The genome sequencing of an albino Western lowland gorilla reveals inbreeding in the wild

BACKGROUND: The only known albino gorilla, named Snowflake, was a male wild born individual from Equatorial Guinea who lived at the Barcelona Zoo for almost 40 years. He was diagnosed with non-syndromic oculocutaneous albinism, i.e. white hair, light eyes, pink skin, photophobia and reduced visual acuity. Despite previous efforts to explain the genetic cause, this is still unknown. Here, we study the genetic cause of his albinism and making use of whole genome sequencing data we find a higher inbreeding coefficient compared to other gorillas.RESULTS: We successfully identified the causal genetic variant for Snowflake's albinism, a non-synonymous single nucleotide variant located in a transmembrane region of SLC45A2. This transporter is known to be involved in oculocutaneous albinism type 4 (OCA4) in humans. We provide experimental evidence that shows that this amino acid replacement alters the membrane spanning capability of this transmembrane region. Finally, we provide a comprehensive study of genome-wide patterns of autozygogosity revealing that Snowflake's parents were related, being this the first report of inbreeding in a wild born Western lowland gorilla.CONCLUSIONS: In this study we demonstrate how the use of whole genome sequencing can be extended to link genotype and phenotype in non-model organisms and it can be a powerful tool in conservation genetics (e.g., inbreeding and genetic diversity) with the expected decrease in sequencing cost.

Professori Paavo Kastari 28/10 1975

Kirje 28.10.1975

Ministeri Johannes Virolainen 6/1 1975

Kirje 6.1.1975

Estudio del ciclo reproductivo de hembras de "Marucha" Callianassa garthi retamal, 1975 (Crustacea: Decapoda: Callaniassidae) en la zona de Playa Arica

Describe los principales aspectos de la biología reproductiva de la “marucha”, Callianassa garthi Retamal, 1975, crustáceo decápodo que habita la zona mesolitoral de las playas arenosas de la Costa Peruana. Así mismo, se han definido cinco estadíos de madurez sexual: en madurez, madurez inicial, madurez avanzada, evacuación inicial y evacuación final. Se ha determinado que esta especie tiene una reproducción del tipo grupo-sincrónico, con una maduración gonadal prolongada y un solo periodo de desove al año, el cual se inicia en mayo y finaliza en noviembre con una intensidad máxima entre julio y agosto. Se ha observado que existe una relación inversa entre la actividad reproductiva y la temperatura superficial del mar.