Animal genetics最新文献

{"title":"Development and Characterization of a 100 K SNP Panel Through Genotyping by Target Sequencing in Asian Water Buffalo (Bubalus bubalis).","authors":"Jingfang Si, Kun Li, Li Li, Md Yousuf Ali Khan, Md Shamsul Alam Bhuiyan, Yi Zhang","doi":"10.1002/age.70102","DOIUrl":"10.1002/age.70102","url":null,"abstract":"<p><p>High-throughput and cost-effective genotyping technologies are essential for animal genomics and breeding research. In this study, we developed a 100 K single nucleotide polymorphism (SNP) panel for genomic screening of Asian water buffalo using genotyping by target sequencing (GBTS). The panel consists of 101 032 SNPs, selected to include highly polymorphic variants from an existing SNP array-the Axiom 90 K Genotyping Array (16.6%), moderate- to high-impact variants in protein-coding genes (20.3%), swamp- and river-specific variants (10.6%), variants in functional genes associated with economic traits (0.9%), variants located on the X chromosome (0.6%) as well as gap-filling variants (51.0%). To validate the panel, we genotyped 78 buffaloes using the panel as well as whole-genome sequencing (WGS). The panel achieved an average call rate of 99.77%, with a mean genotype concordance of 99.43% across five replicate samples. Population genomics analyses using the panel yielded results highly consistent with those obtained from WGS. When using WGS data as the reference panel, the 100 K SNP panel achieved high imputation accuracy across three buffalo populations-0.89 in dairy river, 0.84 in local river, and 0.81 in swamp buffalo. After applying a stringent quality-control filter (DR² > 0.9), the retained variants exhibited mean imputation accuracy > 0.90 in all populations while preserving a substantial number of high-quality SNPs (10.40, 5.59, and 2.50 million SNPs, respectively). Overall, the newly designed 100 K SNP panel represents a robust, high-throughput tool for genome-wide genotyping, facilitating the conservation of genetic resources and enabling sustainable genetic improvement of water buffalo populations.</p>","PeriodicalId":7905,"journal":{"name":"Animal genetics","volume":"57 2","pages":"e70102"},"PeriodicalIF":2.1,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147687859","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}

{"title":"Genetic Diversity and Population Structure of Squalus cf. mitsukurii (Chondrichthyes: Squalidae) Revealed by ddRAD Sequencing","authors":"Aisni Mayumi Corrêa de Lima Adachi,&nbsp;Ailton Amarante Ariza,&nbsp;Giovana da Silva Ribeiro,&nbsp;Pollyana Christine Gomes Roque,&nbsp;Matheus Marcos Rotundo,&nbsp;Marcelo Vianna,&nbsp;Gabriela Delpiani,&nbsp;Sergio Matias Delpiani,&nbsp;Juan Martín Díaz de Astarloa,&nbsp;Claudio Oliveira,&nbsp;Fausto Foresti,&nbsp;Vanessa Paes da Cruz","doi":"10.1002/age.70096","DOIUrl":"10.1002/age.70096","url":null,"abstract":"<p>Assessing genetic structure across ocean basins is essential to understand connectivity and guide conservation in data-deficient open-water sharks. In this study, we examined the population genomics of <i>Squalus</i> cf. <i>mitsukurii</i> by analyzing tissue samples collected from two distant regions: California, USA (Pacific Ocean) and Pernambuco, Brazil (Southwestern Atlantic Ocean). Using double-digest restriction site-associated DNA sequencing (ddRADseq), we generated 33 480 939 raw reads across 28 individuals and retained 1118 high-quality single nucleotide polymorphisms (SNPs) after stringent filtering. Genetic diversity was moderate (He = 0.211–0.244), with low inbreeding levels (<i>F</i>_is = −0.005–0.106). DAPC and pairwise <i>F</i>_st analyses revealed moderate genetic structure, indicating limited gene flow between the sampled populations. This study provides the first genomic evidence of population differentiation in <i>S.</i> cf. <i>mitsukurii</i> across these regions. Our findings underscore the importance of genome-wide data and informing regionally conservation strategies, especially for exploited species commonly misidentified in commercial landings and lacking population management.</p>","PeriodicalId":7905,"journal":{"name":"Animal genetics","volume":"57 2","pages":""},"PeriodicalIF":2.1,"publicationDate":"2026-03-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13037365/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147580289","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}

{"title":"Haplotype Variation of TBXT Enhancer Contributes to Tail Length Diversity of Sheep Through Modulation of Gene Expression","authors":"Jing-Ping Li,&nbsp;Zhong-Hui Li,&nbsp;Chen-Xi Liu,&nbsp;Qian-Wen Zhang,&nbsp;Jia-Jun Wang,&nbsp;Bing Han,&nbsp;Ming-Jun Liu,&nbsp;Wen-Rong Li","doi":"10.1002/age.70089","DOIUrl":"10.1002/age.70089","url":null,"abstract":"<div>\u0000 \u0000 <p>The T-bound notochord enhancer (TNE) is a conserved cis-regulatory element that governs the expression of T-box transcription factor T (<i>TBXT</i>) to regulate tail bud patterning and notochord formation in vertebrates. However, the role of ovine TNE (oTNE) variations in tail divergence remains unclear. Here, we cloned and analyzed oTNE sequences from 575 sheep representing five groups with diverse tail patterns. The distinct haplotypes, which consisted of 19 mutations exhibiting strong linkage disequilibrium, were constructed. Notably, a unique oTNE haplotype (H001) was predominantly distributed in tailless fat-rumped sheep, while H002 and H003 collectively accounted for the majority of haplotypes in long-tailed breeds. To further validate this association, we measured caudal vertebral number by X-ray imaging and tail length manually in a segregating F2 population (<i>n</i> = 79) derived from the cross of Texel ram (long-tailed) with Kazakh ewe (fat-rumped tailless), revealing that the oTNE haplotypes were associated with caudal vertebrae number and tail length. Functional analysis by luciferase reporter assays in UCH-1 cells revealed significant differences in activity among the haplotypes compared to the blank control. oTNE enhancer contains a T-box binding motif enabling <i>TBXT</i>-mediated self-regulation. Under the regulatory influence of <i>TBXT</i> on oTNE, we further found that H001 exhibited significantly higher enhancer activity than the other haplotypes. Thus, haplotypes within oTNE alter its transcriptional regulation of <i>TBXT</i>, providing a mechanistic explanation for tail morphology variation in sheep. This study not only provides evidence to further understand the cis-regulatory mechanisms underlying tail length in sheep but also lays a foundation for short-tail sheep breeding.</p>\u0000 </div>","PeriodicalId":7905,"journal":{"name":"Animal genetics","volume":"57 2","pages":""},"PeriodicalIF":2.1,"publicationDate":"2026-03-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147571338","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}

{"title":"Genome Assembly of the Threatened Fea's Muntjac (Muntiacus feae) Reveals Adaptive Evolution and Comparative Population Genomics of Fea's and Red Muntjacs","authors":"Pannawat Supapannachart,&nbsp;Piroon Jenjaroenpun,&nbsp;Thidathip Wongsurawat,&nbsp;Sithichoke Tangphatsornruang,&nbsp;Wirulda Pootakham,&nbsp;Chutima Sonthirod,&nbsp;Sissades Tongsima,&nbsp;Pongsakorn Wangkumhang,&nbsp;Alisa Wilantho,&nbsp;Ampika Thongphakdee,&nbsp;Saowaphang Sanannu,&nbsp;Thewarach Vechmanus,&nbsp;Supatsorn Panyalert,&nbsp;Apinya Wongsodchuen,&nbsp;Vichayanee Pumpitakkul,&nbsp;Wannapol Buthasane,&nbsp;Prapat Suriyaphol,&nbsp;Gunnaporn Suriyaphol","doi":"10.1002/age.70093","DOIUrl":"10.1002/age.70093","url":null,"abstract":"<div>\u0000 \u0000 <p>Fea's muntjac (<i>Muntiacus feae</i>) is a critically conserved species in Thailand, with fewer than 3 captive breeding pairs, while the closely related red muntjac remains widespread. Red muntjac was recently reclassified into northern (<i>M. vaginalis</i>) and southern (<i>M. muntjak</i>) lineages, though their genomic distinctions are unresolved. This study aimed to generate a high-quality Fea's muntjac reference genome using hybrid sequencing and examine its relationships with other mammals, as well as southern red muntjac and northern red muntjac genomes available in NCBI. Genome-wide single nucleotide polymorphism (SNP) analysis via RADseq was used to assess population structure, genetic purity, and inbreeding among Fea's muntjac and red muntjac in Thailand. The Fea's muntjac genome measured 2.47 Gb and contained 26 901 protein-coding genes. Phylogenetic analyses suggested Fea's muntjac diverged earlier than expected, coinciding with climatic and geological shifts. Comparative genomics revealed expansions in olfactory and spermatogenesis-related gene families, suggesting adaptive evolution. Admixture analysis identified 1 Fea's muntjac–red muntjac F1 hybrid. Captive Fea's muntjacs showed high inbreeding, reflecting their restricted founder base, whereas red muntjacs exhibited greater diversity. All Thai red muntjacs belonged to northern red muntjac, and all southern red muntjac reference genomes closely resembled northern red muntjac. These findings provide essential genomic insights into Fea's muntjac and red muntjac, supporting conservation strategies and the long-term genetic management of these species.</p>\u0000 </div>","PeriodicalId":7905,"journal":{"name":"Animal genetics","volume":"57 2","pages":""},"PeriodicalIF":2.1,"publicationDate":"2026-03-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147571288","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}

{"title":"Genetic Diversity in Dutch Sheep Breeds","authors":"J. Noëlle Hoorneman,&nbsp;Mira A. Schoon,&nbsp;Richard P. M. A. Crooijmans,&nbsp;Sipke Joost Hiemstra,&nbsp;Jack J. Windig","doi":"10.1002/age.70088","DOIUrl":"10.1002/age.70088","url":null,"abstract":"<p>The Netherlands has a rich variety of native sheep breeds, most of them at risk or endangered. We studied the distinctiveness of these breeds, their genetic diversity within and between breeds, and how this diversity is shaped by geography, purpose, history and genetic management practices. Semen samples of 171 rams of 11 native Dutch breeds were genotyped with the IMAGE001 multispecies SNP chip including 10 K sheep SNPs. Genetic characterisation showed a clear genetic differentiation, except for the Texel and two Texel-derived (sub)breeds. <i>F</i>_ST values were on average 0.124. The largest split was between breeds bred for milk or meat production on rich grasslands in the northwest of the Netherlands and breeds bred for grazing nature areas on poorer grounds in the east. The graphical distribution of the Principal Component Analysis mirrored the geographical distribution of the origin of the breeds. Within-breed diversity was largest for the two breeds with largest population sizes (Texel and Kempen heath sheep) plus the one breed, Veluwe heath sheep, that consistently has used a breeding circle to maintain genetic diversity. The Flevolander, a more recently developed breed based on two foreign breeds, had the highest unique diversity of all breeds. The Texel received the highest ranking after the Flevolander when optimising contributions for the gene bank. As sudden changes in genetic diversity can occur also in large commercial breeds, we recommend that besides safeguarding the endangered breeds, cross sections of the Texel are also stored in the Dutch gene bank.</p>","PeriodicalId":7905,"journal":{"name":"Animal genetics","volume":"57 2","pages":""},"PeriodicalIF":2.1,"publicationDate":"2026-03-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13025069/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147525433","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}

{"title":"Genome-Wide Association Studies for 24 Hematological Traits in Production Pigs Before and After Weaning","authors":"Jiahong Sun,&nbsp;Emil Ibragimov,&nbsp;Malene Kjelin Morsing,&nbsp;Martin Peter Rydal,&nbsp;Lise Nikolic Nielsen,&nbsp;Zexi Cai,&nbsp;Jens Peter Nielsen,&nbsp;Merete Fredholm,&nbsp;Peter Karlskov-Mortensen","doi":"10.1002/age.70091","DOIUrl":"10.1002/age.70091","url":null,"abstract":"<p>Hematological traits are essential indicators of an animal's immune status and overall health, reflecting both physiological and pathological conditions. The complete blood count (CBC), a commonly used clinical test, evaluates the concentrations, proportions, and characteristics of various blood cell parameters, providing insights into an animal's current health status. CBC phenotypes are dynamic, influenced not only by health status but also by factors such as physiology, nutrition, environmental conditions, age, and genetic makeup. Previous studies have estimated heritability for specific blood parameters and genome-wide association studies have identified loci associated with CBC phenotypes. While some loci seem to have similar effects across age and breeds and even across species, other loci seem to have a more breed and/or age-specific effect. This study extends previous research by conducting genome-wide association studies (GWAS) of 24 hematological traits measured in the same pig cohort at two ages (25 and 46 days). The GWAS included 1884 pigs at 25 days and 1615 pigs at 46 days, with 1499 pigs sampled at both time points. This analysis identified 57 QTLs for complete blood count (CBC) traits, including 11 lead SNPs associated with more than one trait. All animals were (Landrace × Yorkshire) × Duroc crossbred pigs. Thirty QTLs overlapped with previously reported CBC QTLs in different pig breeds, providing further evidence for shared regulatory regions for CBC traits across pig breeds. Genes in 29 QTLs were associated with comparable CBC phenotypes in humans.</p>","PeriodicalId":7905,"journal":{"name":"Animal genetics","volume":"57 2","pages":""},"PeriodicalIF":2.1,"publicationDate":"2026-03-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13021266/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147519536","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}

{"title":"Identification of Cryptic Evolutionary Rearrangements Between Cattle (Bovinae) and Goat (Caprinae) X Chromosomes","authors":"Wiktoria Kowal-Mierzwa,&nbsp;Ramona Pistuccci,&nbsp;Alessandra Iannuzzi,&nbsp;Michele Zannotti,&nbsp;Leopoldo Iannuzzi,&nbsp;Monika Bugno-Poniewierska,&nbsp;Pietro Parma","doi":"10.1002/age.70094","DOIUrl":"10.1002/age.70094","url":null,"abstract":"<div>\u0000 \u0000 <p>Cattle (<i>Bos taurus</i>, BTA) and goat (<i>Capra hircus</i>, CHI) are members of the <i>Bovidae</i> family, whose divergence into the <i>Bovinae</i> and <i>Caprinae</i> subfamilies occurred approximately 20 million years ago. These two species sharing the same diploid number (2<i>n</i> = 60) and having entirely acrocentric autosomes; moreover, they display remarkable chromosomal conservation, with only two known autosomal differences: a small translocation between BTA9 and CHI14, and an inversion on chromosome 13. Conversely, sex chromosome evolution in <i>Bovidae</i> is considerably faster, as reflected in the morphological and structural differences between the X chromosomes of cattle (submetacentric) and goat (acrocentric). Previous studies identified three large conserved regions between BTAX and CHIX, showing near-perfect conservation between the distal region of BTAXq and the proximal region of CHIX. In the present study, we aimed to detect potential small-scale evolutionary rearrangements that may have been overlooked by standard cytogenetic methods. Using fluorescence in situ hybridization (FISH), we identified an inversion of approximately 3 Mb between the cattle and goat X chromosomes. Additionally, our analysis revealed two assembly errors within the goat genome. These findings refine the current understanding of <i>Bovidae</i> sex chromosome evolution and emphasize the importance of high-resolution cytogenetic approaches.</p>\u0000 </div>","PeriodicalId":7905,"journal":{"name":"Animal genetics","volume":"57 2","pages":""},"PeriodicalIF":2.1,"publicationDate":"2026-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147508809","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}

{"title":"A CACNA2D2-Related Recessive Form of Cerebellar Abiotrophy in Angus Cattle","authors":"Joana Jacinto,&nbsp;Francesca Chianini,&nbsp;Jo Moore,&nbsp;Timothy Geraghty,&nbsp;Irene M. Häfliger,&nbsp;Franz R. Seefried,&nbsp;Alwyn Jones,&nbsp;Helen Carty,&nbsp;Anna Letko,&nbsp;Cord Drögemüller","doi":"10.1002/age.70086","DOIUrl":"10.1002/age.70086","url":null,"abstract":"<p>Cerebellar disease in ruminants is often virus-induced and non-genetic, but there are also rare inherited forms of cerebellar hypoplasia and cerebellar abiotrophy (CA). So far, no causal variant has been reported for these conditions in cattle. Two inbred Angus calves suspected of having cerebellar disease were reported in Scotland. The aims of this study were to characterize the clinicopathological phenotype of Angus calves affected by a cerebellar disease, to identify a causal variant assuming autosomal monogenic recessive inheritance and to evaluate its prevalence in Angus populations. Clinicopathological investigations were performed, including the exclusion of prevalent teratogenic viruses as well as a multiple-case whole-genome sequencing (WGS) approach. The two affected Angus calves showed congenital intention tremor and brain examination detected cerebellar abiotrophy. Genetic analysis identified a private homozygous missense variant in the bovine <i>CACNA2D2</i> gene (XP_024839037.1:p.(Cys395Arg)), which is linked to neurological disorders in other species, including a form of cerebellar atrophy in humans. This variant was classified as pathogenic and shown to be absent in sequence data from over 5000 other cattle with available WGS data as well as in a cohort of 16 purebred Angus cattle from Switzerland. The variant is proposed to cause a rare form of CA in Angus and therefore should be monitored in the Angus global population, as previous similar cases were reported elsewhere. For the first time, we characterized a genetic form of cerebellar disease in cattle, providing the first large animal model for a condition related to the <i>CACNA2D2</i> gene.</p>","PeriodicalId":7905,"journal":{"name":"Animal genetics","volume":"57 2","pages":""},"PeriodicalIF":2.1,"publicationDate":"2026-03-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13011162/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147502854","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}

{"title":"Tissue-Specific IAG Interactome in Cherax quadricarinatus Gonads","authors":"Honglin Chen,&nbsp;Shuzhi Li,&nbsp;Huiyi Cai,&nbsp;Huan Zhou,&nbsp;Lun Qian,&nbsp;Wenting Wang,&nbsp;Bao Lou","doi":"10.1002/age.70095","DOIUrl":"10.1002/age.70095","url":null,"abstract":"<div>\u0000 \u0000 <p>Insulin-like androgenic gland (IAG) hormone is a central regulator of sex differentiation in decapod crustaceans. However, the tissue-specific molecular interaction networks governing its gonadal functions remain poorly characterized. Through protein pull-down assays, 279 candidate IAG-interacting proteins were captured from gonadal tissues (androgenic gland [AG], testis and ovary) of <i>Cherax quadricarinatus</i> followed by GO and KEGG enrichment analyses. Subsequently, 32 high-confidence interactors were identified via dimeric complex structures prediction using a composite reliability threshold (ipTM + pTM &gt; 0.75). For eight key candidates, interacting amino acid residues and binding energies were further predicted with AlphaFold3. The AG harbored the largest number of interactors, showing significant enrichment in metabolic pathways. Notably, interactions with ubiquitin-like modifier-activating enzyme 1 (UBA1), heat shock protein (HSP) and histone-lysine N-methyltransferase (HKMT) in male gonadal tissues (AG and testis) suggest potential epigenetic regulatory roles for IAG. Conversely, in the ovary, IAG interacted with endoribonuclease Dicer (DICER1) and casein kinase II (CK2), implying putative post-transcriptional and post-translational mechanisms for inhibiting female maturation. This study reveals the tissue-specific complexity of the IAG interactome in <i>Cherax quadricarinatus</i> gonads, elucidating its potential dual roles in regulating metabolic processes in the AG and modulating post-transcriptional/post-translational events in the ovary. These findings provide novel insights into the molecular mechanisms of crustacean sex development and identify new targets for sex-control strategies in <i>Cherax quadricarinatus</i>.</p>\u0000 </div>","PeriodicalId":7905,"journal":{"name":"Animal genetics","volume":"57 2","pages":""},"PeriodicalIF":2.1,"publicationDate":"2026-03-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147503005","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}

{"title":"LRP4-Related Lethal Syndromic Form of Syndactyly in Limousin Cattle","authors":"Joana Jacinto,&nbsp;Jessica Gearing,&nbsp;Aurélien Capitan,&nbsp;Ana-Maria Zorlescu,&nbsp;Arthur Otter,&nbsp;Cord Drögemüller","doi":"10.1002/age.70090","DOIUrl":"10.1002/age.70090","url":null,"abstract":"&lt;p&gt;Syndactyly in cattle (OMIA:000963-9913), also known as mulefoot, is a congenital malformation within the polydactyly–syndactyly–triphalangism category, characterized by the fusion or incomplete separation of the two fully developed digits of the bovine foot (Leipold et al. &lt;span&gt;1969&lt;/span&gt;; Jacinto et al. &lt;span&gt;2025&lt;/span&gt;). This bovine single-gene disorder exhibits variable expression and is most commonly observed in the forelimbs. However, all four limbs can be affected following a front-to-rear and left-to-right gradient (Leipold et al. &lt;span&gt;1969&lt;/span&gt;; Drögemüller and Distl &lt;span&gt;2006&lt;/span&gt;). To date, five recessively inherited causal protein-changing variants in the bovine &lt;i&gt;LRP4&lt;/i&gt; gene have been identified in Holstein, Angus, and Simmental × Charolais crosses showing non-syndromic forms of syndactyly (Jacinto et al. &lt;span&gt;2025&lt;/span&gt;; Drögemüller et al. &lt;span&gt;2007a&lt;/span&gt;; Johnson et al. &lt;span&gt;2006a&lt;/span&gt;; Duchesne et al. &lt;span&gt;2006a&lt;/span&gt;). This gene encodes a receptor for agrin, a large proteoglycan widely expressed at neuromuscular junctions. It is associated with human congenital myasthenic syndromes, which are characterized by impaired neuromuscular signaling (Ohno et al. &lt;span&gt;2025&lt;/span&gt;), as well as with rare forms of skeletal disorders affecting distal limb development, including syndactyly (Li et al. &lt;span&gt;2010&lt;/span&gt;; Leupin et al. &lt;span&gt;2011&lt;/span&gt;).&lt;/p&gt;&lt;p&gt;Two purebred stillborn female Limousin calves, who were paternal half-siblings, were born in a herd of 60 cows in England, with suspected syndactyly. To investigate potential infectious aetiologies, brain samples from the second calf were tested for the presence of bovine viral diarrhea virus, &lt;i&gt;Neospora&lt;/i&gt; spp., and Schmallenberg virus using PCR with negative results. Gross pathology findings revealed a phenotype resembling the bovine syndactyly in all limbs of both calves with the additional presence of brachygnathia and arthrogryposis in both (Figure S1). The pathological findings were compatible with a syndromic form of syndactyly.&lt;/p&gt;&lt;p&gt;Pedigree analysis revealed multiple inbreeding loops and showed that the dams of the two cases were related in the second generation. Based on the observed congenital abnormalities and the pedigree analysis, a monogenic recessively inherited form of syndromic syndactyly was suspected.&lt;/p&gt;&lt;p&gt;Biological material for genetic investigation was available for one trio. Therefore, short-read whole-genome sequencing (WGS) using genomic DNA obtained from tissue of case 1, EDTA-blood from its dam and semen from its sire was performed as described before (Jacinto et al. &lt;span&gt;2025&lt;/span&gt;). The sequenced reads were mapped to the ARS-UCD1.2 cattle reference genome (National Center for Biotechnology Information &lt;span&gt;2018&lt;/span&gt;), resulting in an average read depth of approximately 14.8× and single-nucleotide variants and small indel variants were called as previously described (Jacinto et al. &lt;span&gt;2025&lt;/span&gt;). The genome of the trio was","PeriodicalId":7905,"journal":{"name":"Animal genetics","volume":"57 2","pages":""},"PeriodicalIF":2.1,"publicationDate":"2026-03-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13001133/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147484442","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}