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Genetic basis and improvement of 
reproductive traits 
Aynalem Haile and Mourad Rekik (ICARDA) 
EIAR-DBARC-ICARDA-ILRI (LIVES)-FAO Training on 
Reproduction in Sheep and Goat, Debre Berhan, 
Ethiopia, 13-15 October 2014
Reproduction: is a complex composite trait 
influenced by many components including puberty, 
ovulation, estrus, fertilization, embryo 
implantation, pregnancy, parturition, lactation, and 
mothering ability. 
Breeding and Reproduction---Objectives 
• Improved lamb production 
• More lambs per lambing 
• More frequent lambing 
• Increased percent of total sheep nos. 
• Reducing death losses
The production systems 
• Crop-livestock systems where genetic interventions can 
make a difference 
• Pastoral & semi-pastoral systems in which adaptation is 
critical 
3
• Crop-livestock systems 
– Medium to high potential areas 
– Individual/family enterprises 
– Limited land 
– Medium to high productivity breeds 
• Pastoral & semi-pastoral systems 
– Large herds/flocks 
– Dictates of climate 
– Mobility 
– Indigenous breeds 
– Strong community values 
4
Scenarios 
• Fluctuation and poor 
quality of the feeding 
resources 
• Insufficient health 
care 
• Poor housing 
conditions 
• Fragile economic 
asset 
Reproduction is 
adversely affected
Consequences for reproduction 
Sheep and goat breeds of arid and semi arid zones are often late-maturing 
animals, have a delayed puberty, shorter production life-time 
later than in more favourable natural conditions. 
Productive outputs are limited, within other causes, by long 
anoestrus periods and low fertility and prolificacy. 
Furthermore, in utero undernutrition, a very common event when 
pregnant dams are inadequately fed under arid and semi arid 
conditions, contributes to a reduced reproductive fitness of the 
progeny
Large genetic differences 
Between species 
• Goats are more strict 
seasonal breeders than sheep 
• Goats are in average more 
prolific than sheep 
Within breed variability 
Between breeds 
• Late maturing vs. early 
maturing breeds 
• Existence of natural prolific 
strains
Characteristics of the reproductive traits to 
be improved 
• Economically important (fertility, litter size vs. 
return to oestrus) 
• Expression at the individual level (litter size vs. 
Prolificacy) 
• Easiness of measure (litter size vs. ovulation rate) 
• Cost of measure 
• Existence of variability !!!!!!
Factors affecting reproduction in the 
ewe 
• Heredity 
• Age 
• Photoperiod (seasonal) 
• Temperature and humidity 
• Nutrition and Exercise 
• Parturition and lactation 
• Disease and parasites 
• Fertility of & assoc. with the ram
Factors affecting the reproduction in 
the Ram 
• Breeding soundness exam 
• Palpation of the testicles, epididymis, and 
penis and visual appraisal of feet, legs, eyes 
and jaws. 
• Semen evaluation 
• Disease prevention 
• Heat stress
Desirable traits for accelerated 
lambing 
• Ewes can breed year round 
• Ewes that can mate while lactacting 
• Ewes that have a good lambing rate (ie 
twinning) 
• Sires that produce a desirable market lamb 
and have the libido and fertility for conception 
year round
Genetic effects 
• Although component traits of reproduction are 
under the influence of many genes, a limited number 
of major genes associated with separate components 
of reproduction have been reported in sheep 
• Expressions of the genetic effects on reproduction 
are affected by numerous environmental factors such 
as season, climatic conditions, management, health, 
nutrition, ram to ewe breeding ratio, age of ewe, and 
ram libido and fertility. Because genetic and 
environmental factors interact, genetic improvement 
of reproduction is very complicated.
• Selection for a single component of reproduction 
such as ovulation rate, litter size at birth or number 
of lambs weaned has commonly been practiced. 
However, selection for a single component of a 
composite trait does not always result in an overall 
improvement of a complex trait such as reproduction 
• The relevance of the different reproductive traits is 
not the same and also differs among species. 
• In meat sheep production, litter size and days to 
lambing are two of the most important traits
Sex Expression 
Mainly in females 
• Age at puberty 
• Age at first lambing 
• Fertility 
• Litter size at lambing 
• Litter size at weaning 
• Lambing interval 
• Productive lifetime 
Little attention in males 
• Scrotal diameter??? 
• Libido and sexual 
aggressiveness???
Heredity basis of reproductive traits 
• For most breeds, 
reproductive traits are 
quantitative traits: 
progress is obtained by 
transmission of the 
additive effects of genes 
• In some breeds or 
strains, litter size is 
influenced by major 
genes: alleles 
polymorphism in some 
known genes 
(≈ Mendelian trait)
Quantitative trait 
Composition of the phenotype variance 
δ2 
P = δ2 
G δ2 
E δ2 
GE 
16
2 categories of genetic effects 
• Due to the effect of random halving of the genome, we have 2 
fundamentally different categories of genetic effects: 
• Effects that come into play by mating an individual to a random 
sample of the population and are effective as the average of the 
offspring (= additive effects). 
• Effects determined by specific combination of gametes in a 
particular individual, but not the offspring (= dominance and 
epistatic effects). 
17
Splitting the genetic effect 
g = ga + do + ep 
• ga = "additive" gene effect (relevant for breeding value) 
– ga is the part of g, which comes into effect when the individual 
is mated to a representative sample of the population in the 
average of its offspring. 
• do = "dominance effect" 
– do is the part of g, not explained by ga and due to interactions 
of alleles of the same locus within a particular individual. 
• ep = "epistatic effect" 
– ep is the part of g, not explained by ga or do and due to 
interactions of alleles of different loci within a particular 
individual. 
18
Concept of heritability h2 
Heritability is the proportion of variation in a phenotype (trait, 
performance) that is thought to be caused by genetic variation 
among individuals. The remaining variation is usually 
attributed to environmental factors. A measure of 
the degree to which the variance in the distribution of 
a phenotype is due to genetic causes. 
- h2 < 10%: low heritability, low genetic progress by direct 
selection 
- 10% < h2 < 30% : moderate heritability, slow genetic progress 
by direct selection 
- h2 > 30% : high heritability, significant progress by direct 
selection
Estimates of heritability for basic and 
composite traits (Rosati, 2002) 
Conception Rate 0,06 
Number of lambs born 0,10 
Number of lambs born alive 0,05 
Number of lambs alive at weaning 0,01 
Litter mean weight per lamb born (kg) 0,13 
Litter mean weignt per lamb weaned (kg) 0,15 
Number of lambs born per ewe exposed 0,09 
Number of lambs weaned per ewe exposed 0,07 
Total litter weight at birth (kg) 0,4 
Total litter weight at weaning (kg) 0,17 
Total litter weight born per ewe exposed (kg) 0,13 
Total litter weight weaned per ewe exposed (kg) 0,11 
Lamb survival at weaning (%) 0,12
Major genes affecting litter size 
1. The BMPR 1B (Bone Morphogenetic Protein Receptor 
type 1B) gene has been mapped to sheep chromosome 6 
(“hyperprolific phenotype” of the Booroola sheep, 
Assaf??) 
2. The BMP15 (Bone Morphogenetic Protein 15) gene, has 
been mapped to sheep chromosome X (Rasa Aragonesa, 
Lacaune, Galway) 
3. The sheep GDF9 (Growth Differentiation Factor 9) gene 
maps to chromosome
The challenge 
• Regarding genetic improvement, available work has mainly 
focused on phenotypic selection, rather than using 
information on specific genetic factors (genotypic information) 
affecting these traits. 
• Nevertheless, reproductive traits are characterized by low 
heritabilities and a complex genetic basis and are thus difficult 
to improve using traditional selection methods. 
• Moreover, these traits are recordable only in one sex and late 
in the animal’s life. 
• These limitations have led to a growing interest in the 
identification and characterization of specific genes and 
genomic regions implicated in the variability and regulation of 
reproductive processes.
Breeding structures
Modern Breeding Structures 
Breeders 
Commercial flocks, 
community or base 
Breeders 
Multipliers 
Base flocks 
Gene flow (males) 
Mueller, 2008 
24
No breeding structures 
– Occurs in low input systems 
– Difficult for the breeder to detect the best animals with 
high precision 
– Difficult to organize a stratified mating in his flock 
– Less chance for gene inflow 
– Mating is at random within the flock 
– Genetic progress is slow, if any 
– Difficult to follow 
25
Nucleus Breeding Structure 
Nucleus 
Base 
Females Males 
“Open” to gene flow 
in any direction 
Mueller, 2008 26
Centralized and dispersed nucleus 
central 
nucleus 
dispersed 
nucleus 
Participating flocks Participating flocks 
Mueller, 2008 27
28
The higher the dissemination, the higher 
should be the BV and its accuracy 
Records 
BLUP analyses 
Records on 
relatives 
30% 
60% 
90% 
Genomic 
100% 
Visual 
Random 
0% 
Performance test 
Progeny test 
BLP analyses 
Sophistication of selection system 
Selection accuracy
Thank you

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Genetic basis and improvement of reproductive traits

  • 1. Genetic basis and improvement of reproductive traits Aynalem Haile and Mourad Rekik (ICARDA) EIAR-DBARC-ICARDA-ILRI (LIVES)-FAO Training on Reproduction in Sheep and Goat, Debre Berhan, Ethiopia, 13-15 October 2014
  • 2. Reproduction: is a complex composite trait influenced by many components including puberty, ovulation, estrus, fertilization, embryo implantation, pregnancy, parturition, lactation, and mothering ability. Breeding and Reproduction---Objectives • Improved lamb production • More lambs per lambing • More frequent lambing • Increased percent of total sheep nos. • Reducing death losses
  • 3. The production systems • Crop-livestock systems where genetic interventions can make a difference • Pastoral & semi-pastoral systems in which adaptation is critical 3
  • 4. • Crop-livestock systems – Medium to high potential areas – Individual/family enterprises – Limited land – Medium to high productivity breeds • Pastoral & semi-pastoral systems – Large herds/flocks – Dictates of climate – Mobility – Indigenous breeds – Strong community values 4
  • 5. Scenarios • Fluctuation and poor quality of the feeding resources • Insufficient health care • Poor housing conditions • Fragile economic asset Reproduction is adversely affected
  • 6. Consequences for reproduction Sheep and goat breeds of arid and semi arid zones are often late-maturing animals, have a delayed puberty, shorter production life-time later than in more favourable natural conditions. Productive outputs are limited, within other causes, by long anoestrus periods and low fertility and prolificacy. Furthermore, in utero undernutrition, a very common event when pregnant dams are inadequately fed under arid and semi arid conditions, contributes to a reduced reproductive fitness of the progeny
  • 7. Large genetic differences Between species • Goats are more strict seasonal breeders than sheep • Goats are in average more prolific than sheep Within breed variability Between breeds • Late maturing vs. early maturing breeds • Existence of natural prolific strains
  • 8. Characteristics of the reproductive traits to be improved • Economically important (fertility, litter size vs. return to oestrus) • Expression at the individual level (litter size vs. Prolificacy) • Easiness of measure (litter size vs. ovulation rate) • Cost of measure • Existence of variability !!!!!!
  • 9. Factors affecting reproduction in the ewe • Heredity • Age • Photoperiod (seasonal) • Temperature and humidity • Nutrition and Exercise • Parturition and lactation • Disease and parasites • Fertility of & assoc. with the ram
  • 10. Factors affecting the reproduction in the Ram • Breeding soundness exam • Palpation of the testicles, epididymis, and penis and visual appraisal of feet, legs, eyes and jaws. • Semen evaluation • Disease prevention • Heat stress
  • 11. Desirable traits for accelerated lambing • Ewes can breed year round • Ewes that can mate while lactacting • Ewes that have a good lambing rate (ie twinning) • Sires that produce a desirable market lamb and have the libido and fertility for conception year round
  • 12. Genetic effects • Although component traits of reproduction are under the influence of many genes, a limited number of major genes associated with separate components of reproduction have been reported in sheep • Expressions of the genetic effects on reproduction are affected by numerous environmental factors such as season, climatic conditions, management, health, nutrition, ram to ewe breeding ratio, age of ewe, and ram libido and fertility. Because genetic and environmental factors interact, genetic improvement of reproduction is very complicated.
  • 13. • Selection for a single component of reproduction such as ovulation rate, litter size at birth or number of lambs weaned has commonly been practiced. However, selection for a single component of a composite trait does not always result in an overall improvement of a complex trait such as reproduction • The relevance of the different reproductive traits is not the same and also differs among species. • In meat sheep production, litter size and days to lambing are two of the most important traits
  • 14. Sex Expression Mainly in females • Age at puberty • Age at first lambing • Fertility • Litter size at lambing • Litter size at weaning • Lambing interval • Productive lifetime Little attention in males • Scrotal diameter??? • Libido and sexual aggressiveness???
  • 15. Heredity basis of reproductive traits • For most breeds, reproductive traits are quantitative traits: progress is obtained by transmission of the additive effects of genes • In some breeds or strains, litter size is influenced by major genes: alleles polymorphism in some known genes (≈ Mendelian trait)
  • 16. Quantitative trait Composition of the phenotype variance δ2 P = δ2 G δ2 E δ2 GE 16
  • 17. 2 categories of genetic effects • Due to the effect of random halving of the genome, we have 2 fundamentally different categories of genetic effects: • Effects that come into play by mating an individual to a random sample of the population and are effective as the average of the offspring (= additive effects). • Effects determined by specific combination of gametes in a particular individual, but not the offspring (= dominance and epistatic effects). 17
  • 18. Splitting the genetic effect g = ga + do + ep • ga = "additive" gene effect (relevant for breeding value) – ga is the part of g, which comes into effect when the individual is mated to a representative sample of the population in the average of its offspring. • do = "dominance effect" – do is the part of g, not explained by ga and due to interactions of alleles of the same locus within a particular individual. • ep = "epistatic effect" – ep is the part of g, not explained by ga or do and due to interactions of alleles of different loci within a particular individual. 18
  • 19. Concept of heritability h2 Heritability is the proportion of variation in a phenotype (trait, performance) that is thought to be caused by genetic variation among individuals. The remaining variation is usually attributed to environmental factors. A measure of the degree to which the variance in the distribution of a phenotype is due to genetic causes. - h2 < 10%: low heritability, low genetic progress by direct selection - 10% < h2 < 30% : moderate heritability, slow genetic progress by direct selection - h2 > 30% : high heritability, significant progress by direct selection
  • 20. Estimates of heritability for basic and composite traits (Rosati, 2002) Conception Rate 0,06 Number of lambs born 0,10 Number of lambs born alive 0,05 Number of lambs alive at weaning 0,01 Litter mean weight per lamb born (kg) 0,13 Litter mean weignt per lamb weaned (kg) 0,15 Number of lambs born per ewe exposed 0,09 Number of lambs weaned per ewe exposed 0,07 Total litter weight at birth (kg) 0,4 Total litter weight at weaning (kg) 0,17 Total litter weight born per ewe exposed (kg) 0,13 Total litter weight weaned per ewe exposed (kg) 0,11 Lamb survival at weaning (%) 0,12
  • 21. Major genes affecting litter size 1. The BMPR 1B (Bone Morphogenetic Protein Receptor type 1B) gene has been mapped to sheep chromosome 6 (“hyperprolific phenotype” of the Booroola sheep, Assaf??) 2. The BMP15 (Bone Morphogenetic Protein 15) gene, has been mapped to sheep chromosome X (Rasa Aragonesa, Lacaune, Galway) 3. The sheep GDF9 (Growth Differentiation Factor 9) gene maps to chromosome
  • 22. The challenge • Regarding genetic improvement, available work has mainly focused on phenotypic selection, rather than using information on specific genetic factors (genotypic information) affecting these traits. • Nevertheless, reproductive traits are characterized by low heritabilities and a complex genetic basis and are thus difficult to improve using traditional selection methods. • Moreover, these traits are recordable only in one sex and late in the animal’s life. • These limitations have led to a growing interest in the identification and characterization of specific genes and genomic regions implicated in the variability and regulation of reproductive processes.
  • 24. Modern Breeding Structures Breeders Commercial flocks, community or base Breeders Multipliers Base flocks Gene flow (males) Mueller, 2008 24
  • 25. No breeding structures – Occurs in low input systems – Difficult for the breeder to detect the best animals with high precision – Difficult to organize a stratified mating in his flock – Less chance for gene inflow – Mating is at random within the flock – Genetic progress is slow, if any – Difficult to follow 25
  • 26. Nucleus Breeding Structure Nucleus Base Females Males “Open” to gene flow in any direction Mueller, 2008 26
  • 27. Centralized and dispersed nucleus central nucleus dispersed nucleus Participating flocks Participating flocks Mueller, 2008 27
  • 28. 28
  • 29. The higher the dissemination, the higher should be the BV and its accuracy Records BLUP analyses Records on relatives 30% 60% 90% Genomic 100% Visual Random 0% Performance test Progeny test BLP analyses Sophistication of selection system Selection accuracy