X-linked retinitis pigmentosa (xlRP) is a severe progressive retinal degeneration which affects about 1 in 25,000 of the population. The most common form of xlRP, RP3, has been localised to the interval between CYBB and OTC in Xp21.1 by linkage analysis and deletion mapping. Identification of microdeletions within this region has now led to the positional cloning of a gene, RPGR, that spans 60 kg of genomic DNA and is ubiquitously expressed. The predicted 90 kD protein contains in its N-terminal half a tandem repeat structure highly similar to RCC1 (regulator of chromosome condensation), suggesting an interaction with a small GTPase. The C-terminal half contains a domain, rich in acidic residues, and ends in a potential isoprenylation anchorage site. The two intragenic deletions, two nonsense and three missense mutations within conserved domains provide evidence that RPGR (retinitis pigmentosa GTPase regulator) is the RP3 gene.

Genetic factors can interfere with sporting performance. The identification of genetic predisposition of soccer players brings important information to trainers and coaches for individual training loads adjustment. Different responses to eccentric training could be observed by the genotype referred to as α-actinin-3 (ACTN3) in biomarkers of muscle damage, hormones and inflammatory responses. The aim of this study was to compare acute inflammatory responses, muscle damage and hormonal variations according to the eccentric training in soccer professional athletes with different genetic profiles of ACTN3 (XX, RX and RR). 37 soccer professional athletes (9 XX, 13 RX, 15 RR) were randomly divided into five stations associated to eccentric muscle contraction and plyometrics. Blood samples were taken from athletes pre-eccentric training, immediately after (post), 2- and 4-h post-eccentric training to determine hormone responses (cortisol and testosterone), muscle damage (CK and α-actin), and inflammatory responses (IL-6). After eccentric training, athletes XX presented higher levels for CK (4-h post), α-actin (post and 2-h post) and cortisol (post) compared to RR and RX athletes. However, RR and RX athletes presented higher levels of testosterone (post) and IL-6 (2 h post and 4 h post) compared to athletes XX. The main conclusion of this study is that professional soccer athletes homozygous to ACTN3XX gene are more susceptible to eccentric damage and present a higher catabolic state, demonstrated by metabolic, hormonal and immune responses post an eccentric training, in comparison to ACTN3RR and ACTN3RX groups.

Sports efficiency in activities in which strength and speed are the determining factors has been associated to the ACTN3 gene, which is responsible for the expression of α-actinin-3. Soccer is a mainly aerobic sport because of its long duration, but the acute actions that define the game demand a lot of strength and speed. The purpose of the present study was to compare the performance capacity of soccer players with different genotype groups of ACTN3 (XX, RX, and RR) in strength, speed, and endurance tests. Two hundred professional players of Brazilian soccer first division teams participated in this study. Speed, jump, and endurance test results were compared with the polymorphisms of the ACTN3 gene. It was noticed that RR individuals spent less time to run a 10-m path, compared with XX individuals (p < 0.05). The RR individuals also presented lower time rates at the 20- and 30-m path, compared with RX and XX individuals (p < 0.05). In jump tests, RR individuals presented higher rates, compared with RX and XX individuals (p < 0.05). As for aerobic tests, the XX individuals presented higher rates of V[Combining Dot Above]O2 max, compared with the RR group (p < 0.05), and did not differ from the RX group. The main conclusion of this study is that soccer players of genotype ACTN3/RR are the fastest in short distances and present higher jump potential. ACTN3/XX individuals presented the highest aerobic capacity. These findings can be used in training load adjustment and can influence the development of tactical schemes in soccer matches.

ABSTRACT. Frequencies of κ-casein gene alleles were determined in 1316 animals from the Brazilian Bos indicus genetic groups (Sindhi cows, Gyr sires, Gyr cows, Guzerat sires, Guzerat cows, Nellore sires, and Gyr x Holstein crossbreds) by means of polymerase chain reaction-restriction fragment length polymorphism analysis using two independent restriction nucleases (Hinf I and HaeIII). The genotyping of κ-casein alleles (A and B) is of practical importance, since the B allele is found to correlate with commercially valuable parameters of cheese yielding efficiency. The frequencies of the B allele of κ-casein among breeds ranged from 0.01 to 0.30. The Sindhi breed had the highest frequency for the B allele (0.30), while the frequencies of this allele in other breeds ranged from 0.01 to 0.18. A wide variation in the B allele frequency among B. indicus breeds was found suggesting that molecular selection for animals carrying the B allele could impact breeding programs for dairy production.

The Guzerat breed is well adapted to the tropical conditions of Brazil. After 1940, the widespread use of Guzerat cattle for crossing has reduced its population size. In 1994, a selection program for milk production traits was initiated in some purebred herds. However, its success is compromised by genetic drift and an increased inbreeding coefficient (F). The objective of this study was to evaluate the genetic status of the Guzerat population under selection for milk production in order to monitor genetic variability. Genealogical data from 10,051 animals were used to estimate genetic parameters. The average F for all animals and for inbred animals in the pedigree was 0.009 and 0.025, respectively. Average relatedness was 0.011. The average generation interval was 7.48 years and the linear increase in F per generation was 0.0051. There was no trend of changes in the effective population size along generations, with the observation of an effective size of 98 in the last generation evaluated. The effective number of founders and ancestors was 318 and 101, respectively. Only 47 of 2106 ancestors contributed to 50% of the reference population. The bottleneck effect was 3.15. Average F and relatedness values are still low despite non-random mating. However, the reduced effective population size and effective number of ancestors indicate a risk of an increase in the inbreeding coefficient and genetic drift and consequent loss of variability.