Animal genetics最新文献_第5页

Identification of differentially expressed genes and polymorphisms related to intramuscular oleic-to-stearic fatty acid ratio in pigs 鉴定与猪肌肉内油酸与硬脂酸脂肪酸比例有关的差异表达基因和多态性。

IF 1.8 3区生物学

Animal genetics Pub Date : 2024-11-26 DOI: 10.1111/age.13491

Jesús Valdés-Hernández, Yuliaxis Ramayo-Caldas, Magí Passols, Lourdes Criado-Mesas, Anna Castelló, Armand Sánchez, Josep M. Folch

{"title":"Identification of differentially expressed genes and polymorphisms related to intramuscular oleic-to-stearic fatty acid ratio in pigs","authors":"Jesús Valdés-Hernández, Yuliaxis Ramayo-Caldas, Magí Passols, Lourdes Criado-Mesas, Anna Castelló, Armand Sánchez, Josep M. Folch","doi":"10.1111/age.13491","DOIUrl":"10.1111/age.13491","url":null,"abstract":"The intramuscular oleic-to-stearic fatty acid ratio (C18:1n-9/C18:0) is an important indicator of the biosynthesis and desaturation of fatty acids in muscle. By using an RNA-Seq approach in muscle samples from 32 BC1_DU (25% Iberian and 75% Duroc) pigs with divergent values (high: H and low: L) of C18:1n-9/C18:0 fatty acids ratio, a total of 81 differentially expressed genes (DEGs) were identified. Functional analyses of DEGs indicate that mainly peroxisome proliferator-activated receptor signaling pathway (associated genes: PPARG, SCD, PLIN1, and FABP3) was overrepresented. Notably, SCD is directly involved in the conversion of C18:0 to C18:1n-9, and PPARG is a transcription factor regulating lipid metabolism genes, including SCD. However, other DEGs (e.g., ACADVL, FADS3, EPHB2, HGFAC, NGFR, NR0B2, MDH1, MMAA, PPP1R1B, SFRP5, RAB30, and TRARG1) are plausible candidate genes to explain the phenotypic differences of the C18:1n-9/C18:0 ratio. Interestingly, seven genetic variants within the SCD (including the well-known AY487830:g.2228T>C SNP and other novel genotyped polymorphisms) are associated with two haplotypes. Although the haplotypes are segregating at different frequencies in the H and L groups, they do not fully explain the desaturation ratios or the SCD expression levels. A more complex model, including polyunsaturated fatty acids such as C18:2n-6, C20:4n-6, and C18:3n-3, is suggested to explain the regulation of the C18:1n-9/C18:0 desaturation ratio in porcine muscle.","PeriodicalId":7905,"journal":{"name":"Animal genetics","volume":"56 1","pages":""},"PeriodicalIF":1.8,"publicationDate":"2024-11-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/age.13491","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142724808","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Identification of a de novo missense variant in the BRI3BP gene in a Holstein calf with congenital cardiac malformation and carpus valgus 在一头患有先天性心脏畸形和腕外翻的荷斯坦小牛身上发现了 BRI3BP 基因中的一个新的错义变异。

IF 1.8 3区生物学

Animal genetics Pub Date : 2024-11-26 DOI: 10.1111/age.13494

Chang He, Llorenç Grau-Roma, Robin Schmid, Irene M. Häfliger, Mireille Meylan, Cord Drögemüller, Joana G. P. Jacinto

{"title":"Identification of a de novo missense variant in the BRI3BP gene in a Holstein calf with congenital cardiac malformation and carpus valgus","authors":"Chang He, Llorenç Grau-Roma, Robin Schmid, Irene M. Häfliger, Mireille Meylan, Cord Drögemüller, Joana G. P. Jacinto","doi":"10.1111/age.13494","DOIUrl":"10.1111/age.13494","url":null,"abstract":"Congenital malformations in cattle pose a diagnostic challenge with limited treatment options and are often associated with a guarded prognosis. The aim of this study was to characterize the clinicopathological phenotype of a viable calf with complex congenital heart defects and carpus valgus, and to identify a possible genetic cause using a whole genome sequencing trio approach. A 3-month-old female Holstein calf was referred for respiratory distress and congenital carpal deviation. Clinicopathologic findings included ventricular septal defect, ventricular dilatation, atrioventricular valve dysplasia, an overriding aorta, and unilateral carpus valgus. Genetic analysis revealed a private heterozygous missense variant in BRI3BP affecting an evolutionarily conserved residue (c.478G>A; p.Val160Ile). The variant was predicted to be deleterious and was present only in the affected calf and was absent in more than 5100 sequenced bovine genomes, including both parents, indicating a de novo origin. This study implicates an important role for the uncharacterized BRI3 binding protein in cardiac and possibly also bone development. By presenting the first BRI3BP-related disease model, this study demonstrates the potential to gain new insights into the function of individual genes by using phenotypically well-studied spontaneous mutants in large animals, and it provides a novel candidate gene for similar conditions in humans.","PeriodicalId":7905,"journal":{"name":"Animal genetics","volume":"56 1","pages":""},"PeriodicalIF":1.8,"publicationDate":"2024-11-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11666921/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142724803","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Comparative genome-wide association study of single- and multi-locus models with ontology analysis for enhancing Hanwoo cow reproductive traits 利用本体分析进行单病灶和多病灶模型的全基因组关联比较研究，以提高汉和奶牛的繁殖性状。

IF 1.8 3区生物学

Animal genetics Pub Date : 2024-11-26 DOI: 10.1111/age.13493

Ji Yeong Kim, Eun Ho Kim, Ho Chan Kang, Cheol Hyun Myung, Hyun Tae Lim

{"title":"Comparative genome-wide association study of single- and multi-locus models with ontology analysis for enhancing Hanwoo cow reproductive traits","authors":"Ji Yeong Kim, Eun Ho Kim, Ho Chan Kang, Cheol Hyun Myung, Hyun Tae Lim","doi":"10.1111/age.13493","DOIUrl":"10.1111/age.13493","url":null,"abstract":"The reproductive characteristics of Hanwoo play a significant role in farm profitability by decreasing the generation interval. This study analyzed 1015 primiparous and 916 multiparous cows using a genome-wide association study with both single-locus (GEMMA, GCTA) and multi-locus models (FarmCPU, BLINK). A significant marker for age at first service was identified across all methods. For age at first conception, GEMMA identified two markers, while FarmCPU and BLINK identified 14 and two markers, respectively. Regarding age at first calving, GEMMA identified two markers, and FarmCPU and BLINK found 15 and two markers, respectively. In multiparous cows, except for days open, one marker for gestation length and two markers for calving interval were identified in the multi-locus models (FarmCPU and BLINK). Additionally, one marker for the number of services per conception was identified using GEMMA. Key candidate genes included PLCB1 (maintaining pregnancy), MUC1 (fetal development), and ADCY5 (associated with fetal birth), while TXNL1 regulates embryo implantation timing. Gene ontology functions associated with embryo implantation and placental regulation were also confirmed (GO:0046875). Although the multi-locus models identified a greater number of markers and candidate genes, there was no overlap with the results from the single-locus models. The multi-locus models showed enhanced detection power, but slight inflation in test statistics (λ values) necessitates cautious interpretation to avoid false positives. Thus, a combination of both models is recommended to improve reproductive efficiency in cows, providing valuable insights into the genetic aspects of reproductive traits.","PeriodicalId":7905,"journal":{"name":"Animal genetics","volume":"56 1","pages":""},"PeriodicalIF":1.8,"publicationDate":"2024-11-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142724786","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Genome-wide scans for signatures of selection in North African sheep reveals differentially selected regions between fat- and thin-tailed breeds 对北非绵羊选择特征的全基因组扫描揭示了肥尾绵羊和细尾绵羊之间不同的选择区域。

IF 1.8 3区生物学

Animal genetics Pub Date : 2024-11-21 DOI: 10.1111/age.13487

Slim Ben-Jemaa, Ghazi Yahyaoui, Samia Kdidi, Afef Najjari, Johannes A. Lenstra, Salvatore Mastrangelo, Semir B. S. Gaouar, Joram M. Mwacharo, Touhami Khorchani, Mohamed H. Yahyaoui

{"title":"Genome-wide scans for signatures of selection in North African sheep reveals differentially selected regions between fat- and thin-tailed breeds","authors":"Slim Ben-Jemaa, Ghazi Yahyaoui, Samia Kdidi, Afef Najjari, Johannes A. Lenstra, Salvatore Mastrangelo, Semir B. S. Gaouar, Joram M. Mwacharo, Touhami Khorchani, Mohamed H. Yahyaoui","doi":"10.1111/age.13487","DOIUrl":"10.1111/age.13487","url":null,"abstract":"North Africa counts several sheep breeds that can be categorized as fat- and thin-tailed. The former are well adapted to dryland environments. In this study, we used 50K genome-wide single nucleotide polymorphism profiles from 462 animals representing nine fat-tailed and 13 thin-tailed sheep breeds across North Africa to localize genomic regions putatively under differential selective pressures between the two types of breeds. We observed genetic clines from east to west and from north to south. The east–west cline separates the fat- and thin-tailed breeds, with the exception of the fat-tailed Algerian Barbarine, which is closely related to a genetically homogeneous cluster of Moroccan and Algerian thin-tailed breeds. Using a combination of three extended haplotype homozygosity tests, we detected seven candidate regions under divergent selection between fat- and thin-tailed sheep. The strongest selection signals reside on chromosomes 1 and 13, with the latter spanning the BMP2 gene, known to be associated with the fat-tail phenotype. Overall, the candidate regions under selection in fat-tailed sheep overlap with genes associated with adaptation to desert-like environments including adipogenesis, as well as heat and drought tolerance. Our results confirm previously reported candidate genes known to be a target of fat-tail selection in sheep but also reveal novel candidate genes specifically under selection in North African populations.","PeriodicalId":7905,"journal":{"name":"Animal genetics","volume":"56 1","pages":""},"PeriodicalIF":1.8,"publicationDate":"2024-11-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/age.13487","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142685848","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

History and genetic diversity of African sheep: Contrasting phenotypic and genomic diversity 非洲绵羊的历史和遗传多样性：表型和基因组多样性的对比。

IF 1.8 3区生物学

Animal genetics Pub Date : 2024-11-19 DOI: 10.1111/age.13488

Anne Da Silva, Abulgasim Ahbara, Imen Baazaoui, Slim Ben Jemaa, Yinhong Cao, Elena Ciani, Edgar Farai Dzomba, Linda Evans, Elisha Gootwine, Olivier Hanotte, Laura Harris, Meng-Hua Li, Salvatore Mastrangelo, Ayao Missohou, Annelin Molotsi, Farai C. Muchadeyi, Joram M. Mwacharo, Gaëlle Tallet, Pascal Vernus, Stephen J. G. Hall, Johannes A. Lenstra

{"title":"History and genetic diversity of African sheep: Contrasting phenotypic and genomic diversity","authors":"Anne Da Silva, Abulgasim Ahbara, Imen Baazaoui, Slim Ben Jemaa, Yinhong Cao, Elena Ciani, Edgar Farai Dzomba, Linda Evans, Elisha Gootwine, Olivier Hanotte, Laura Harris, Meng-Hua Li, Salvatore Mastrangelo, Ayao Missohou, Annelin Molotsi, Farai C. Muchadeyi, Joram M. Mwacharo, Gaëlle Tallet, Pascal Vernus, Stephen J. G. Hall, Johannes A. Lenstra","doi":"10.1111/age.13488","DOIUrl":"10.1111/age.13488","url":null,"abstract":"Domesticated sheep have adapted to contrasting and extreme environments and continue to play important roles in local community-based economies throughout Africa. Here we review the Neolithic migrations of thin-tailed sheep and the later introductions of fat-tailed sheep into eastern Africa. According to contemporary pictorial evidence, the latter occurred in Egypt not before the Ptolemaic period (305–25 BCE). We further describe the more recent history of sheep in Egypt, the Maghreb, west and central Africa, central-east Africa, and southern Africa. We also present a comprehensive molecular survey based on the analysis of 50 K SNP genotypes for 59 African breeds contributed by several laboratories. We propose that gene flow and import of fat-tailed sheep have partially overwritten the diversity profile created by the initial migration. We found a genetic contrast between sheep north and south of the Sahara and a west–east contrast of thin- and fat-tailed sheep. There is no close relationship between African and central and east Asian fat-tailed breeds, whereas we observe within Africa only a modest effect of tail types on breed relationships.","PeriodicalId":7905,"journal":{"name":"Animal genetics","volume":"56 1","pages":""},"PeriodicalIF":1.8,"publicationDate":"2024-11-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11666867/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142674939","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Investigation of the effect of missense mutations in AHR and DNAH11 on feed conversion ratio and average daily residual feed intake in Duroc, Landrace and Yorkshire pigs 研究 AHR 和 DNAH11 的错义突变对杜洛克猪、陆地猪和约克夏猪的饲料转化率和日均剩余饲料摄入量的影响。

IF 1.8 3区生物学

Animal genetics Pub Date : 2024-11-19 DOI: 10.1111/age.13492

Jiahong Sun, Emil Ibragimov, Maria Gracia Luigi-Sierra, Merete Fredholm, Peter Karlskov-Mortensen

{"title":"Investigation of the effect of missense mutations in AHR and DNAH11 on feed conversion ratio and average daily residual feed intake in Duroc, Landrace and Yorkshire pigs","authors":"Jiahong Sun, Emil Ibragimov, Maria Gracia Luigi-Sierra, Merete Fredholm, Peter Karlskov-Mortensen","doi":"10.1111/age.13492","DOIUrl":"10.1111/age.13492","url":null,"abstract":"Feed efficiency (FE) in pigs is an important factor in the profitability of pig farming operations. It refers to the ability of a pig to convert the feed it consumes into body weight. We used two metrics to measure FE: feed conversion ratio and average daily residual feed intake. A previous genome-wide association study and transcriptome study in crossbred pigs identified two QTL regions on SSC9 associated with residual feed intake and pointed out two candidate genes of interest: (a) the gene encoding the Aryl Hydrocarbon Receptor gene (AHR) transcription factor; and (b) the Dynein, Axonemal, Heavy Polypeptide 11 gene (DNAH11). The previous study identified missense mutations in both genes leading to a conservative substitution of glycine to cysteine in AHR (AHR_rs339939442) and two non-conservative substitutions in DNAH11, where arginine is replaced by threonine (DNAH11_rs325475644) and alanine is replaced by threonine (DNAH11_rs346074031). We have now genotyped the missense mutations in independent cohorts of 107 Duroc, 155 Landrace and 160 Yorkshire pigs to substantiate further if these variants directly impact FE-related phenotypes. We verified that allele T of AHR_rs339939442 in AHR improves FE in Yorkshire pigs. Genotype GG of AHR_rs339939442 was fixed in Duroc pigs. We also confirmed that the variants rs325475644 and rs346074031 in DNAH11 did not affect FE. The findings contribute valuable insights into the genetic mechanisms governing FE in pigs, potentially offering contributions for future enhancements of FE.","PeriodicalId":7905,"journal":{"name":"Animal genetics","volume":"56 1","pages":""},"PeriodicalIF":1.8,"publicationDate":"2024-11-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142674941","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Trisomy 26 in a Holstein calf with disorders of sex development 一头荷斯坦犊牛的 26 三体综合征伴有性发育障碍。

IF 1.8 3区生物学

Animal genetics Pub Date : 2024-11-03 DOI: 10.1111/age.13489

Markus Freick, Joana G. P. Jacinto, Irene M. Häfliger, Jim Weber, Holger Behn, Ruben Schreiter, Cord Drögemüller

{"title":"Trisomy 26 in a Holstein calf with disorders of sex development","authors":"Markus Freick, Joana G. P. Jacinto, Irene M. Häfliger, Jim Weber, Holger Behn, Ruben Schreiter, Cord Drögemüller","doi":"10.1111/age.13489","DOIUrl":"10.1111/age.13489","url":null,"abstract":"Hypospadias occurs sporadically in male livestock and is characterized by a non-fused urethra during fetal development. In this study, perineal hypospadias, a bifid scrotum, penile hypoplasia, and bilateral abdominal cryptorchidism were diagnosed in a neonatal Holstein male calf. Septicemia was also suspected due to hypothermia, blurred conjunctivae, and loss of sucking and swallowing reflexes. Gross pathology revealed that both testicles were located intraabdominally caudally to the kidneys. Histopathological examination of the hypospadias showed a urothelium-lined mucosal fold and parts of the corpus cavernosum penis and prepuce in the subcutis. Whole genome sequencing was performed on the affected calf. Analysis of short-read coverage depth along the chromosomes identified an entire extra copy of chromosome 26. Based on the comparison of available variant calling data from the sire, the identified trisomy 26 is due to non-disjunction of homologous chromosomes during the generation of paternal gametes. We have shown for the first time an association between bovine hypospadias and trisomy 26, which adds to the understanding of variation in fetal male sexual development.","PeriodicalId":7905,"journal":{"name":"Animal genetics","volume":"56 1","pages":""},"PeriodicalIF":1.8,"publicationDate":"2024-11-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11666885/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142567861","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Exploring the importance of predicted camel NRAP exon 4 for environmental adaptation using a mouse model 利用小鼠模型探索预测的骆驼 NRAP 外显子 4 对环境适应的重要性。

IF 1.8 3区生物学

Animal genetics Pub Date : 2024-10-30 DOI: 10.1111/age.13490

Sung-Yeon Lee, Bo-Young Lee, Byeonghwi Lim, Rasel Uzzaman, Goo Jang, Kwan-Suk Kim

{"title":"Exploring the importance of predicted camel NRAP exon 4 for environmental adaptation using a mouse model","authors":"Sung-Yeon Lee, Bo-Young Lee, Byeonghwi Lim, Rasel Uzzaman, Goo Jang, Kwan-Suk Kim","doi":"10.1111/age.13490","DOIUrl":"10.1111/age.13490","url":null,"abstract":"Camels possess exceptional adaptability, allowing them to withstand extreme temperatures in desert environments. They conserve water by reducing their metabolic rate and regulating body temperature. The heart of the camel plays a crucial role in this adaptation, with specific genes expressed in cardiac tissue that are essential for mammalian adaptation, regulating cardiac function and responding to environmental stressors. One such gene, nebulin-related-anchoring protein (NRAP), is involved in the assembly of myofibrils and the transmission of force within the heart. In our study of the NRAP gene across various livestock species, including three camel species, we identified a camel-specific exon region in the NRAP transcripts. This additional exon (exon 4) contains an open reading frame predicted in camels. To investigate its function, we generated knock-in mice expressing camel NRAP exon 4. These ‘camelized mice’ exhibited normal phenotypic characteristics compared with wild-type mice but showed elevated body temperatures under cold stress. Transcriptome analyses of the hearts from camelized mice under cold stress revealed differentially expressed inflammatory cytokine genes, known to influence cardiac function by modulating the contractility of cardiac muscle cells. We propose further investigations utilizing these camelized mice to explore these findings in greater depth.","PeriodicalId":7905,"journal":{"name":"Animal genetics","volume":"56 1","pages":""},"PeriodicalIF":1.8,"publicationDate":"2024-10-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11666923/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142543222","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Intragenic duplication disrupting the reading frame of MFSD8 in Small Swiss Hounds with neuronal ceroid lipofuscinosis 小瑞士猎犬神经细胞类色素沉着症患者体内MFSD8阅读框的基因内重复。

IF 1.8 3区生物学

Animal genetics Pub Date : 2024-10-22 DOI: 10.1111/age.13485

Stefan J. Rietmann, Shenja Loderstedt, Kaspar Matiasek, Ingmar Kiefer, Vidhya Jagannathan, Tosso Leeb

{"title":"Intragenic duplication disrupting the reading frame of MFSD8 in Small Swiss Hounds with neuronal ceroid lipofuscinosis","authors":"Stefan J. Rietmann, Shenja Loderstedt, Kaspar Matiasek, Ingmar Kiefer, Vidhya Jagannathan, Tosso Leeb","doi":"10.1111/age.13485","DOIUrl":"10.1111/age.13485","url":null,"abstract":"Neuronal ceroid lipofuscinosis (NCL) represents a heterogenous group of lysosomal storage diseases resulting in progressive neurodegeneration. We investigated two Small Swiss Hound littermates that showed progressive ataxia and loss of cognitive functions and vision starting around the age of 12 months. Both dogs had to be euthanized a few months after the onset of disease owing to the severity of their clinical signs. Pathological investigation of one affected dog revealed cerebral and cerebellar atrophy with cytoplasmic accumulation of autofluorescent material in degenerating neurons. The clinical signs in combination with the characteristic histopathology led to a tentative diagnosis of NCL. In the subsequent genetic investigation, the genome of one affected dog was sequenced. This revealed a duplication of 18 819 bp within the MFSD8 gene. The duplication breakpoints were located in intron 3 and exon 12 of the gene and were predicted to disrupt the reading frame. Both affected dogs carried the duplication in a homozygous state and there was perfect cosegregation of the genotypes with the phenotype in a large pedigree, consistent with autosomal recessive inheritance. MFSD8 loss-of-function variants are a known cause of NCL7 in human patients, dogs and other mammalian species. The existing knowledge on MFSD8 together with the experimental data strongly suggests that the identified intragenic MFSD8 duplication caused the disease in the Small Swiss Hounds. These results allow their diagnosis to be refined to NCL7 and enable genetic testing in the breed to avoid further unintentional carrier × carrier matings.","PeriodicalId":7905,"journal":{"name":"Animal genetics","volume":"55 6","pages":"801-809"},"PeriodicalIF":1.8,"publicationDate":"2024-10-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/age.13485","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142456314","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Association of an EGFLAM non-synonymous polymorphism with marbling in Limousin cattle 利木赞牛的 EGFLAM 非同义多态性与大理石纹的关系。

IF 1.8 3区生物学

Animal genetics Pub Date : 2024-10-21 DOI: 10.1111/age.13486

Moïse Kombolo-Ngah, Sébastien Taussat, Maureen Féménia, Lionel Forestier, Jean-François Hocquette, Dominique Rocha

引用次数: 0