A complex structural variant at the KIT locus in cattle with the Pinzgauer spotting pattern.

Abstract:

:A specific white spotting phenotype, termed finching or line-backed spotting, is known for all Pinzgauer cattle and occurs occasionally in Tux-Zillertaler cattle, two Austrian breeds. The so-called Pinzgauer spotting is inherited as an autosomal incompletely dominant trait. A genome-wide association study using 27 white spotted and 16 solid-coloured Tux-Zillertaler cattle, based on 777k SNP data, revealed a strong signal on chromosome 6 at the KIT locus. Haplotype analyses defined a critical interval of 122 kb downstream of the KIT coding region. Whole-genome sequencing of a Pinzgauer cattle and comparison to 338 control genomes revealed a complex structural variant consisting of a 9.4-kb deletion and an inversely inserted duplication of 1.5 kb fused to a 310-kb duplicated segment from chromosome 4. A diagnostic PCR was developed for straightforward genotyping of carriers for this structural variant (KITPINZ ) and confirmed that the variant allele was present in all Pinzgauer and most of the white spotted Tux-Zillertaler cattle. In addition, we detected the variant in all Slovenian Cika, British Gloucester and Spanish Berrenda en negro cattle with similar spotting patterns. Interestingly, the KITPINZ variant occurs in some white spotted animals of the Swiss breeds Evolèner and Eringer. The introgression of the KITPINZ variant confirms admixture and the reported historical relationship of these short-headed breeds with Austrian Tux-Zillertaler and suggests a mutation event, occurring before breed formation.

journal_name

Anim Genet

journal_title

Animal genetics

authors

Küttel L,Letko A,Häfliger IM,Signer-Hasler H,Joller S,Hirsbrunner G,Mészáros G,Sölkner J,Flury C,Leeb T,Drögemüller C

doi

10.1111/age.12821

subject

Has Abstract

pub_date

2019-10-01 00:00:00

pages

423-429

issue

5

eissn

0268-9146

issn

1365-2052

journal_volume

50

pub_type

杂志文章
  • Current knowledge of microRNA characterization in agricultural animals.

    abstract::MicroRNA (miRNA) is a class of single-stranded small (19-24nt) regulatory RNA that silences gene expression post-transcriptionally. miRNAs regulate a wide range of biological processes through the recognition of complementary sequences between miRNAs and their target genes. Profiling studies in livestock have revealed...

    journal_title:Animal genetics

    pub_type: 杂志文章,评审

    doi:10.1111/j.1365-2052.2009.01995.x

    authors: Liu HC,Hicks JA,Trakooljul N,Zhao SH

    更新日期:2010-06-01 00:00:00

  • T lymphocyte development and maturation in horses.

    abstract::Monoclonal antibodies specific for equine T lymphocyte subpopulations were produced and procedures for the continuous culture of equine lymphocytes were developed. These reagents and procedures were used to analyse the appearance, maturation and functions of T lymphocytes in normal horses and in T lymphocyte deficient...

    journal_title:Animal genetics

    pub_type: 杂志文章,评审

    doi:10.1111/j.1365-2052.1988.tb00825.x

    authors: Perryman LE,Wyatt CR,Magnuson NS,Mason PH

    更新日期:1988-01-01 00:00:00

  • Restriction fragment length polymorphisms for growth hormone, prolactin, osteonectin, alpha crystallin, gamma crystallin, fibronectin and 21-steroid hydroxylase in cattle.

    abstract::Genomic DNAs from animals representing six breeds of cattle (Angus, Brahman, Hereford, Holstein, Jersey and Texas Longhorn) were screened with cloned gene probes in a search for restriction fragment length polymorphisms (RFLPs). Eleven RFLPs were identified using seven different probes: growth hormone, prolactin, oste...

    journal_title:Animal genetics

    pub_type: 杂志文章

    doi:10.1111/j.1365-2052.1989.tb00866.x

    authors: Theilmann JL,Skow LC,Baker JF,Womack JE

    更新日期:1989-01-01 00:00:00

  • Extending the chicken-human comparative map by placing 15 genes on the chicken linkage map.

    abstract::To increase the number of type I loci on the chicken linkage map, chicken genes containing microsatellite sequences (TAn, CAn, GAn, An) were selected from the nucleotide sequence database and primers were developed to amplify the repeats. Initially, 40 different microsatellites located within genes were tested on a pa...

    journal_title:Animal genetics

    pub_type: 杂志文章

    doi:10.1046/j.1365-2052.1999.00527.x

    authors: Groenen MA,Crooijmans RP,Dijkhof RJ,Acar R,van der Poel JJ

    更新日期:1999-12-01 00:00:00

  • Additional studies of sheep haemopexin: genetic control, frequencies and postnatal development.

    abstract::This study presents evidence that sheep haemopexin phenotypes are genetically controlled by three alleles, HpxA, HpxB1 and HpxB2, of a single autosomal locus. Frequencies of two alleles, HpxA and HpxB (HpxB encompasses two isoalleles, HpxB1 and HpxB2), were studied in eight sheep breeds in Czechoslovakia. The frequenc...

    journal_title:Animal genetics

    pub_type: 杂志文章

    doi:10.1111/j.1365-2052.1989.tb00856.x

    authors: Stratil A,Bobák P,Margetín M,Glasnák V

    更新日期:1989-01-01 00:00:00

  • Polymorphic CAC/T repetitive sequences in the pig genome 1.

    abstract::Three genomic clones were isolated from a size-selected pig DNA library by hybridization with a DNA-fingerprint probe. Analysis at the sequence level revealed that all three clones contain interrupted stretches of triplet repeats mainly composed of CAC and CAT triplets. Evaluation of the corresponding loci for polymor...

    journal_title:Animal genetics

    pub_type: 杂志文章

    doi:10.1111/j.1365-2052.1995.tb02667.x

    authors: Coppieters W,Van de Weghe A,Depicker A,Coppieters J,Peelman L,Van Zeveren A,Bouquet Y

    更新日期:1995-10-01 00:00:00

  • Novel alternative splicing by exon skipping in KIT associated with whole-body roan in an intercrossed population of Landrace and Korean Native pigs.

    abstract::The KIT locus has been suggested to be a strong candidate region linked with whole-body roan in the F(2) population produced by intercrosses between Landrace and Korean Native pigs. In this manuscript, we report the finding of a novel alternative splicing event in the porcine KIT gene that results in the skipping of e...

    journal_title:Animal genetics

    pub_type: 杂志文章

    doi:10.1111/j.1365-2052.2011.02225.x

    authors: Lim HT,Zhong T,Cho IC,Seo BY,Kim JH,Lee SS,Ko MS,Park HB,Kim BW,Lee JH,Jeon JT

    更新日期:2011-08-01 00:00:00

  • Association between population structure and allele frequencies of the glycogen synthase 1 mutation in the Austrian Noriker draft horse.

    abstract::The aim of this study was to determine the allele frequency of the glycogen synthase 1 (GYS1) mutation associated with polysaccharide storage myopathy type 1 in the Austrian Noriker horse. Furthermore, we examined the influence of population substructures on the allele distribution. The study was based upon a comprehe...

    journal_title:Animal genetics

    pub_type: 杂志文章

    doi:10.1111/age.12481

    authors: Druml T,Grilz-Seger G,Neuditschko M,Brem G

    更新日期:2017-02-01 00:00:00

  • Toward the most ideal case-control design with related and unrelated dogs in whole-exome sequencing studies.

    abstract::With the recent development of whole-exome sequencing enrichment designs for the dog, a novel tool for disease-association studies became available. The aim of disease-association studies is to identify one or a very limited number of putative causal variants or genes from the large pool of genetic variation. To maxim...

    journal_title:Animal genetics

    pub_type: 杂志文章

    doi:10.1111/age.12400

    authors: Broeckx BJ,Coopman F,Verhoeven GE,De Keulenaer S,De Meester E,Bavegems V,Smets P,Van Ryssen B,Van Nieuwerburgh F,Deforce D

    更新日期:2016-04-01 00:00:00

  • New genomic features of the polled intersex syndrome variant in goats unraveled by long-read whole-genome sequencing.

    abstract::In domestic goats, the polled intersex syndrome (PIS) refers to XX female-to-male sex reversal associated with the absence of horn growth (polled). The causal variant was previously reported as a 11.7 kb deletion at approximately 129 Mb on chromosome 1 that affects the transcription of both FOXL2 and several long non-...

    journal_title:Animal genetics

    pub_type: 杂志文章

    doi:10.1111/age.12918

    authors: Simon R,Lischer HEL,Pieńkowska-Schelling A,Keller I,Häfliger IM,Letko A,Schelling C,Lühken G,Drögemüller C

    更新日期:2020-06-01 00:00:00

  • Genome-wide association studies pathway-based meta-analysis for residual feed intake in beef cattle.

    abstract::Genome-wide association studies (GWASes) have been performed to search for genomic regions associated with residual feed intake (RFI); however inconsistent results have been obtained. A meta-analysis may improve these results by decreasing the false-positive rate. Additionally, pathway analysis is a powerful tool that...

    journal_title:Animal genetics

    pub_type: 杂志文章,meta分析

    doi:10.1111/age.12761

    authors: Duarte DAS,Newbold CJ,Detmann E,Silva FF,Freitas PHF,Veroneze R,Duarte MS

    更新日期:2019-04-01 00:00:00

  • Identification of copy number variations in three Chinese horse breeds using 70K single nucleotide polymorphism BeadChip array.

    abstract::Copy number variation (CNV), an essential form of genetic variation, has been increasingly recognized as one promising genetic marker in the analysis of animal genomes. Here, we used the Equine 70K single nucleotide polymorphism genotyping array for the genome-wide detection of CNVs in 96 horses from three diverse Chi...

    journal_title:Animal genetics

    pub_type: 杂志文章

    doi:10.1111/age.12451

    authors: Kader A,Liu X,Dong K,Song S,Pan J,Yang M,Chen X,He X,Jiang L,Ma Y

    更新日期:2016-10-01 00:00:00

  • Parentage testing of dogs using variants of blood proteins: description of five new plasma protein polymorphisms.

    abstract::Plasma samples of 1126 dogs belonging to 21 different European breeds were analysed by two-dimensional agarose gel (pH 5.4 or pH 8.6)--horizontal polyacrylamide gel (pH 9.0) electrophoresis, followed by general-protein staining of gels. Genetic polymorphism was detected for five as yet unidentified proteins designated...

    journal_title:Animal genetics

    pub_type: 杂志文章

    doi:10.1111/j.1365-2052.1987.tb00773.x

    authors: Juneja RK,Arnold IC,Gahne B,Bouw J

    更新日期:1987-01-01 00:00:00

  • Expression levels of 25 genes in liver and testis located in a QTL region for androstenone on SSC7q1.2.

    abstract::A quantitative trait locus (QTL) for boar fat androstenone levels has been identified near the SSC7 centromere in a Large White × Meishan cross. Backcrosses were produced to isolate the Chinese haplotype in a European genetic background. The expression of 25 genes from the QTL region was studied in the testes and live...

    journal_title:Animal genetics

    pub_type: 杂志文章

    doi:10.1111/j.1365-2052.2011.02195.x

    authors: Robic A,Fève K,Larzul C,Billon Y,van Son M,Liaubet L,Sarry J,Milan D,Grindflek E,Bidanel JP,Riquet J

    更新日期:2011-12-01 00:00:00

  • A search for associations between major histocompatibility complex restriction fragment length polymorphism bands and resistance to Haemonchus contortus infection in sheep.

    abstract::Polymorphic bands were detected within the DQB and DRB regions of the ovine major histocompatibility complex by probing TaqI digested DNA from three large sheep half-sib families derived from a highly resistant ram. All animals were phenotypically assessed for Haemonchus contortus resistance by faecal egg counts and a...

    journal_title:Animal genetics

    pub_type: 杂志文章

    doi:10.1111/j.1365-2052.1993.tb00311.x

    authors: Blattman AN,Hulme DJ,Kinghorn BP,Woolaston RR,Gray GD,Beh KJ

    更新日期:1993-08-01 00:00:00

  • Genome screen for twinning rate QTL in four North American Holstein families.

    abstract::The objective of this study was to identify twinning rate quantitative trait loci (QTL) by typing pooled samples in a preliminary screening followed by interval mapping to test QTL effects. Four elite North American Holstein half-sib sire families with high twinning rate predicted transmitting abilities (PTA) were use...

    journal_title:Animal genetics

    pub_type: 杂志文章

    doi:10.1111/j.1365-2052.2005.01299.x

    authors: Cobanoglu O,Berger PJ,Kirkpatrick BW

    更新日期:2005-08-01 00:00:00

  • Quantitative trait loci affecting eggshell traits in an F(2) population.

    abstract::Good eggshell quality is important for both table egg quality and chicken reproductive performance. Weak eggshells cause economic losses in all production steps. Poor eggshell quality also poses increased risk for Salmonella infections. Eggshell quality has been a difficult trait to improve by traditional breeding, as...

    journal_title:Animal genetics

    pub_type: 杂志文章

    doi:10.1111/j.1365-2052.2010.02131.x

    authors: Tuiskula-Haavisto M,Honkatukia M,Preisinger R,Schmutz M,de Koning DJ,Wei WH,Vilkki J

    更新日期:2011-06-01 00:00:00

  • Restriction fragment length polymorphism (RFLP) of exon 2 of the MhcBibi-DRB3 gene in American bison (Bison bison).

    abstract::Polymerase chain reaction (PCR) primers specific to exon 2 of the bovine lymphocyte antigen (BoLA)-DRB3 gene were successfully used to amplify the equivalent region in 469 American bison (Bison bison). In domestic cattle, alleles of DRB3 are assigned through a restriction fragment length polymorphism (RFLP) analysis o...

    journal_title:Animal genetics

    pub_type: 杂志文章

    doi:10.1111/j.1365-2052.1994.tb00409.x

    authors: Morris BG,Spencer MC,Stabile S,Dodd JN

    更新日期:1994-06-01 00:00:00

  • Organization of the sex-linked late-feathering haplotype in chickens.

    abstract::Nucleotide sequence analysis of polymerase chain reaction products confirmed that ev21 integrated into one of two large homologous elements on the Z chromosome of late-feathering (LF) White Leghorn chickens. Southern blots of NotI-, NaeI-, KspI- and BamHI-digested DNA from early-feathering (EF) and LF White Leghorns, ...

    journal_title:Animal genetics

    pub_type: 杂志文章

    doi:10.1111/j.1365-2052.1995.tb03153.x

    authors: Iraqi F,Smith EJ

    更新日期:1995-06-01 00:00:00

  • Evidence for biogeographic patterning of mitochondrial DNA sequences in Eastern horse populations.

    abstract::Equine mitochondrial DNA (mtDNA) phylogeny reconstruction reveals a complex pattern of variation unlike that seen in other large domesticates. It is likely that this pattern reflects a process of multiple and repeated, although not necessarily independent, domestication events. Until now, no clear geographic affiliati...

    journal_title:Animal genetics

    pub_type: 杂志文章

    doi:10.1111/j.1365-2052.2006.01495.x

    authors: McGahern A,Bower MA,Edwards CJ,Brophy PO,Sulimova G,Zakharov I,Vizuete-Forster M,Levine M,Li S,MacHugh DE,Hill EW

    更新日期:2006-10-01 00:00:00

  • Identification of a short interspersed repetitive element insertion polymorphism in the porcine MX1 promoter associated with resistance to porcine reproductive and respiratory syndrome virus infection.

    abstract::The myxovirus resistance (Mx) proteins belong to the dynamin superfamily and are important for innate host defence against RNA viruses. In this study, we demonstrate that positive elements are present in the two promoter regions of -2713 to -2565 and -688 to -431 in the porcine MX1 gene. Sequencing and alignment of th...

    journal_title:Animal genetics

    pub_type: 杂志文章

    doi:10.1111/age.12316

    authors: Li Y,Liang S,Liu H,Sun Y,Kang L,Jiang Y

    更新日期:2015-08-01 00:00:00

  • Comparing two commercial domestic dog (Canis familiaris) STR genotyping kits for forensic identity calculations in a mixed-breed dog population sample.

    abstract::Almost half of all US households own a dog (Canis familiaris). Though these household pets can attack humans and other animals, they are also frequently victims of cruelty, neglect and theft. In human-oriented investigations, the tendency of domestic dogs to leave behind physical traces (such as hair) can serve as val...

    journal_title:Animal genetics

    pub_type: 杂志文章

    doi:10.1111/age.12758

    authors: Kanthaswamy S,Oldt RF,Montes M,Falak A

    更新日期:2019-02-01 00:00:00

  • Female segregation patterns of the putative Y-chromosome-specific microsatellite markers INRA124 and INRA126 do not support their use for cattle population studies.

    abstract::Here we tested the segregation and paternal compatibility of markers INRA124 and INRA126 on female DNA in 10 different cattle families, in order to clarify the usefulness of these microsatellites for the study of male-mediated population processes in cattle. Their performance was compared with that of four microsatell...

    journal_title:Animal genetics

    pub_type: 杂志文章

    doi:10.1111/j.1365-2052.2009.01870.x

    authors: Pérez-Pardal L,Royo LJ,Alvarez I,de León FA,Fernández I,Casais R,Goyache F

    更新日期:2009-08-01 00:00:00

  • The Burmese cat as a genetic model of type 2 diabetes in humans.

    abstract::The recent extension of genetic tools to the domestic cat, together with the serendipitous consequences of selective breeding, have been essential to the study of the genetic diseases that affect them. Cats are increasingly presented for veterinary surveillance and share many of human's heritable diseases, allowing th...

    journal_title:Animal genetics

    pub_type: 杂志文章,评审

    doi:10.1111/age.12799

    authors: Samaha G,Beatty J,Wade CM,Haase B

    更新日期:2019-08-01 00:00:00

  • Physical mapping of the brain and ovarian aromatase genes in the Nile Tilapia, Oreochromis niloticus, by fluorescence in situ hybridization.

    abstract::Cytochrome P450-aromatase enzyme (CYP19), which catalyses the conversion of androgens to oestrogens, is critical in ovarian differentiation and hence in the sex differentiation pathways of non-mammalian vertebrates. As in other fish species, distinct ovarian and brain aromatase genes have been identified in the Nile T...

    journal_title:Animal genetics

    pub_type: 杂志文章

    doi:10.1046/j.1365-2052.2003.00941.x

    authors: Harvey SC,Kwon JY,Penman DJ

    更新日期:2003-02-01 00:00:00

  • Comparative transcriptome analysis reveals genes related to the yolk ratio of duck eggs.

    abstract::Yolk ratio is an important production index in the salted duck egg industry. Yolk constituents are deposited during development of follicles. However, the molecular mechanism responsible for different yolk ratios in laying ducks remains elusive. In this study, Shaoxing ducks laying eggs with different yolk ratios were...

    journal_title:Animal genetics

    pub_type: 杂志文章

    doi:10.1111/age.12820

    authors: Du X,Ren JD,Xu XQ,Chen GH,Huang Y,Du JP,Tao ZR,Cai ZX,Lu LZ,Yang H

    更新日期:2019-10-01 00:00:00

  • Complete sequence of the Japanese quail (Coturnix japonica) mitochondrial genome and its genetic relationship with related species.

    abstract::The Japanese quail (Coturnix japonica; JQ) is one of the domesticated fowl species of Japan. To provide DNA sequence information for examination of its phylogenetic position in the order Galliformes, the complete sequence of the JQ mitochondria was determined. Sequence analysis revealed that the JQ mitochondrial genom...

    journal_title:Animal genetics

    pub_type: 杂志文章

    doi:10.1046/j.1365-2052.2001.00795.x

    authors: Nishibori M,Hayashi T,Tsudzuki M,Yamamoto Y,Yasue H

    更新日期:2001-12-01 00:00:00

  • APOB-associated cholesterol deficiency in Holstein cattle is not a simple recessive disease.

    abstract::In 2015, cholesterol deficiency (CD) was reported for the first time as a new recessive defect in Holstein cattle. After GWAS mapping and identification of a disease-associated haplotype, a causative loss-of-function variant in APOB was identified. CD-clinically affected APOB homozygotes showed poor development, inter...

    journal_title:Animal genetics

    pub_type: 杂志文章

    doi:10.1111/age.12801

    authors: Häfliger IM,Hofstetter S,Mock T,Stettler MH,Meylan M,Mehinagic K,Stokar-Regenscheit N,Drögemüller C

    更新日期:2019-08-01 00:00:00

  • Three new MHC haplotypes in broiler breeder chickens.

    abstract::Six distinct serotypes of the chicken B blood group system (which encodes the major histocompatibility complex) were identified in a commercial broiler breeder line (Line C). The B serotypes were compared by B-G restriction fragment length polymorphism (RFLP) analysis, allele-specific PCR typing test for B-LBII family...

    journal_title:Animal genetics

    pub_type: 杂志文章

    doi:10.1046/j.1365-2052.2001.00741.x

    authors: Livant EJ,Zheng D,Johnson LW,Shi W,Ewald SJ

    更新日期:2001-06-01 00:00:00

  • Two MC1R loss-of-function alleles in cream-coloured Australian Cattle Dogs and white Huskies.

    abstract::Loss-of-function variants in the MC1R gene cause recessive red or yellow coat-colour phenotypes in many species. The canine MC1R:c.916C>T (p.Arg306Ter) variant is widespread and found in a homozygous state in many uniformly yellow- or red-coloured dogs. We investigated cream-coloured Australian Cattle Dogs whose coat ...

    journal_title:Animal genetics

    pub_type: 杂志文章

    doi:10.1111/age.12660

    authors: Dürig N,Letko A,Lepori V,Hadji Rasouliha S,Loechel R,Kehl A,Hytönen MK,Lohi H,Mauri N,Dietrich J,Wiedmer M,Drögemüller M,Jagannathan V,Schmutz SM,Leeb T

    更新日期:2018-08-01 00:00:00