U.S. flagAn official website of the United States government
                    Here's how you know **Official websites use .gov**
                            
                            A **.gov** website belongs to an official government organization in the United States.
 **Secure .gov websites use HTTPS**
                            
                            A **lock** (                            
                              A locked padlock                                                      
                            
                            ) or **https://** means you’ve safely connected to the .gov website. Share sensitive information only on official, secure websites.


Menu Agricultural Research Service
						
                    U.S. DEPARTMENT OF AGRICULTURE
 close



Research
                Research Home
                            National Programs
                            Research Projects
                            Scientific Manuscripts
                            International Engagement
                            Scientific Software/Models
                            Databases and Datasets
                            Office of Scientific Quality Review
            Media
                News & Features
                            Multimedia
                            Briefing Room
                            Down on the Farm
                            Press Room
                            Science in Your Shopping Cart
                            Scientific Discoveries
                            Tellus
                            Under the Microscope
            About ARS
                About ARS Home
                            Staff Directory
                            Labs and Research Centers (Map)
                            Headquarter Offices
                            Organizational Chart
                            Employee Services (REE Employees Only)
                            Office of Outreach, Diversity, and Equal Opportunity
            Work With Us
                Work With Us Home
                            ARS Vacancies at USAJOBS
                            Careers at ARS Information
                            Scientific Collaborations
                            Extramural Agreements
                            1890 Faculty Research Sabbatical ProgramSearch small
                    Search
            
            ARS Home
                                About ARS
                                Contact Us




ARS Home Research Publications at this Location





- ARS National Programs
- Search for a scientific manuscript
- Search for a research project
- ARS Software
- Programs and Projects
- Collaborations
- Subjects of Investigation
- Publications

Title:   Author  item
                                            HOU, YALI - University Of Marylanditem
                                            Bickhart, Derekitem
                                            HVINDEN, MIRANDA - Pfizer Animal Healthitem
                                            Li, Congjun

                                                         - *Cj*item
                                            SONG, JIUZHOU - University Of Marylanditem
                                            BOICHARD, DIDIER - Institut National De La Recherche Agronomique (INRA)item
                                            FRITZ, SEBASTIEN - Collaboratoritem
                                            EGGEN, ANDRE - Collaboratoritem
                                            DENISE, SUE - Pfizer Animal Healthitem
                                            Wiggans, Georgeitem
                                            Sonstegard, Taditem
                                            Van Tassell, Curtis

                                                         - *Curt*item
                                            Liu, Ge

                                                         - *George*
  Submitted to: BMC Genomics
                                    Publication Type: Peer Reviewed Journal
                                    Publication Acceptance Date: 7/25/2012
                                    Publication  Date: 8/6/2012
                                    Citation: Hou, Y., Bickhart, D.M., Hvinden, M.L., Li, C., Song, J., Boichard, D.A., Fritz, S., Eggen, A., Denise, S., Wiggans, G.R., Sonstegard, T.S., Van Tassell, C.P., Liu, G. 2012. Fine mapping of copy number variations on two cattle genome assemblies using high density SNP array. Biomed Central (BMC) Genomics. 13:376.Interpretive Summary: Genome assemblies are the foundation of genome research. There exist two distinct cattle assemblies: Btau_4.0 and UMD3.1. We compared these two assemblies and their impacts on the ability to identify gene copy number variation (CNV) within the cattle genome. We observed about 50% more and 20% longer CNVs on UMD3.1 than on Btau_4.0, suggesting UMD3.1 is a better representation of the reference cattle genome.  Farmers, scientist, and policy planners who need to improve animal health and production based on genome-enabled animal selection will benefit from this research.
                                Technical Abstract: Btau_4.0 and UMD3.1 are two distinct cattle reference genome assemblies. In our previous study using the low density BovineSNP50 array, we reported a copy number variation (CNV) analysis on Btau_4.0 with 521 animals of 21 cattle breeds, yielding 682 CNV regions with a total length of 139.8 megabases. 

Results:
In this study using the high density BovineHD SNP array, we performed high resolution CNV analyses on both Btau_4.0 and UMD3.1 with 674 animals of 27 cattle breeds. We first compared CNV results derived from these two different SNP array platforms on Btau_4.0. With two thirds of the animals shared between studies, on Btau_4.0 we identified 3,346 candidate CNV regions representing 142.7 megabases (~4.70%) of the genome. With a similar total length but 5 times more event counts, the average CNVR length of current Btau_4.0 dataset is significantly shorter than the previous one (42.7kb vs. 205 kb). Although subsets of these two results overlapped, 64% (91.6 megabases) of current dataset was not present in the previous study. We also performed similar analyses on UMD3.1 using these BovineHD SNP array results. Approximately 50% more and 20% longer CNVs were called on UMD3.1 as compared to those on Btau_4.0. However, a comparable result of CNVRs (3,438 regions with a total length 146.9 megabases) was obtained. We suspect that these results are due to that UMD3.1’s efforts of placing unplaced contigs and removing unmerged alleles. Selected CNVs were further experimentally validated, achieving a 73% PCR validation rate, which is considerably higher than the previous validation rate. About 20-45% of CNV regions overlapped with cattle RefSeq genes and Ensembl genes. Panther and IPA analyses indicated that these genes provide a wide spectrum of biological processes involving immune system, lipid metabolism, cell, organism and system development.

Conclusion:
We present a comprehensive result of cattle CNVs at a higher resolution and sensitivity. We identified over 3,000 candidate CNV regions on both Btau_4.0 and UMD3.1, further compared current datasets with previous results, and examined the impacts of genome assemblies on CNV calling.


Return to top


Connect with ARS Sign up


ARS Home
                            USDA.gov
                            Plain Writing
                            Policies & Links
                            Civil Rights Statements
                            FOIA
                            Accessibility Statement
                            Privacy Policy
                            Non-Discrimination Statement
                            Quality of Information
                            USA.gov
                            WhiteHouse.gov