RESUMEN
Pyroelectric materials in the field of photoelectrochemical (PEC) water splitting still face the problems of difficult low spontaneous polarization intensity and excessive carrier recombination. Based on the above problems, we altered the interaction between S-Nb-S in the [NbO]6-x -xS structure, and the constructed [NbO]6-x -xS structure achieved the regulation of charge density change and spontaneous polarization. The results show that under the stimulation of light and temperature fluctuations, the current density of the NS-4 photoanode is as high as 0.574â mA/cm2 at 1.23â VRHE , which is about 1.59â times higher than the pure NaNbO3 current density value, and the NS -4 photoanode achieves IPCE value of 16.08 %. The first-principles density-functional theory calculations (DFT) reveal the principle of the [NbO]6-x -xS structure for the suppression function of the carrier recombination and the improvement function of the pyroelectric effect. The analysis shows that the S-doping leads to the weakening of S-Nb-S interactions in the [NbO]6-x -xS structure, which improves the pyroelectric effect and suppresses the photo/pyro-generated carrier recombination, and effectively enhances the performance of the pyro-photo-electric synergistic water splitting system. This work promotes the development of pyroelectric materials in the field of photoelectrochemical water splitting.
RESUMEN
The DNA methyltransferase 3 beta (DNMT3B) gene is key for DNA methylation and has been well recognized in regulating growth and development. A previous observation indicated that an 11-bp indel of DNMT3B affected the reproductive traits in goats, yet the effect of this polymorphism on body measurement traits in goats has not been reported. This study aims to investigate the associations between DNMT3B gene polymorphism and goat growth traits. We investigated this 11-bp indel in 2184 goats and three genotypes have been found in Shaanbei white cashmere goat (SBWC): insertion/insertion (II), deletion/deletion (DD) and insertion/deletion (ID). Only ID and DD genotypes were detected in Nubian goats and Guizhou heima goat (GZHM). The allele frequencies analyzed revealed that the 'D' allele frequencies were higher in all three goat breeds. Further association analysis demonstrated that this indel is markedly associated with the cannon circumference (CC) and cannon circumference index (CCI) of SBWC and cannon circumference (CC) of Nubian goats (p < .05). The CC and CCI are essential indicators to measure the growth status of goats. In summary, our study sheds some light on the potential impact of the 11-bp indel polymorphism of the DNMT3B gene on improving the growth traits in goats.
Asunto(s)
Cabras , Polimorfismo Genético , Animales , Cabras/genética , Fenotipo , Frecuencia de los Genes , Genotipo , Polimorfismo Genético/genéticaRESUMEN
Calsyntenin-2 (CLSTN2) is involved in cell proliferation, differentiation, cell death, tumorigenesis, and follicular expression. Although CLSTN2 has been identified as a potential candidate gene for sheep prolificacy, no studies have been done on its effect on goat prolificacy. The purpose of this study was to identify mRNA expression and genetic variation within goat CLSTN2, and its association with prolificacy. Herein, we uncovered significant differences in mRNA levels of the CLSTN2 gene in different tissues in female goats (p < 0.01), including ovary tissue. Nine putative indels were designed to investigate their correlation to litter size, but only one 16-bp deletion was discovered in female Shaanbei white cashmere goats (n = 902). We discovered that a 16-bp deletion within the CLSTN2 gene was significantly correlated with first-born litter size (p = 0.0001). As shown by the chi-squared test, the genotypic II of single-lambs and multi-lambs was dramatically higher than with genotype ID (p = 0.005). Our findings suggest that indel within the CLSTN2 gene is a candidate gene affecting prolificacy in goats and may be used for Marker Assisted Selection (MAS) in goats.
Asunto(s)
Cabras , Mutación INDEL , Embarazo , Animales , Femenino , Ovinos/genética , Tamaño de la Camada/genética , Cabras/genética , Genotipo , Mutación INDEL/genética , ARN MensajeroRESUMEN
RAR related orphan receptor A (RORA), which encodes the retinoid-acid-related orphan receptor alpha (RORα), is a clock gene found in skeletal muscle. Several studies have shown that RORα plays an important role in bone formation, suggesting that RORA gene may take part in the regulation of growth and development. The purpose of this research is to study the insertion/deletion (indel) variations of the RORA gene and investigate the relationship with the growth traits of Shaanbei white cashmere (SBWC) goats. Herein, the current study identified that the P4-11-bp and P11-28-bp deletion sites are polymorphic among 12 pairs of primers within the RORA gene in the SBWC goats (n = 641). Moreover, the P11-28-bp deletion locus was significantly related to the body height (p = 0.046), height at hip cross (p = 0.012), and body length (p = 0.003). Both of P4-11-bp and P11-28-bp indels showed the moderate genetic diversity (0.25Asunto(s)
Cabras
, Mutación INDEL
, Embarazo
, Femenino
, Animales
, Tamaño de la Camada/genética
, Cabras/fisiología
, Mutación INDEL/genética
, Fenotipo
RESUMEN
The SMAD family member 2 (SMAD2), a member of the TGF-beta superfamily, executes a significant part in the oogenesis and ovulation process. A genome-wide selective sweep analysis also found SMAD2 was different in the fertility groups of Laoshan dairy goats; whether this gene was linked to litter size was unknown. Therefore, SMAD2 was chosen to study its effects on Shaanbei white cashmere goat reproduction and mRNA expression profile. Herein, the mRNA expression level of SMAD2 was firstly determined in female goat tissues, revealing significant differences in mRNA levels of different tissues (p < 0.05), including ovary tissue, indicating a potential role for SMAD2 in goat prolificacy. Then, using six pairs of primers, only one indel locus (P3-Del-12-bp) was found to be polymorphic in goat SMAD2 (n = 501). ANOVA also revealed that a P3-Del-12-bp deletion was significantly related to first-born litter size (p = 0.037). The Chi-square (χ2) test revealed that the ID genotype was significantly more prevalent in mothers with multiple lambs (p = 0.01), indicating that heterozygous individuals (ID) are more likely to produce multiple lambs. Our findings suggest that the SMAD2 gene's P3-Del-12-bp deletion could be used to improve goat breeds by assisting with litter size selection.
Asunto(s)
Cabras , Reproducción , Embarazo , Femenino , Animales , Ovinos/genética , Tamaño de la Camada/genética , Cabras/genética , Reproducción/genética , Genotipo , Mutación INDEL , ARN Mensajero/genéticaRESUMEN
SMAD family member 2 (SMAD2) is a member of the TGFß signaling pathway and functions as an essential regulator in the processes of development, cell proliferation, and bone formation. A previous observation reported that a 12-bp deletion of this gene affected the litter size in goats. However, according to our knowledge, no study has reported an association between this polymorphism and goat body measurement traits. The purpose of this study was to investigate the association of the insertion/deletion (indel) within the SMAD2 gene with the growth traits of goats. The indel polymorphism was found to be significantly associated with chest width and bust (p < 0.05), while cannon circumference was significantly the strongest compared to other traits (p < 0.01) and individuals with the DD genotypes were more dominant genotypes than other genotypes. In summary, we found evidence that the 12-bp indel within the SMAD2 gene could improve goat body measurement traits, paving the way for marker-assisted selection in the field of goat genetics and breeding.
RESUMEN
BACKGROUND: A low-protein diet (LPD) is believed to be beneficial in slowing the progression of kidney disease. It is reported that low protein diet can improve protein, sugar and lipid metabolism, and reduce the symptoms and complications of renal insufficiency. However, there has been controversial regarding the effects of protein restriction on diabetic nephropathy (DN). OBJECTIVE: To investigate the efficacy of LPD on renal function in patients with type 1 or 2 DN by meta-analysis of randomized controlled trials (RCTs). DESIGN: PubMed, MEDLINE, EMBASE and China National Knowledge Infrastructure databases were searched. Eleven randomized controlled trials met the inclusion criteria, of which 10 were English and 1 was Chinese. The primary outcome was a change in glomerular filtration rate (GFR). The secondary outcome was a change in proteinuria. Random-effects models were used to calculate the standardized mean difference (SMD) and the corresponding 95% confidence intervals (CI). Subgroup analyses were also performed. RESULTS: Our research indicated that LPD was not associated with a significant improvement in GFR (1.59 ml · min-1 · 1.73 m-2, 95% CI -0.57, 3.75, I2 = 76%; p = 0.15). This effect was consistent across the subgroups regardless of type of diabetes, course of diabetes and intervention period. Our results also showed that there was no significant difference on improvement of proteinuria in patients of LPD and those in normal-protein diet groups (- 0.48, 95%CI-1.70, 0.74, I2 = 94%, p = 0.44). Subgroup analysis revealed that LPD resulted in increased excretion of proteinuria in patients with type 2 diabetes (1.32, 95% CI 0.17, 2.47, I2 = 86%, p = 0.02). CONCLUSION: The present research showed that LPD was not significantly associated with improvement of renal function in patients with either type 1 or 2 diabetic nephropathy. Although these results do not completely eliminate the possibility that LPD is beneficial for patients with diabetic nephropathy, it does not seem to be significant benefit to renal function.
Asunto(s)
Diabetes Mellitus Tipo 1/dietoterapia , Diabetes Mellitus Tipo 2/dietoterapia , Nefropatías Diabéticas/dietoterapia , Dieta con Restricción de Proteínas , Modelos Estadísticos , Adulto , Índice de Masa Corporal , Diabetes Mellitus Tipo 1/fisiopatología , Diabetes Mellitus Tipo 2/fisiopatología , Nefropatías Diabéticas/fisiopatología , Femenino , Tasa de Filtración Glomerular/fisiología , Humanos , Masculino , Persona de Mediana Edad , Proteinuria/dietoterapia , Proteinuria/fisiopatologíaRESUMEN
We report a 2D layered metal-organic framework (MOF) with wide channels named NUS-1 and its activated analogue NUS-1a composed of Zn4O-like secondary building units and tetraphenylethene (TPE)-based ligand 4,4'-(2,2-diphenylethene-1,1-diyl)dibenzoic acid. Due to its special structure, NUS-1a exhibits unprecedented gas sorption behavior, glass-transition-like phase transition under cryogenic conditions, and responsive turn-on fluorescence to various volatile organic compounds. Our approach using angular ligand containing partially fixed TPE units paves a way toward highly porous MOFs with fluorescence turn-on response that will find wide applications in chemical sensing.
Asunto(s)
Fluorescencia , Compuestos Organometálicos/química , Compuestos Orgánicos Volátiles/química , Adsorción , Modelos Moleculares , Espectrometría de Fluorescencia , Propiedades de SuperficieRESUMEN
Osteogenesis is a complex multilevel process regulated by multiple genes. The GATA binding protein 4 (GATA4) gene has been extensively studied for its pivotal role in bone genesis and bone differentiation. However, its relationship with the growth traits of Shaanbei white cashmere (SBWC) and Guizhou black (GB) goats remains unclear. This work aims to investigate the potential influence of genetic mutations in the GATA4 gene on the growth traits goats. Thus, two Insertion/deletion (InDel) polymorphisms (8-bp-InDel and 9-bp-InDel) were screened and detected in a total of 1161 goats (including 980 SBWC goats and 181 GB goats) using PCR and agarose gel electrophoresis. The analyses revealed that there were two genotypes (ID and DD) for these two loci. In SBWC goats, 8-bp-InDel and 9-bp-InDel loci were significantly associated with heart girth (HG) and hip width (HW). Notably, individuals with DD genotype of 8-bp-InDel locus were superior while those with DD genotype of 9-bp-InDel locus were inferior. Correlation analyses of the four combined genotypes revealed significant associations with cannon circumference (CC), body height (BH), HG and HW. This work provides a foundation for the application of molecular marker-assisted selection (MAS) in goat breeding programs. Furthermore, the findings highlight the potential of the GATA4 gene and its genetic variations as valuable indicators for selecting goats with desirable growth traits.
Asunto(s)
Cabras , Mutación INDEL , Animales , Genotipo , Cabras/genética , Mutación , FenotipoRESUMEN
Accelerated surface redox reaction and regulated carrier separation are the crux to the development of highly reactive oxide semiconductors for efficient photoelectrochemical water splitting. Here, we have selected Nb2O5 materials that combine unique surface acidity and semiconductor properties, and first used surface phosphorylation to change its surface acidic sites (Lewis and Brønsted acidic sites) to achieve efficient photoelectrochemical water splitting. The resulting photoanode born from this strategy exhibits a high photocurrent density of 0.348 mA/cm2 at 1.23 VRHE, which is about 2-fold higher than that of the bare Nb2O5, and a cathodic shift of 60 mV. Detailed experimental results show that the large increase in the Lewis acidic site can effectively modulate the electronic structure of the active sites involved in catalysis in [NbO5] polyhedra and promote the activation of lattice oxygen. As a result, higher redox properties and the ability to inhibit carrier recombination are exhibited. In addition, the weakening of the Brønsted acidic site drives the reduction of protons in the oxygen evolution reaction (OER) and accelerates the reaction kinetics. This work advances the development of efficient photoelectrochemical water splitting on photoanodes driven by the effective use of surface acidity and provides a strategy for enhancing redox capacity to achieve highly active photoanodes.
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Background: The hippocampal abundant transcript 1 (HIAT1) gene, also known as major facilitator superfamily domain-containing 14A (MFSD14A), encodes for a transmembrane transporter protein and has been previously shown to be associated with milk production in buffalo and sheep breeds, as well as growth traits in chicken and goats. However, tissue level distribution of the ovine HIAT1 gene, as well as its effect on body morphometric traits in sheep, has yet to be studied. Methods: The HIAT1 mRNA expression profile of Lanzhou fat-tailed (LFT) sheep was determined by quantitative real-time PCR (qPCR). A total of 1498 sheep of three indigenous Chinese sheep breeds were PCR-genotyped for polymorphisms of HIAT1 gene. Student's t-test was used to observe the association between the genotype and sheep morphometric traits. Results: HIAT1 was widely expressed in all examined tissues, and was particularly abundant in the testis of male LFT sheep. Additionally, a 9-bp insertion mutation (rs1089950828) located within the 5'-upstream region of HIAT1 was investigated in Luxi black-headed (LXBH) sheep and Guiqian semi-fine wool (GSFW) sheep. The wildtype allele frequency 'D' was found to be more prevalent than that of the mutant allele 'I'. Furthermore, low genetic diversity was confirmed in all sampled sheep populations. Subsequent association analyses indicated an association between the 9-bp InDel mutation of interest and the morphometric traits of LXBH and GSFW sheep. Furthermore, yearling ewes with a heterozygous genotype (ID) demonstrated smaller body sizes, while yearling rams and adult ewes with the heterozygous genotype were found to have overall better growth performance. Conclusion: These findings imply that functional InDel polymorphism (rs1089950828) has the potential to be utilized for marker-assisted selection (MAS) of growth traits in domestic Chinese sheep populations.
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As a member of the SNX family, the goat sorting nexin 29 (SNX29) is initially identified as a myogenesis gene. Therefore, this study aimed to examine the polymorphism in the SNX29 gene and its association with growth traits. In this study, we used an online platform to predict the structures of the SNX29 protein and used quantitative real-time PCR to detect potential copy number variation (CNV) in Shaanbei white cashmere (SBWC) goats (n = 541), Guizhou black (GB) goats (n = 48), and Nubian (NB) goats (n = 39). The results showed that goat SNX29 protein belonged to non-secretory protein. Then, five CNVs were detected, and their association with growth traits was analyzed. In SBWC goats, CNV1, CNV3, CNV4, and CNV5 were associated with chest width and body length (P < 0.05). Among them, the CNV1 individuals with gain and loss genotypes were superior to those individuals with a median genotype, but CNV4 and CNV5 of individuals with the median genotype were superior to those with the loss and gain genotypes. In addition, individuals with the gain genotype had superior growth traits in CNV3. In brief, this study suggests that the CNV of SNX29 can be used as a molecular marker in goat breeding.
RESUMEN
Copy number variations (CNV) contribute significantly to genetic variations. Numerous studies have shown that CNV affects phenotypic traits in livestock. The SMAD family member 2 (SMAD2) is a leading candidate gene in reproduction and has a crucial effect on litter size. Additionally, SMAD2 is also required for male reproduction and influences male germ cell development. However, there are no reports on investigating the effect of CNVs in the SMAD2 gene on reproductive traits in goat. Therefore, the goal of this study was to explore associations between CNV of the SMAD2 gene and litter size and semen quality in Shaanbei white cashmere (SBWC) goats. In this study, two CNVs within the SMAD2 were identified in 352 SBWC goats (50 males and 302 females). The association analysis revealed that only CNV2 was significantly associated with female goat first-born litter size (P = 3.59 × 10-4), male semen concentration (P < 0.01), ejaculation volume, live sperm count, and sperm deformity rate (P < 0.05). In terms of phenotypic performance, the individuals with loss genotypes outperformed those with other genotypes. CNV1 and CNV2 genotype combinations containing their dominant genotypes were also associated with goat litter size (P = 1.7 × 10-5), but no differences in semen quality were found. In summary, CNV2 of the SMAD2 gene is useful for molecular marker-assisted selection breeding, as it is associated with essential goat reproductive traits.
Asunto(s)
Variaciones en el Número de Copia de ADN , Análisis de Semen , Embarazo , Masculino , Femenino , Animales , Tamaño de la Camada/genética , Análisis de Semen/veterinaria , Cabras/genética , SemenRESUMEN
Platelet-derived growth factor D (PDGFD) is a member of the PDGF gene family, and it plays an important role in the regulation of adipocyte development in mammals. Furthermore, genome-wide association studies (GWAS) have previously identified it as a candidate gene associated with fleece fiber variation, body size, and the fat-tail phenotype in domestic Chinese sheep. In this study, a total of 1919 indigenous Chinese sheep were genotyped to examine the association between nucleotide sequence variations in PDGFD and body morphology. Our results detected both a 14 bp insertion in intron 2 and a 13 bp deletion in intron 4 of PDGFD. Moreover, these two InDel loci had low to moderate polymorphism. Notably, the 13 bp deletion mutation of PDGFD was found to significantly affect sheep body size. Yearling rams in the Luxi black-headed sheep (LXBH) containing a heterozygous genotype (insertion/deletion, ID) were found to have larger body length, chest depth, and body weight than those with wild genotypes. Furthermore, adult ewes in the Guiqian semi-fine wool sheep (GSFW) containing a homozygous mutation (deletion/deletion, DD) were found to have smaller chest width than their peers. Moreover, yearling ewes in this group with the same homozygous mutation were found to have lower body weight, chest width, and cannon circumference compared to those of other individuals. This study demonstrates that PDGFD InDel polymorphisms have the potential to be effective molecular markers to improve morphological traits in domestic Chinese sheep.
RESUMEN
Lysine demethylase 3B (KDM3B), a candidate gene associated with bone formation and growth, and differentiation of osteoblast, might affect the animal growth traits. Herein, the insertion/deletion (InDel) of the KDM3B gene was quickly detected in 882 sheep from five breeds using the mathematical expectation (ME) method. The results showed that there were two genotypes of 7-bp variation in KDM3B, including II (insertion/insertion) and ID (insertion/deletion), and the frequency of two genotypes varied among the five sheep breeds. Association analysis results demonstrated that the 7-bp indel was significantly associated with chest depth of LFT sheep (P = 0.012), and body weight (P = 0.006), body height (P = 0.030), chest depth (P = 0.043), chest circumference (P = 0.016), abdominal width (P = 0.035) and height at hip cross (P = 0.022) in LXBH sheep. Moreover, II genotype was the predominant genotype with excellent consistency in sheep growth traits (P < 0.05). Collectively, the above results suggest that this locus can be used as an effective molecular marker to improve the sheep growth traits and provide a scientific basis for the development of sheep breeding.
Asunto(s)
Mutación INDEL , Motivación , Animales , Peso Corporal , Genotipo , Fenotipo , Ovinos/genéticaRESUMEN
Copy number variations (CNVs) have many forms of variation structure, and they play an important role in the research of variety diversity, biological evolution and disease correlation. Since CNVs have a greater impact on gene regulation and expression, more studies are being finalized on CNVs in important livestock and poultry species. The protein phosphatase 3 catalytic subunit alpha (PPP3CA) is a key candidate gene involved in the goat fecundity trait, and has important effects on precocious puberty, estrogen signal transduction pathways and oocyte meiosis. Additionally, PPP3CA also has a dephosphorylation effect in the process of spermatogonial stem cell meiosis and spermatogenesis. So far, there is no research on the relationship between the copy number variations of the PPP3CA gene and reproduction traits. Therefore, the purpose of this study was to determine the association between copy number variations in the goat PPP3CA gene and litter size and semen quality in Shaanbei white cashmere goats (SBWC) (n = 353) and Guizhou Heima goats (n = 64). Based on the association analysis, the results showed that only CNV1 and CNV2 within the PPP3CA gene were distinctly related to the first-birth litter size in female goats (p = 7.6802 × 10-11; p = 5.0895 × 10-9, respectively) and they were also significantly associated with the semen quality of SBWC goats (p < 0.05). In addition, individuals with Loss genotypes demonstrated better phenotypic performance compared to those with other types. Therefore, CNV1 and CNV2 of the PPP3CA gene are potentially useful for breeding, as they are linked to important goat reproduction traits.
RESUMEN
Platelet-derived growth factor (PDGF) family, exert plays a key role in embryonic development, cell proliferation, cell migration, angiogenesis and reproduction. Related studies about GWAS analyses have found that PDGFD significantly affected deposition of tail fat in sheep, but there are no studies on reproduction in animals. In this study, three breed of sheep were used to find insertion/deletion (indel) fragment polymorphism of PDGFD which including Australian white (AUW) sheep (Meat type, n = 932), Guiqian semi-fine wool (GSFW) sheep (wool type, n = 60) and East Friensian milk (EFM) sheep (dairy type, n = 60). Only a 18-bp variation was polymorphic in the study AUW sheep population and the genotypes of different sheep breed are also specific. Moreover, the association analysis indicated that this variant was associated with litter size of AUW sheep in the first parity (p < 0.05). The litter size of II genotype was significantly lower than other genotypes in the first parity (p < 0.05). We also revealed that the PDGFD gene was relatively conservative in eight species, PDGFD mRNA expression in 832 sheep samples implying this gene was related to reproduction traits. Hence, these finding demonstrated the one-cause multipotency of PDGFD gene. Collectively, these results suggest that this indel can be used as an effective marker for sheep breeding.
Asunto(s)
Reproducción , Lana , Animales , Australia , Femenino , Genotipo , Mutación INDEL , Tamaño de la Camada/genética , Embarazo , Reproducción/genética , Ovinos/genéticaRESUMEN
Dynein Axonemal Heavy Chain 1 (DNAH1) encodes proteins which provide structural support for the physiological function and motor structure of spermatozoa (hereafter referred to as sperm) and ova. This study found that three single nucleotide polymorphisms (SNPs), the 27-bp insertion/deletion (InDel) mutations and three exonic copy number variations (CNVs) within DNAH1 were significantly associated with litter size of Shaanbei white cashmere goats (n = 1101). Goats with the wildtypes of these three SNPs had higher litter sizes than other carriers (p < 0.05). II genotype of the 27-bp InDel had the highest litter size compared with ID carriers (p = 0.000022). The gain genotype had the largest litter sizes compared with the loss or medium carriers for the three CNV mutations (p < 0.01). Individuals with the AA-TT-CC-II-M1-M2-M3 and AA-TT-CC-II-G1-G2-M3 combination genotypes had larger litter sizes compared with the other genotypes. This study also showed the DNAH1 expression in mothers of multiple kids was higher than mothers of single kids. These three SNPs, the 27-bp InDel and three CNVs in DNAH1 could be used as molecular markers for the selection of goat reproductive traits.
Asunto(s)
Variaciones en el Número de Copia de ADN , Cabras , Animales , Variaciones en el Número de Copia de ADN/genética , Femenino , Cabras/genética , Cabras/metabolismo , Mutación INDEL/genética , Tamaño de la Camada/genética , Masculino , Embarazo , ARN Mensajero/genética , ARN Mensajero/metabolismoRESUMEN
The Booroola fecundity (FecB) gene is a major fertility-related gene first identified in Booroola sheep. Numerous studies have investigated whether the FecB gene is a major fecundity gene in goats or whether there are other genes that play a critical role in goat fertility. Nevertheless, little attention has been paid to the role of the FecB gene in the body morphometric traits of goats, despite the positive relationship discerned between litter size and growth. We identified five copy number variations (CNVs) within the FecB gene in 641 goats, including 318 Shaanbei white cashmere (SBWC) goats, 203 Guizhou Heima (GZHM) goats, and 120 Nubian goats, which exhibited different distributions among these populations. Our results revealed that these five CNVs were significantly associated with goat morphometric traits (p < 0.05). The normal type of CNV3 was the dominant type and displayed superior phenotypes in both litter size and morphometric traits, making it an effective marker for goat breeding. Consequently, LD blocks in the region of 10 Mb upstream and downstream from FecB and potential transcription factors (TFs) that could bind with the CNVs were analyzed via bioinformatics. Although no significant LD block was detected, our results illustrated that these CNVs could bind to growth-related TFs and indirectly affect the growth development of the goats. We identified potential markers to promote litter size and growth, and we offer a theoretical foundation for further breeding work.
RESUMEN
The study of the BMPRIB gene polymorphisms has become of great importance in sheep, because it provides critical genetic tools to improve reproductive efficiency in ewes. The purposes of this study were: to assess the genetic diversity of the 90-bp deletion polymorphism within the BMPRIB gene in 52 various sheep breeds; to examine its linkage to the p.Q249R variant in the same gene, as well as to analyze its association with litter size. Herein, a total of 2313 various sheep individuals were used to detect the presence of the 90-bp deletion, among them the six breeds (Australian White (AUW), Small-Tail Han (STH), Guiqian semi-fine wool (GQSFW) sheep, etc.) were genotyped using PCR-based genotyping technology (n = 1636), and 47 breeds worldwide (including STH sheep) were genotyped via whole genome sequencing (WGS) method (n = 677). Genotyping outcomes revealed that the polymorphism was segregated in 45 of 52 breeds with varying frequencies (0.05-0.93). It is pertinent to note that the 90-bp deletion is not linked to the famous p.Q249R SNP in population of interest, except in high prolific Hu sheep. The association analysis indicated that the Del-90-bp variant showed no significant association (P > 0.05) with litter size in AUW (n = 625), GQSFW (n = 75) and STH (n = 38) ewes. Nevertheless, further investigation is needed on the importance of the Del-90-bp variant as a DNA marker that could possibly serve as an additional selection criterion in breeding ewes with high productivity.