Haplotypes Impacting Fertility

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Haplotypes Impacting Fertility
With our growing knowledge about the bovine genome, experts have predicted for some time that we’d likely discover numerous cattle genetic
defects. Human genetic researchers estimate that we each carry four or five genetic defects. It’s reasonable to expect that these exist at a similar
level in cattle.
USDA researchers along with international collaborators have now identified nine haplotypes that appear to cause embryo loss or stillbirths when
these haplotypes exist in the homozygous state. These were discovered by taking the full SNP50 genotype database of cows and bulls used for
genomic evaluations and studying the frequency of the various haplotypes. Those haplotypes that meet two conditions, 1) there are no live individuals
that are homozygous for this haplotype and 2) there is an observed reduction in conception rate or increase in stillbirths when carrier sires were
mated to cows sired by carrier bulls are added to the list of haplotypes that are labeled and tracked.
These genetic conditions have not been directly observed and we do not know the exact genetic or biological cause of why the embryos or fetuses
are not viable. Because of this, they’ve been given simple names of Holstein Haplotype 1 (HH1), Holstein Haplotype 2 (HH2), Holstein Haplotype 3
(HH3), Holstein Haplotype 4 (HH4), Holstein Haplotype 5 (HH5), Jersey Haplotype 1 (JH1) and Brown Swiss Haplotype 1 (BH1), Brown Swiss
Haplotype 2 (BH2) and Ayrshire Haplotype 1 (AH1). These haplotypes appear to have a recessive mode of inheritance where animals with zero or one
copy of the haplotype are completely normal. Those that inherit two copies of the haplotype are lost as embryos or are stillborn.
The impacts of these haplotypes vary and are dependent on their frequency in the population and at what stage of gestation the pregnancies are
lost. JHI has a frequency of 23.4%. BHI exists at a frequency of 14 percent and BH2 exists at a frequency of 20.5 percent. Only one haplotype has
been discovered in the Ayrshire breed (AH1) and it exists at the highest frequency of 26.1 percent. HH1, HH2, HH3 and HH5 all have similar frequencies (4.5%, 4.6%, 4.7% and 4.8%, respectively). HH4 exists at a much lower frequency of 0.7 percent. Haplotypes with a higher population frequency
and those that cause pregnancy loss later in gestation lead to larger losses of profitability. It’s important to realize that the negative impact of these
haplotypes is already accounted for in the routinely published sire conception rate (SCR) evaluations and daughter pregnancy rate (DPR) genomic
evaluations. So, if you are using these traits in selecting your A.I. sires, you’re already avoiding or compensating for these new genetic conditions.
The haplotypes each represent a distinct and unique genetic condition. They are not related to each other. The haplotypes have no impact when a
bull that is heterozygous for HH1 is mated to a cow that is heterozygous for HH2. The risk is only experienced when animals are heterozygous for the
same haplotype.
Select Mating Service (SMS) is an excellent tool for managing these genetic conditions. By using the SMS program, herds with at least one generation of pedigree information on their cows can use heterozygous bulls with less than 1 percent chance of lost pregnancies from known conditions.
7HO9222
Shot
7HO9281
Bigshot
7HO10375 Mr Mudd
7HO10406 Dashawn
7HO10429 Montney
7HO10585 Helix
7HO10702 Excel
7HO10723 Spur
7HO10884 Avery
7HO11279 Moonboy
7HO11283 Mayfield
7HO11402 Tavir
7HO11424 Offie
7HO11488 Branson
7JE1038
Valentino
7JE1151
Galvanize
7JE1163
Irwin
7AY109
Dixon
7BS871
Advisor
7BS873
Shaw
7BS878
Dimes-P
507HO12107 Loar
7HO12131 Mcgirt
7HO12175 Wonka
7HO12310 Bankroll
HH5C
HH3C
HH3C
HH2C
HH3C
HH5C
HH4C
HH3C
HH3C
HH3C
HH3C
HH3C
HH2C
HH5C
JH1C
JH1C
JH1C
AH1C
BH1C
BH2C
BH1C
HH5C
HH3C
HH3C
HH3C
7HO12322 Delfino
7HO12357 Penley
7HO12387 Madron
7HO12409 Mirage-Red
7HO12431 Ridge-P
7HO12440 The Dude
7HO12441 Maven
7HO12443 Plus-PP
7HO12477 Radman
7HO12518 Snowboy
7HO12533 Hotshot
7HO12555 Mansfield-P
7HO12588 Oh Boy-PP
7HO13035 Modesto
7JE1348
Citation
7JE1385
Moore
7HO13035 Modesto
7JE1348
Citation
7JE1385
Moore
250HO1117 Caption
250HO12420 Miksa
250HO12589 Jacoby
250HO13165 Ripper
HH2C
HH3C
HH3C
HH3C
HH5C
HH3C
HH5C
HH2C
HH3C
HH3C
HH5C
HH3C
HH3C
HH5C
JH1C
JH1C
HH5C
JH1C
JH1C
HH3C
HH3C
HH5C
HH3C
08/2015
Holstein Haplotype for Cholesterol Deficiency (HCD)
At the 2015 Interbull Annual Meeting, German researchers reported that they had discovered a new genetic
defect in Holstein dairy cattle. The defect, Haplotype for Cholesterol Deficiency (HCD), causes young calves
to die if homozygous for HCD. Unlike previous haplotypes that cause early embryo loss, this haplotype creates a greater economic loss. Even though calf survival has a low heritability, Paul VanRaden of the USDA
Animal Genomics and Improvement Laboratory (AIPL), recommends avoiding recessive defects by using
sound selection and mating programs.
The defective haplotype traces back to Maughlin Storm. Storm’s sire and maternal grandsire do not carry
HCD. This suggests that HCD is a result of a recent mutation that first appeared in Storm or his dam.
Influential descendants of Storm that also carry HCD are Stormatic, September Storm and Goldwyn.
Unfortunately, the haplotype carrying the defect is difficult to track. Part of the difficulty is caused because
descendants of Comestar Laurie Sheik and Comestar Outside appear to have the HCD haplotype but do not
appear to produce affected calves. For animals that have the haplotype and have both Storm and Outside in
their pedigrees, it’s difficult to know whether they transmit the defective condition or not.
Animals that don’t have the haplotype will be labeled as non-carriers. Animals that have the haplotype and
it’s determined the haplotype came from Storm will be labeled as carriers. Those animals that have the haplotype and it’s determined the haplotype came from Outside will be labeled as non-carriers. Those animals
that have the haplotype and it can’t be determined whether it came from Storm or Outside will be labeled as
suspect.
250HO1123
7HO9264
7HO10848
7HO10884
7HO11163
7HO11703
7HO12170
7HO12580
7HO12626
7HO13276
Motivator
Dempsey
Grafeeti
Avery
Ladd P-Red
Armani
Corey
Bosa
Manny-Red
Bowen
HCDC
HCDC
HCDC
HCDC
HCDC
HCDC
HCDC
HCDC
HCDC
HCDS
08/2015
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