Skip to main content
SpringerLink
Log in

Genomic analysis of cattle rob(1;29)

  • Published:
Chromosome Research Aims and scope Submit manuscript

Abstract

Robertsonian translocation (rob) involving chromosomes 1 and 29 represents the most frequent chromosome abnormality observed in cattle breeds intended for meat production. The negative effects of this anomaly on fertility are widely demonstrated, and in many countries, screening programs are being carried out to eliminate carriers from reproduction. Although rob(1;29) was first observed in 1964, the genomic structure of this anomaly is partially unclear. In this work, we demonstrate that, during the fusion process, around 5.4 Mb of the pericentromeric region of BTA29 moves to the q arm, close to the centromere, of rob(1;29). We also clearly show that this fragment is inverted. We find that no deletion/duplication involving sequences reported in the BosTau6 genome assembly occurred during the fusion process which originates this translocation.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1
Fig. 2
Fig. 3
Fig. 4
Fig. 5

Similar content being viewed by others

Abbreviations

BAC:

Bacterial Artificial Chromosome

BLAST:

Basic Local Alignment Search Tool

BTA:

Bos Taurus

C11orf:

Chromosome 11 Open Reading Frame

ESM:

Electronic supplementary material

FISH:

Fluorescence In situ Hybridization

FOLH:

folate hydrolase

HC:

heterochromatin

IDGVA:

Istituto Di Genetica e Valorizzazione Animale

INRA:

Institut National Recheche Agronomique

MIR:

microRNA

QTL:

Quantitative trait loci

RefSeq:

Reference sequence

SCARNA:

small Cajal body-specific RNA

SLC:

solute carrier

SMORD:

small nuclear RNA C/D box non-coding RNA

SNORA:

small nucleolar RNA, H/ACA box

TRIM:

tripartite motif-containing

TYR:

Tyrosine

UBTFL:

upstream binding transcription factor

UMD:

University of Maryland

References

  • Bickhart DM, Hou Y, Schroeder SG et al. (2012) Copy number variation of individual cattle genomes using next-generation sequencing. Genome Res 22:778–790

    Google Scholar 

  • Bonnet-Garnier A, Pinton A, Berland HM et al (2006) Sperm nuclei analysis of 1/29 Robertsonian translocation carrier bulls using fluorescence in situ hybridization. Cytogenet Genome Res 112:241–247

    Article  PubMed  CAS  Google Scholar 

  • Bonnet-Garnier A, Lacaze S, Beckers JF et al (2008) Meiotic segregation analysis in cows carrying the t(1;29) Robertsonian translocation. Cytogenet Genome Res 120:91–96

    Article  PubMed  CAS  Google Scholar 

  • Chaves R, Adega F, Heslop-Harrison JS et al (2003) Complex satellite DNA reshuffling in the polymorphic t(1;29) Robertsonian translocation and evolutionarily derived chromosomes in cattle. Chromosome Res 11:641–648

    Article  PubMed  CAS  Google Scholar 

  • De Grouchy J, Roubin M, Passage E (1964) Microtechnique pour l’étude des chromosomes humains a partir d’une culture de leucocytes sanguins. Ann Genet 7:45–46

    Google Scholar 

  • De Lorenzi L, De Giovanni A, Molteni L et al (2007) Characterization of a balanced reciprocal translocation, rcp(9;11)(q27;q11) in cattle. Cytogenet Genome Res 119:231–234

    Article  PubMed  Google Scholar 

  • De Lorenzi L, Kopecna O, Gimelli S et al (2010) Reciprocal translocation t(4;7)(q14;q28) in cattle: molecular characterization. Cytogenet Genome Res 129:298–304

    Article  PubMed  Google Scholar 

  • Di Meo GP, Perucatti A, Chaves R et al (2006) Cattle rob(1;29) originating from complex chromosome rearrangements as revealed by both banding and FISH-mapping techniques. Chromosome Res 14:649–655

    Article  PubMed  CAS  Google Scholar 

  • Douet-Guilbert N, Bris MJ, Amice V et al (2005) Interchromosomal effect in sperm of males with translocations: report of 6 cases and review of the literature. Int J Androl 28:372–379

    Article  PubMed  CAS  Google Scholar 

  • Ducos A, Revay T, Kovacs A et al (2008) Cytogenetic screening of livestock populations in Europe: an overview. Cytogenet Genome Res 120:26–41

    Article  PubMed  CAS  Google Scholar 

  • Dyrendahl I, Gustavsson I (1979) Sexual functions, semen characteristics and fertility of bulls carrying the 1/29 chromosome translocation. Hereditas 90:281–289

    Article  PubMed  CAS  Google Scholar 

  • Eggen A, Oustry A, Vaiman D et al (1994) Bovine synteny group U7, previously assigned to G-banded chromosome 25 in the ISCNDA nomenclature, assigns to R-banded chromosome 29. Hereditas 121:295–300

    Article  PubMed  CAS  Google Scholar 

  • Guichaoua MR, Quack B, Speed RM et al (1990) Infertility in human males with autosomal translocations: meiotic study of a 14;22 Robertsonian translocation. Hum Genet 86:162–166

    Article  PubMed  CAS  Google Scholar 

  • Gustavsson I, Rockborn G (1964) Chromosome abnormality in three cases of lymphatic leukemia in cattle. Nature 203:990

    Article  PubMed  CAS  Google Scholar 

  • Hayes BJ, Chamberlain AJ, Maceachern S et al (2009) A genome map of divergent artificial selection between Bos taurus dairy cattle and Bos taurus beef cattle. Anim Genet 40:176–184

    Article  PubMed  CAS  Google Scholar 

  • Holmberg M, Andersson-Eklund L (2006) Quantitative trait loci affecting fertility and calving traits in Swedish dairy cattle. J Dairy Sci 89:3664–3671

    Article  PubMed  CAS  Google Scholar 

  • Hou Y, Liu GE, Bickhart DM, Cardone MF et al (2011) Genomic characteristics of cattle copy number variations. BMC Genomics 12:127

    Article  PubMed  Google Scholar 

  • Iannuzzi A, Di Meo GP, Caputi-Jambrenghi A et al (2008) Frequency and distribution of rob(1;29) in eight Portuguese cattle breeds. Cytogenet Genome Res 120:147–149

    Article  PubMed  CAS  Google Scholar 

  • Iannuzzi L, King WA, Di Berardino D (2009) Chromosome evolution in domestic bovids as revealed by chromosome banding and FISH-mapping techniques. Cytogenet Genome Res 126:49–62

    Article  PubMed  CAS  Google Scholar 

  • Liu GE, Hou Y, Zhu B et al (2010) Analysis of copy number variations among diverse cattle breeds. Genome Res 20:693–703

    Article  PubMed  CAS  Google Scholar 

  • Lonergan P, Kommisrud E, Andresen O et al (1994) Use of semen from a bull heterozygous for the 1;29 translocation in an IVF program. Theriogenology 41:1379–1384

    Article  PubMed  CAS  Google Scholar 

  • Mahjoub M, Mehdi M, Brahem S et al (2011) Chromosomal segregation in spermatozoa of five Robertsonian translocation carriers t(13;14). J Assist Reprod Genet 28:607–613

    Article  PubMed  Google Scholar 

  • Ogur G, Van Assche E, Vegetti W et al (2006) Chromosomal segregation in spermatozoa of 14 Robertsonian translocation carriers. Mol Hum Reprod 12:209–215

    Article  PubMed  CAS  Google Scholar 

  • Popescu CP, Pech A (1991) Une bibliographie sur la translocation 1/29 de bovines dans le monde (1964–1990). Ann Zootech 40:271–305

    Article  Google Scholar 

  • Schmutz SM, Moker JS, Barth AD, Mapletoft RJ (1991) Embryonic loss in superovulated cattle caused by the 1;29 Robertsonian translocation. Theriogenology 35:705–714

    Article  PubMed  CAS  Google Scholar 

  • Schulman NF, Sahana G, Lund MS et al (2008) Quantitative trait loci for fertility traits in Finnish Ayrshire cattle. Genet Sel Evol 40:195–214

    PubMed  Google Scholar 

  • Switoński M, Gustavsson I, Plöen L (1987) The nature of the 1;29 translocation in cattle as revealed by synaptonemal complex analysis using electron microscopy. Cytogenet Cell Genet 44:103–111

    Article  PubMed  Google Scholar 

  • Vozdova M, Kubickova S, Cernohorska H, Rubes J (2008) Detection of translocation rob(1;29) in bull sperm using a specific DNA probe. Cytogenet Genome Res 120:102–105

    Article  PubMed  CAS  Google Scholar 

Download references

Acknowledgments

We are grateful to the CRB GADIE (INRA, Jouy-en-Josas, France) for providing cattle-specific BACs and to Prof. Mariano Rocchi (Di.Ge.Mi, Bari, Italy) for providing human-specific BACs. We are also grateful to ANABIC employers for providing fresh blood from subjects carrying rob(1;29) and Domenico Incarnato, CNR-ISPAAM of Naples, for his excellent technical assistance. This study was partially supported by PSR, Misura 214, e2 of Campania Region, Project “Razze Autoctone a Rischio di Estinzione della Regione Campania–RARECa.”

Author information

Authors and Affiliations

  1. Department of Agricultural and Environmental Sciences, Milan University, Via Celoria 2, 20133, Milan, Italy

    Lisa De Lorenzi, Michele Zannotti, Luca Malagutti, Luciano Molteni & Pietro Parma

  2. National Research Council (CNR), ISPAAM, Laboratory of Animal Cytogenetics and Gene Mapping, Naples, Italy

    Viviana Genualdo, Angela Perucatti, Alessandra Iannuzzi & Leopoldo Iannuzzi

  3. Department of Genetic and Laboratory Medicine, Geneva University Hospital, Geneva, Switzerland

    Stefania Gimelli

  4. Medical Genetics, University of Pavia, Pavia, Italy

    Elena Rossi

Authors
  1. Lisa De Lorenzi
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Viviana Genualdo
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Stefania Gimelli
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Elena Rossi
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Angela Perucatti
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. Alessandra Iannuzzi
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. Michele Zannotti
    View author publications

    You can also search for this author in PubMed Google Scholar

  8. Luca Malagutti
    View author publications

    You can also search for this author in PubMed Google Scholar

  9. Luciano Molteni
    View author publications

    You can also search for this author in PubMed Google Scholar

  10. Leopoldo Iannuzzi
    View author publications

    You can also search for this author in PubMed Google Scholar

  11. Pietro Parma
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Pietro Parma.

Additional information

Responsible Editor: Herbert Macgregor.

Lisa De Lorenzi and Viviana Genualdo contributed equally to this work.

Electronic supplementary material

Below is the link to the electronic supplementary material.

ESM 1

(PDF 121 kb)

ESM 2

(PDF 171 kb)

ESM 3

(DOC 32 kb)

Rights and permissions

Reprints and permissions

About this article

Cite this article

De Lorenzi, L., Genualdo, V., Gimelli, S. et al. Genomic analysis of cattle rob(1;29). Chromosome Res 20, 815–823 (2012). https://doi.org/10.1007/s10577-012-9315-y

Download citation

  • Received:

  • Revised:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s10577-012-9315-y

Keywords

Search

Navigation