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H. D. Norman Animal Improvement Programs Laboratory Agricultural Research Service, USDA Beltsville, MD 20705-2350 [email protected] DRMS annual meeting (1) 201 1 AIPL Research Update

AIPL Research Update

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AIPL Research Update. Topic 1. Effect of bulk-tank SCC standard. DHI noncompliance by herd size – 1. 3 of 5 consecutive BTSCC tests exceeding a limit of 750,000 cells/mL 600,000 cells/mL 500,000 cells/mL 400,000 cells/mL. - PowerPoint PPT Presentation

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H. D. Norman

Animal Improvement Programs LaboratoryAgricultural Research Service, USDA Beltsville, MD 20705-2350

[email protected] annual meeting (1) 2011

AIPL Research Update

NormanDRMS annual meeting (2) 2011

Topic 1

Effect of bulk-tankSCC standard

NormanDRMS annual meeting (3) 2011

DHI noncompliance by herd size – 1

3 of 5 consecutive BTSCC testsexceeding a limit of

750,000 cells/mL 600,000 cells/mL 500,000 cells/mL 400,000 cells/mL

NormanDRMS annual meeting (4) 2011

DHI noncompliance by herd size – 2

4 consecutive 3-mo geometric mean BTSCCexceeding a limit of

750,000 cells/mL 600,000 cells/mL

500,000 cells/mL 400,000 cells/mL

NormanDRMS annual meeting (5) 2011

DHI noncompliance by herd size – 3

3-mo geometric mean BTSCC exceeding limitplus next BTSCC test exceeding a limit of

750,000 cells/mL 550,000 cells/mL

NormanDRMS annual meeting (6) 2011

FMO noncompliance by marketed milk – 1

3 of 5 consecutive BTSCC testsexceeding a limit of

750,000 cells/mL 600,000 cells/mL 500,000 cells/mL 400,000 cells/mL

NormanDRMS annual meeting (7) 2011

FMO noncompliance by marketed milk – 2

4 consecutive 3-mo geometric mean BTSCCexceeding a limit of

750,000 cells/mL 600,000 cells/mL 500,000 cells/mL 400,000 cells/mL

NormanDRMS annual meeting (8) 2011

FMO noncompliance by marketed milk – 3

3-mo geometric mean BTSCC exceeding limitplus next BTSCC test exceeding a limit of

750,000 cells/mL 550,000 cells/mL

NormanDRMS annual meeting (9) 2011

Topic 2

Genotyping

NormanDRMS annual meeting (10) 2011

New genotypes

0

1,000

2,000

3,000

4,000

5,000

6,000

9-10 10-10 11-10 12-10 1-11 2-11 3-11 4-11 5-11 6-11 7-11

50K and HD – 77,553 total

Totals as of July 2011

3K – 42,512 total

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Sex distribution – August 2010

Males61%

Females39%

All genotypes

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Sex distribution – July 2011

Males42%

All genotypes

Females58%

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3K sample characteristics

93% of 3K genotypes are from females

3K sample types include

− Hair (79%)

− Blood (10%)

− Nasal (10%)

− Semen (1%)

NormanDRMS annual meeting (14) 2011

Topic 3

Reporting of haplotypes with recessive effects

on fertility

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Introduction

5 haplotypes with recessive effects on fertility discovered Additive effects small and in EBVs All populations already carry these

At least 19 countries have “health” laws that exclude carriers of defects Only countries that test are banned?

Import restrictions make little sense

NormanDRMS annual meeting (16) 2011

Recessive defect discovery

Check for homozygous haplotypes 7 – 90 expected, but none observed 5 of top 11 confirmed as lethal 936 – 52,449 carrier sire carrier MGS fertility

records 3.0 – 3.7% lower conception rates Some slightly higher stillbirth rates

Confirmed brachyspina same way

NormanDRMS annual meeting (17) 2011

Haplotypes affecting fertility

Name

BTA chromo-

someLocation, Mbases

Carrier frequency,

% Earliest known ancestors

HH1 5 62–68 4.5 Pawnee Farm Arlinda Chief

HH2 1 93–98 4.6 Willowholme Mark Anthony

HH3 8 92–97 4.7 Glendell Arlinda Chief,Gray View Skyliner

JH1 15 11–16 23.4 Observer Chocolate Soldier

BH1 7 42–47 14.0 West Lawn Stretch Improver

NormanDRMS annual meeting (18) 2011

Haplo-type

Additive effect, CR

Sire x MGS interaction

NR60NR100

NR140 CR280CVM –0.12 –0.9 –1.5 –1.9 –2.9

BY –0.46 –2.2 –2.3 –2.3 –2.5HH1 –0.35 –1.1 –1.6 –2.0 –3.1HH2 –0.36 –1.7 –3.0 –2.9 –3.0HH3 –0.36 –3.1 –3.4 –3.4 –3.2JH1 –2.22 –3.7 –3.7 –3.6 –3.7BH1 –0.98 –2.5 –3.7 –2.9 –3.4

Additive and nonadditive effects*

*Nonreturn rates or full gestation conception

NormanDRMS annual meeting (19) 2011

Haplo-type

Conception rateBull Service sire Heifer Cow

BY Ramos N/A +0.1 +5.2HH1 Lucius +3.1 +2.5 +2.5HH2 Colby +2.2 +5.2 +5.4HH3 O-Man +0.6 +2.1 +3.5JH1 Country –0.5 +2.7 +3.2BH1 Payoff +1.5 +1.5 +3.4

Carrier bulls with high fertility

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Using crossovers to fine map

Source

Combinedwithsource

SuspectareaCarrierPossible

75-marker haplotype (50K), about 5 Mbases

NormanDRMS annual meeting (21) 2011

Haplo-type

Crossover haplotypes

SNPs in suspect

area

That combined

with source

Within suspect

area

That contained

suspect areaBY 10 66 31 28

HH1 8 51 26 39HH2 9 38 15 25HH3 3 54 0 70JH1 10 22 19 17BH1 0 4 0 74

Crossovers used in fine mapping

NormanDRMS annual meeting (22) 2011

3 methods to detect carriers Use all genotypes and pedigrees One at a time (ignore pedigree) Find and test for causative mutation

Without vs. with haplotyping 2.5% false positives, 0.05% false negatives Similar to Georges et al. (2010) brachyspina

haplotype test

Detection without haplotyping

NormanDRMS annual meeting (23) 2011

Haplo-type

False positives, %

False negatives, %

Errorrate, %

BY 0.0 2.2 1.1HH1 0.4 6.4 3.4HH2 0.0 1.8 0.9HH3 0.2 2.8 1.5JH1 0.4 6.4 3.4

Detection with 3K genotypes*

*500 carriers, 500 noncarriers, with imputation

NormanDRMS annual meeting (24) 2011

Conclusions

Recessive defects found in each breed(HH1, HH2, HH3, JH1, BH1) Officially reported in August Most embryo losses at <60 days

Breeders should select for fertility (not against individual defects) and mate carriers to noncarriers

Crossovers used for fine mapping

NormanDRMS annual meeting (25) 2011

Acknowledgment

Paul VanRaden (AIPL) discovered the haplotypes that affect fertility with the assistance of:

Dan Null (AIPL)Katie Olson (NAAB)Jana Hutchison (AIPL)