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1.
Mamm Genome ; 2024 Aug 27.
Artigo em Inglês | MEDLINE | ID: mdl-39191871

RESUMO

This study investigates the genomic landscape of Sika deer populations, emphasizing the detection and characterization of runs of homozygosity (ROH) and their contribution towards components of fitness. Using 85,001 high-confidence SNPs, the investigation into ROH distribution unveiled nuanced patterns of autozygosity across individuals especially in 2 out of the 8 farms, exhibiting elevated ROH levels and mean genome coverage under ROH segments. The prevalence of shorter ROH segments (0.5-4 Mb) suggests historical relatedness and potential selective pressures within these populations. Intriguingly, despite observed variations in ROH profiles, the overall genomic inbreeding coefficient (FROH) remained relatively low across all farms, indicating a discernible degree of genetic exchange and effective mitigation of inbreeding within the studied Sika deer populations. Consensus ROH (cROH) were found to harbor genes for important functions viz., EGFLAM gene which is involved in the vision function of the eye, SKP2 gene which regulates cell cycle, CAPSL involved in adipogenesis, SPEF2 which is essential for sperm flagellar assembly, DCLK3 involved in the heat stress. This first ever study on ROH in Sika deer, to shed light on the adaptive role of genes in these homozygous regions. The insights garnered from this study have broader implications in the management of genetic diversity in this vulnerable species.

2.
Cytogenet Genome Res ; : 1-19, 2024 Oct 05.
Artigo em Inglês | MEDLINE | ID: mdl-39369710

RESUMO

Background Our study focuses on Yakutian cattle, a Siberian native breed, examining its inbreeding and diversity through genome-wide analysis of Runs of Homozygosity (ROH). Yakutian cattle are adapted to Siberia's harsh sub-arctic conditions, enduring temperatures below -70°C. However, the population genetics studies on this breed are scanty, to document the genetic uniqueness in this cattle. Results We analyzed 40 Yakutian cattle with strict quality control for ROH detection yielding 683 homozygous segments, averaging to 17 per individual with an average length of 9 Mb. ROH regions were found to be involved in important pathways pertaining to cold adaptation. Autozygosity ranged from 1% to 12% of the genome, with a relatively low average inbreeding coefficient (FROH) of 0.057309, as compared to other breeds. Also, the different diversity indicators namely, principal component analysis, heterozygosity and effective population size analysis revealed prevalence of genetic diversity within the breed. Conclusion Our findings on ROH are first of its kind in Yakutian cattle that support their adaptability to colder environments, as evidenced by low inbreeding and high genetic diversity.

3.
Curr Genomics ; 25(4): 237-260, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-39156729

RESUMO

The fastest way to significantly change the composition of a population is through admixture, an evolutionary mechanism. In animal breeding history, genetic admixture has provided both short-term and long-term advantages by utilizing the phenomenon of complementarity and heterosis in several traits and genetic diversity, respectively. The traditional method of admixture analysis by pedigree records has now been replaced greatly by genome-wide marker data that enables more precise estimations. Among these markers, SNPs have been the popular choice since they are cost-effective, not so laborious, and automation of genotyping is easy. Certain markers can suggest the possibility of a population's origin from a sample of DNA where the source individual is unknown or unwilling to disclose their lineage, which are called Ancestry-Informative Markers (AIMs). Revealing admixture level at the locus-specific level is termed as local ancestry and can be exploited to identify signs of recent selective response and can account for genetic drift. Considering the importance of genetic admixture and local ancestry, in this mini-review, both concepts are illustrated, encompassing basics, their estimation/identification methods, tools/software used and their applications.

4.
Reprod Domest Anim ; 59(1): e14526, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-38268210

RESUMO

The research utilized data from 662 Murrah buffaloes meticulously recorded over 24 years (1996-2019) from historical pedigree sheets maintained at the buffalo farm of the Department of Livestock Production and Management (LPM) at Lala Lajpat Rai University of Veterinary and Animal Sciences (LUVAS), Hisar. A series of six univariate animal models were employed to calculate estimates of (co)variance components and heritability for first lactation reproduction traits. Among these models, Model 2 was identified as the best fit for age at first calving (AFC) and calving interval (CI), while Model 1 proved optimal for service period (SP) and conception rate (CR). The heritability estimates for AFC, SP, CR and CI across the models were ranged between 0.11 and 0.32, 0.01 and 0.03, 0.05 and 0.06, and 0.01 and 0.06, respectively. Maternal effects (m2 ) were observed in AFC and CI, ranging from 0.10 to 0.20 and 0.01 to 0.03, respectively. Across all three traits, there was a consistent negative genetic correlation (-0.75 to -0.92) between direct additive and maternal effects. The breeding values for AFC, SP, CR and CI varied within specific ranges from -32.85 to 44.33 days, -15.61 to 28.42 days, -7.41 to 6.48% and -20.64 to 35.79 days, respectively. Significantly, Spearman's rank correlation analysis revealed highly significant relationships (p < .01) between the breeding values of different models, indicating strong and consistent associations within these traits. These findings underscore the stable and reliable connections observed within the breeding values for these essential reproductive traits across the various models used in the study. The majority of reproductive traits showed favourable negative trends, indicating a positive outcome. A decrease in AFC, SP and CI suggests an extended economic life for the animals. Additionally, the upward trends in CR reflect positive indications of effective management practices and skilled operational procedures.


Assuntos
Bison , Animais , Feminino , Fazendas , Fertilização , Lactação/genética , Reprodução/genética
5.
J Craniofac Surg ; 30(1): e32-e34, 2019 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-30480626

RESUMO

Lip carcinoma is a common cancer of the head and neck region and it more commonly affects the lower lip (>90%). Out of all the carcinomas affecting the lower lip, squamous cell carcinoma accounts for 95% of the patients. Reconstruction of lower lip is a challenging task, as it requires taking into consideration the restoration of function as well as aesthetics. In this study, a patient for whom successful reconstruction of lower lip defect was done using the Karapandzic flap was presented.


Assuntos
Carcinoma de Células Escamosas/cirurgia , Neoplasias Labiais/cirurgia , Procedimentos de Cirurgia Plástica/métodos , Retalhos Cirúrgicos , Estética Dentária , Humanos , Masculino , Pessoa de Meia-Idade
6.
J Maxillofac Oral Surg ; 20(4): 545-550, 2021 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-34776682

RESUMO

BACKGROUND: Autologous hair transplantation has been the convention in cases of androgenic alopecia. Routinely, the occipital area serves as an ideal donor site. The advent of follicular unit extraction (FUE) has made body and beard hair harvest a possibility. Beard hair, in particular, has been far more sought after than other parts of the body. MATERIALS AND METHODS: A case series of 20 patients have been documented wherein cases with Grade 6 and 7 androgenic alopecia have been treated with beard hair as an adjunct donor site. The local anatomy, procedural technicalities and method of harvesting have been emphasized. The pre, intra and postoperative records have been maintained. DISCUSSION: The advent of FUE paved way for minimal downtime, better cosmesis and less scarring facilitating the possibility of using non-scalp hair in hair restoration, thus increasing the overall donor graft availability. Beard hair has its characteristic differences when compared to the scalp hair. Alongside there exists an array of advantages and disadvantages. CONCLUSION: Minimal complications and potential advantages have encouraged the usage of beard graft in the recent past. In hindsight, beard to scalp transplantation is a worthwhile alternative in cases demanding an expanded source of donor hair which demands further literary contribution.

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