWAS. Candidate neurological THOC1, ASIC2, MSRB3, LLPH, RFX8 CHL1 detected nearest significant Regarding predation modified predatory like repression killing instinct, while hound enhance behaviors. We then use analyze behavior. neural JAK2, MEIS1 LRRTM4 that revealed candidates. In GWAS, ACSS3 trait. behaviors reported body mass, so we repeated incorporating size covariates. Similar except associations JAK2 observed, contribute through their effects brain architecture. Linkage disequilibrium (LD) signals conducted. Promising processes cellular components disclosed GO dogs. described 4, function ABHD16B bull infertility. exact remains unknown. Western blot applied locate protein expression, uncovering testis tissue sperm cells. owns domain α/β-hydrolase (ABHD) ABHD members involved lipid metabolism. It assumed play roles biosynthesis membrane lipids. Lipidomes heterozygous homozygous wild-type sperms analyzed explore aberrations. Several PC, DAG, Cer, SM PC found altered verified our hypothesis. imbalanced homeostasis responsible infertility problem subjected

Language: Английский

CASA-Mot in mammals: an update DOI
J.L. Yániz, Miguel Á. Silvestre, P. Santolaria

et al.

Reproduction Fertility and Development, Journal Year: 2018, Volume and Issue: 30(6), P. 799 - 799

Published: Jan. 1, 2018

Sperm motility is one of the most widely used parameters sperm quality. Computer-aided analysis (CASA-Mot) systems were developed to reduce subjectivity assessment, and have had broad scientific practical acceptance. In this review, sources variation current applications technology its relationships with other quality tests are described in detail. Despite remarkable advances technique, there still great need for standardisation many species, numerous factors that affect results make it difficult provide universally accepted criteria classifying semen samples based on characteristics. The main fields CASA-Mot include study male fertility pathologies, evaluation effects physical chemical agents, improvement epidemiological survey studies, more precise calculation seminal doses farm animals, realisation basic studies about function, technologies such as cryopreservation control analysis. Numerous been established between tests, although these complementary. Future will probably be able integrate several motility.

Language: Английский

Citations

57

Bilateral varicocele leads to ferroptosis, pyroptosis and necroptosis of human spermatozoa and affects semen quality in infertile men DOI Creative Commons
Tie Sun,

Dong Mei Li,

Yu Hong

et al.

Frontiers in Cell and Developmental Biology, Journal Year: 2023, Volume and Issue: 11

Published: Feb. 2, 2023

Purpose: This study explored the effects of bilateral varicocele on male semen quality in infertile men and molecular mechanisms involving ferroptosis, pyroptosis necroptosis signaling pathways. Methods: Totally, 20 healthy males 26 patients with receiving infertility treatment were enrolled. Semen samples collected. Basic parameters, acrosome integrity membrane integrity, mitochondrial potential (MMP) apoptosis rate compared. Levels reactive oxygen species (ROS), iron, glutathione (GSH), total superoxide dismutase (T-SOD), and, Catalase (CAT), detected human seminal plasma. Relative mRNA expression Ca 2+ -independent phospholipases A2 beta ( iPLA 2β ), P53, Zinc finger E-box binding homeobox 1 ZEB1 ) GSH-dependent peroxidase 4 GPX4 evaluated. protein was determined for GPX4, receptor interacting serine/threonine kinase (RIPK1) 3 (RIPK3), as well markers Gasdermin E (GSDME) heat shock 90 (HSP 90). Results: The results revealed that group had significantly higher abnormalities (sperm progressive sperm motility) compared to control group. Meanwhile, group, GSH, T-SOD, CAT levels reduced p < 0.05). However, level ROS iron increased P53 , reduced. In addition, exposure activated ferroptosis-related signal RIPK1, RIPK3, GSDME HSP affected pathways related necrosis spermatozoa. Conclusion: Bilateral leads spermatozoa affects men.

Language: Английский

Citations

15

Sperm Quality Assessment in Honey Bee Drones DOI Creative Commons
J.L. Yániz, Miguel Á. Silvestre, P. Santolaria

et al.

Biology, Journal Year: 2020, Volume and Issue: 9(7), P. 174 - 174

Published: July 18, 2020

The quality of honey bee drone semen is relevant in different contexts, ranging from colony productivity to pathology, toxicology and biodiversity preservation. Despite its importance, considerably less knowledge available on this subject for the when compared other domestic animal species. A proper assessment sperm requires a multiple testing approach which discriminates between aspects integrity functionality. Most studies have only assessed few parameters, such as volume, concentration and/or plasma membrane integrity. Although more recent focused broader variety quality, some techniques currently used vertebrates, computer-assisted analysis (CASA) or multiparametric testing, still remain be developed bee. This may attributed particular morphology physiology species, requiring development technologies specifically adapted it. article reviews present drones, highlighting peculiarities proposing future lines research.

Language: Английский

Citations

37

Review: Evaluation of bull fertility. Functional and molecular approaches DOI Creative Commons
H. Bollwein, Eleni Malama

animal, Journal Year: 2023, Volume and Issue: 17, P. 100795 - 100795

Published: May 1, 2023

With the term "assisted reproduction technologies" in modern cattle farming, one could imply collection of techniques that aim at optimal use bovine gametes to produce animals high genetic value a time- and cost-efficient manner. The accurate characterisation sperm quality plays critical role for efficiency several assisted reproduction-related procedures, such as processing, vitro embryo production artificial insemination. Bull fertility is ultimately collective projection ability series ejaculates endure processing stress, achieve fertilisation oocyte viable well-developing embryo. In this concept, assessment functional molecular characteristics key bull diagnostics prognostics. Among others, features linked plasma membrane, acrosome DNA integrity are usually assessed measure express phenotypes will allow them maintain their homeostasis orchestrate-in strict temporal manner-the course events enable delivery content upon fertilisation. Nevertheless, measures functionality not always adequate indicators fertility. Nowadays, advancements field biology have facilitated profiling biomolecules male gametes. offers deeper insight into mechanisms underlying physiology and, thus, can reveal novel candidate markers prognosis. review, importance three organelles (the nucleus, membrane acrosome) fertilising capacity discussed levels. particular, information about head morphometry, chromatin structure, viability well capacitate undergo reaction presented relation cryotolerance Finally, major spermatozoal coding non-coding RNAs, proteins involved above-mentioned aspects also summarised.

Language: Английский

Citations

11

Bull Sperm SWATH-MS-Based Proteomics Reveals Link between High Fertility and Energy Production, Motility Structures, and Sperm–Oocyte Interaction DOI Creative Commons
Sabrina Gacem, María Castelló‐Ruiz, C.O. Hidalgo

et al.

Journal of Proteome Research, Journal Year: 2023, Volume and Issue: 22(11), P. 3607 - 3624

Published: Oct. 2, 2023

The prediction of male or semen fertility potential remains a persistent challenge that has yet to be fully resolved. This work analyzed several in vitro parameters and proteome spermatozoa bulls cataloged as high- (HF; n = 5) low-field (LF; after more than thousand artificial inseminations. Sperm motility was evaluated by computer-assisted sperm analysis. viability, mitochondrial membrane (MMP) reactive oxygen species (mROS) were assessed flow cytometry. Proteome the SWATH-MS procedure. Spermatozoa HF showed significantly higher total LF group (41.4% vs 29.7%). Rates healthy (live, high MMP, low mROS) for bull groups 49% 43%, respectively (p > 0.05). presence differentially abundant proteins (DAPs) related both energy production (COX7C), mainly OXPHOS pathway, development structures linked with process (TPPP2, SSMEM1, SPAG16). Furthermore, we observed equatorin (EQTN), together other DAPs interaction oocyte, overrepresented spermatozoa. biological processes protein processing, catabolism, folding found which HSP90AA1 chaperone identified most DAP. Data are available via ProteomeXchange identifier PXD042286.

Language: Английский

Citations

11

Boar Sperm Motility Assessment Using Computer-Assisted Sperm Analysis: Current Practices, Limitations, and Methodological Challenges DOI Creative Commons

Lenka Hackerová,

Aneta Pilsova,

Zuzana Pilsova

et al.

Animals, Journal Year: 2025, Volume and Issue: 15(3), P. 305 - 305

Published: Jan. 22, 2025

Spermatozoa are highly specialized male cells that characterized by a unique ability to move, which is critical factor for successful fertilization. The relative simplicity of motility assessment, especially in livestock, has made it widely used parameter evaluating ejaculate quality or cryopreserved semen the clinical field, and an advanced tool reproductive physiology toxicology research. Technological advances image analysis computational methods have substantially increased its accuracy through use computer-assisted sperm (CASA) minimize subjective bias assessments. Nevertheless, this more objective method still presents some significant challenges, including variability sample preparation, imaging conditions, analytical parameters. These issues contribute inconsistency impair reproducibility comparability data between laboratories. implementation standardized protocols, combined with comprehensive training rigorous evaluation, can serve mitigate emerging inconsistencies. In addition, vitro conditions under CASA analyses performed often differ significantly from natural environment female tract vivo. This review discusses methodologies, issues, limitations using CASA, particular focus on boar as important agricultural biomedical model species system used.

Language: Английский

Citations

0

Review: Integrating a semen quality control program and sire fertility at a large artificial insemination organization DOI Creative Commons
B.R. Harstine,

M.D. Utt,

J.M. DeJarnette

et al.

animal, Journal Year: 2018, Volume and Issue: 12, P. s63 - s74

Published: Jan. 1, 2018

The technology available to assess sperm population characteristics has advanced greatly in recent years. Large artificial insemination (AI) organizations that sell bovine semen utilize many of these technologies not only for novel research purposes, but also make decisions regarding whether or discard the product. Within an AI organization, acquisition, interpretation and utilization quality data is often performed by a control department. In general, sales are founded on linkages established between field fertility. Although no one individual bioassay been successful predicting sire fertility, correlations various vivo fertility measures have reported. most powerful techniques currently evaluate high-throughput include computer-assisted analysis flow cytometric analyses quantify attributes fluorescently stained cells. However, all measuring biological parameters subject principles precision, accuracy repeatability. Understanding limitations repeatability laboratory important assurance program. Hence, acquire sizeable sets pertaining well-positioned examine comment collection interpretation. This especially true where sires highly selected December 2017 conception rate report Council Dairy Cattle Breeding, 93% Holstein (n=2062) possessed deviations within 3% breed average. Regardless reporting system, estimates should be based appropriate number services per sire. Many users impose unrealistic expectations predictive value assessments due lack understanding inherent precision binomial gathered from sources. Basic statistical warn us importance experimental design, balanced treatments, sampling bias, models results with consideration sample size power. Overall, this review seeks describe connect use vitro bioassays, management surrounding implementation

Language: Английский

Citations

37

Determining the relationship between bull sperm kinematic subpopulations and fluorescence groups using an integrated sperm quality analysis technique DOI
J.L. Yániz,

I. Palacín,

K. S. Caycho

et al.

Reproduction Fertility and Development, Journal Year: 2018, Volume and Issue: 30(6), P. 919 - 919

Published: Jan. 1, 2018

The aim of the present study was to determine whether there is an association between kinematic sperm subpopulations and fluorescent groups in bulls using a new staining method that allows classification spermatozoa into depending on their acrosomal membrane integrity, as well functional status, without inhibiting motility. Cryopreserved semen samples from 10 Holstein were used study. A multiparametric analysis results obtained by ISAS 3Fun kit (Proiser) performed. different detected motility characteristics evaluated software. Clustering procedures data resulted three subpopulations. distribution (P < 0.001), although correlation them low (r = 0.113; P 0.01).

Language: Английский

Citations

31

What is the importance of sperm subpopulations? DOI Creative Commons
Felipe Martínez‐Pastor

Animal Reproduction Science, Journal Year: 2021, Volume and Issue: 246, P. 106844 - 106844

Published: Sept. 11, 2021

The study of sperm subpopulations spans three decades. origin, meaning, and practical significance, however, are less clear. Current technology for assessing morphology (CASA-Morph) motility (CASA-Mot) has enabled the accurate evaluation these features, there many options data classification. Subpopulations could occur as a result stage development each spermatozoon in subpopulation. Spermatogenesis might contribute to production subpopulations. Insights from evolutionary biology recent molecular research indicative diversity among male gametes that unequal sharing transcripts other elements through cytoplasmic bridges between spermatids. Sperm cohorts exiting gonads would contain different RNA protein contents, affecting physiology associations with surrounding environmental milieu. Subsequently, differences affect how spermatozoa interact milieu (maturation, mixing seminal plasma, interacting milieu, or female genital tract gamete). emergence an outcome evolution, related reproductive strategies species, structures, copulatory fertilization processes. This kind approach determining importance capacity should have impact conducting technologies, inspiring enabling new ways more efficient use medical, animal breeding, conservation fields. manuscript is contribution Special Issue memory Dr. Duane Garner.

Language: Английский

Citations

21

Association of α/β-Hydrolase D16B with Bovine Conception Rate and Sperm Plasma Membrane Lipid Composition DOI Open Access

Shuwen Shan,

Fangzheng Xu,

Martina Bleyer

et al.

International Journal of Molecular Sciences, Journal Year: 2020, Volume and Issue: 21(2), P. 627 - 627

Published: Jan. 17, 2020

We have identified a Holstein sire named Tarantino who had been approved for artificial insemination that is based on normal semen characteristics (i.e., morphology, thermoresistance, motility, sperm concentration), but no progeny after 412 first inseminations, resulting in non-return rate (NRdev) of −29. Using whole genome association analysis and next generation sequencing, an associated nonsense variant the α/β-hydrolase domain-containing 16B gene (ABHD16B) bovine chromosome 13 was identified. The frequency mutant allele German population determined to be 0.0018 222,645 investigated cattle specimens. traced back Whirlhill Kingpin (bornFeb. 13th, 1959) as potential founder. expression ABHD16B detected by Western blotting immunohistochemistry testis epididymis control bulls. A lipidome comparison plasma membrane fresh from carriers controls showed significant differences concentration phosphatidylcholine (PC), diacylglycerol (DAG), ceramide (Cer), sphingomyelin (SM), (-ether) (PC O-), indicating plays role lipid biosynthesis. altered contents may explain reduced fertilization ability mutated sperms.

Language: Английский

Citations

18