Intronic variant in POU1F1 associated with canine pituitary dwarfism

The anterior pituitary gland secretes several endocrine hormones, essential for growth, reproduction and other basic physiological functions. Abnormal development or function of the pituitary gland leads to isolated or combined pituitary hormone deficiency (CPHD). At least 30 genes have been associated with human CPHD, including many transcription factors, such as POU1F1. CPHD occurs spontaneously also in mice and dogs. Two affected breeds have been reported in dogs: German Shepherds with a splice defect in the LHX3 gene and Karelian Bear Dogs (KBD) with an unknown genetic cause. We obtained samples from five KBDs presenting dwarfism and abnormal coats. A combined analysis of genome-wide association and next-generation sequencing mapped the disease to a region in chromosome 31 and identified a homozygous intronic variant in the fourth exon of the POU1F1 gene in the affected dogs. The identified variant, c.605-3C>A, resided in the splice region and was predicted to affect splicing. The variant's screening in three new prospective cases, related breeds, and ~ 8000 dogs from 207 breeds indicated complete segregation in KBDs with a carrier frequency of 8%, and high breed-specificity as carriers were found at a low frequency only in Lapponian Herders, a related breed. Our study establishes a novel canine model for CPHD with a candidate POU1F1 defect.

LINK BETWEEN OUTLINE EVALUATION AND BLOOD RELATIONSHIP COUNSINLY BREED, FROMING ANIMAL GENOTYPE

When developing Ayshire breed herds, we used breeding population of related breed: FAY – Finnish Ayshire, SRB – Swedish red, NRF – Norwegian red, CANAY – Canada red, ORDM – Danish red, the research on influence of their blood relation on exterior characteristics of cows is actual. Studied livestock (n=855) has the following blood parts: 56,5±0,55; 12,9±0,31; 10,7±0,16; 17,8±0,60; 0,7±0,08 % consequently. Classes according to blood part, %: 0.0; 0,1 - 12,5; 12,5 - 24,9; 25,0 - 37,4; 37,5 - 49,9; 50,0 - 62,4; 62,5 - 74,9; 75,0 - 87,4; more than 87,5. Blood relationship according to CAN have a positive impact on udder evaluation (+0,130ххх), general view (+0,155ххх), final (+0,164ххх) and identification mark UDC (+0,119ххх), but negative blood relationship according to FAY on general view (-0,138ххх), according to SRB and NRF breed – on udder evaluation (-0,163ххх; -0,111ххх) and final (-0,133ххх; -0,100хх). Difference between force coefficient influence of blood relationship on exterior features according to FAY and CAN ranges from 7,9 to 18,7 units, and on UDC and FLC s equal to 6,6 and 3,5 units. Joint effect of blood relationship according to FAY and CAN is lower on lineal feature, and on exterior indices it increases. For improvement of individual exterior features account must be taken of blood relationship element at proband according to particular related breed of Ayshire group of diary cattle, focusing on blood element on FAY and CAN and their combinations.

Polymorphism of the kappa-casein gene in two Bosnian autochthonous cattle breeds

Buša is an old endangered autochthonous breed of the western Balkan, especially Bosnia-Herzegovina, Kosovo and Albania. A related breed is Gatačko, derived from Buša × Tirolean Grey crossbreds. Fifteen purebred Buša cattle and thirteen Gatačko animals were genotyped for polymorphisms at the kappa-casein gene by a Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLP) essay. The alleles A, B and C were found and the allelic frequencies were 0.46 (A), 0.46 (B) and 0.08 (C) in Buša cattle and 0.58 (A) and 0.42 (B) in Gatačko. Only AA, AB, BB and BC genotypes occurred. Further alleles were not detected and are therefore either absent in both populations or rare. The allele »B« found in this small population will be useful for a sire selection program in the future.

Ram mating performance in Border Leicesters and related breed types. 3. Relationships of ram serving capacity, testis diameter, liveweight, breed and age with flock fertility

Relationships of ram serving capacity (a measure of serving frequency in pen tests), testis diameter, liveweight, breed and age with flock fertility were studied in 40 rams joined individually for 7 days at high ewe:ram ratios. Rams were either Border Leicester, BLI (a high prolificacy line derived from the Border Leicester and Merino and since released as the Glen Vale breed) or BLI x Border Leicester, and aged either 1.5 or 2.5 years. Joinings were over 2 periods, 2-9 April or 16-23 April. Breed, age, period and interaction effects were also examined. On average (± s.e.), the number of ewes with mating marks in 7 days increased by 2.03 ± 0.52 ( P < 0.001) per serve per hour of serving capacity and by 0.40 ± 0.18 ( P < 0.05) per kg liveweight. Relationships with pregnancy rate in marked ewes differed between classes of rams. Larger testes were of most benefit when rams were of high serving capacity ( P < 0.0 1 ) or low liveweight (P<0.01). Only serving capacity was related to number of ewes pregnant, the number increasing by an average (± s.e.) of 1.73 ± 0.57 ewes per serve per hour (P<0.01). This suggests that a ram's capacity for more frequent service was more important to fertility than was extra testicular tissue. BLI x Border Leicester, BLI, and 2.5-year-old Border Leicester rams impregnated 30-40% more ewes than did 1.5-year-old Border Leicester rams. We estimate that the 1.5-year-old Border Leicester rams could be satisfactorily joined to about 46 ewes and the other rams to about 60 ewes.

Ram mating performance in Border Leicesters and related breed types. 2. Comparison of the performance of rams that were sexually active and inactive in pen tests

The mating performances of 15 rams which were initially sexually inactive were examined by allowing them constant exposure to three oestrous ewes per day. Two rams did not mount or serve any ewes in 17 days of exposure. When the 13 remaining rams began to raddle ewes their mating performance was compared with that of active rams. Active and inactive rams raddled and inseminated similar numbers of oestrous ewes, suggesting that inactive rams are adequate performers at loads of three oestrous ewes per day once they commence mating. Over a total of 12 h direct observation, however, inactive rams performed significantly fewer mounts and serves than active rams.

Ram mating performance in Border Leicesters and related breed types. 1. Pen test performance and measures of testis diameter

Sexual activity, serving capacity, mean number of mounts per serve and mean testis diameter were measured in 286 Border Leicester, BLI (a 'high fertility' sheep related to the Border Leicester) and BLI x Border Leicester rams at 1.5, 2.5 or 3.5 years of age. Rams were allowed two 20-minute introductory periods with spayed oestrous ewes, and then were given two 1-h pen mating tests during which their serving capacity (the mean number of serves in the two tests) and mounts per serve were counted. Rams which commenced mounting in introductory or 1-h tests were classed as sexually active. Among 1-5 and 2.5-year-old rams, 68.9 and 65.4%, respectively, were sexually active, while all 3.5-year-old rams were active. Mean testis diameters for inactive rams were smaller (P<0.05) than for active rams in both 1.5- and 2.5-year-old rams. There were breed type differences in activity, serving capacity and mean testis diameter at 1.5 years of age, but not at other ages. BLIs were less active at 1.5 years than other types, but BLIs and Border Leicesters did not differ in either their serving capacity or testis diameter. BLI x Border Leicesters generally had greater (P<0.05) serving capacities and testis diameters than other types, suggesting possible advantages for these rams at early joinings. Sire effects for serving capacity were not significant, but were significant (P<0.05) for mounts per serve, and for testis diameter at 1.5 years old. Activity status was highly repeatable (0.83) between 1.5 and 2.5 years and testis diameter was moderately repeatable (0.41). Repeatabilities for serving capacity and mounts per serve, in active rams, were not significant. Correlations between serving capacity and testis diameter were not significant for active rams, while serving capacity and mounts per serve were generally negatively related. Mean testis diameter was significantly (P<0.05) correlated with liveweight at 1.5 years but not at other ages. Liveweight at 2.5 years was positively (P<0.05) related to mounts per serve and negatively (P<0.05) related to serving capacity.