Snow Leopard Mutations

[Rode Strawther]

ImogeneCancellare, a Ph.D. student at the University of Delaware and Panthera collaborator, studies snow leopard genetics. Learn more about her trip to Kyrgyzstan in 2019 to collect snow leopard scat samples and the exciting findings of her study. We hope you enjoy this World Snow Leopard Day blog.

In August 2019, I worked with Panthera and Ilbirs Foundation to conduct non-invasive scat collection surveys in southern Kyrgyzstan. We set out, hoping to collect samples in areas not yet formally surveyed for snow leopards. On our very first day in the field, we had luck on our side, and discovered a snow leopard scat! This luck stayed with us throughout the trip, and with the help of local communities, we collected more than 60 scat samples. These samples, along with several other hundred others from across the ten snow leopard range countries, were then processed at the National Genomics Center for Fish and Wildlife Conservation in Missoula, Montana.

Genetic research allows scientists to discover information about snow leopard populations at the most detailed level. We use this tool to help us understand the diversity of specific snow leopard populations as well as identify individual snow leopards and potentially their relationship to each other. With this information, we can better understand breeding patterns and the overall health of a snow leopard population within a particular habitat area.

If a species has a large genetic diversity, it means that individual populations are healthier and better able to show resilience in case of disease or illness. If the diversity is too low, on the other hand, the species tends to be more vulnerable.

In 2009, the Snow Leopard Trust funded the research required to crack the code of snow leopard DNA and answer the question of genetic health and diversity. Dr. Lisette Waits conducted the DNA study at the University of Idaho, and the resulting technique is now a valuable new tool that helps us determine snow leopard population sizes and their overall genetic health.

Animal scat and hairs are collected from the field, and DNA is extracted to determine which type of animal produced the sample. If it was a snow leopard, we take the next step and analyze the specific genetic profile of the individual. This can take time, but the information we collect is invaluable in understanding both the individual cat, and the population as a whole.

New research published in the Journal of Heredity suggests that there are three subspecies of snow leopard, which researchers say could create new conservation opportunities for the elusive species that inhabits remote, high-altitude habitat across Central and South Asia.

Conservation geneticists apply genetic theory and techniques to preserve endangered species as dynamic entities, capable of coping with environmental change and thus minimizing their risk of extinction. Snow leopards are an umbrella species of High Asia, and a keystone for maintaining biodiversity within this fragile ecosystem. A clear understanding of patterns of snow leopard genetic diversity is critical for guiding conservation initiatives that will ensure their long-term persistence. Yet, a comprehensive analysis of snow leopard genetic variation is lacking. The number of published snow leopard genetic studies is far fewer than for other imperiled big cats. Here, I review the limited genetic work to date on snow leopards and the significant knowledge gaps to be filled. An emphasis must be placed on describing and understanding population genetic dynamics within and among meta-populations to provide information about the interactions between landscapes and the micro-evolutionary processes of gene flow and genetic drift. These results can be used to evaluate the levels and dynamics of genetic and demographic connectivity. A lack of connectivity, particularly in the low density, small populations that typify snow leopards, can lead to multiple demographic and genetic consequences, including inbreeding depression, loss of adaptive potential, and heightened susceptibility to demographic and environmental stochasticity. New efforts in conservation research on snow leopards should focus on this line of inquiry, and the opportunities and challenges for that are outlined and discussed to encourage the required, and considerable, transboundary partnerships and collaborations needed to be successful.

I would like to thank the many colleagues and conservationists who over the years have patiently discussed with me their thoughts on snow leopards, research, and the value of genetics. I also thank J. Weckworth and two anonymous reviewers for useful comments and suggestions on earlier drafts of this manuscript.

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Tigers and their close relatives (Panthera) are some of the world's most endangered species. Here we report the de novo assembly of an Amur tiger whole-genome sequence as well as the genomic sequences of a white Bengal tiger, African lion, white African lion and snow leopard. Through comparative genetic analyses of these genomes, we find genetic signatures that may reflect molecular adaptations consistent with the big cats' hypercarnivorous diet and muscle strength. We report a snow leopard-specific genetic determinant in EGLN1 (Met39>Lys39), which is likely to be associated with adaptation to high altitude. We also detect a TYR260G>A mutation likely responsible for the white lion coat colour. Tiger and cat genomes show similar repeat composition and an appreciably conserved synteny. Genomic data from the five big cats provide an invaluable resource for resolving easily identifiable phenotypes evident in very close, but distinct, species.

Mutants are natural variations which occur due to spontaneous genetic changes or the expression of recessive (hidden) genes. Recessive genes show up when there is too much inbreeding, either in isolated wild populations or in captive populations. Albinism (pure white), chinchilla (white with pale markings) and melanism (black) are the commonest mutations. Erythristic (red), leucistic (partial albinism/cream) and maltesing (blue) are also reported in big cats. Sometimes the markings are aberrant e.g. too sparse or too heavy (abundism), giving the appearance of a pale or dark individual. White, black, red, blue or cream mutations are similar to those found in domestic cats. Sometimes the pattern is different from normal. As well as anomalous colours, there are abnormally large or small individuals, longhaired individuals, short-tailed or even tail-less individuals. All of these occur in domestic cats so why are they less common in big cats? Wild cats displaying these traits may be less likely to survive to pass on the traits. In captivity, humans control which traits are bred, hence the multitude of domestic cat colours and types. In the wild, nature selects against any trait which does not enhance the animal's survival chances.

In the past, the obvious reaction to any unusual big cat was to shoot it for the trophy room. As a result, many interesting mutations may have been wiped out before the genes were passed on. Some colour mutations which would disadvantage a wild big cat are bred in captivity and are not viable in the wild. It is questionable whether these mutants should be perpetuated for the sake of curiosity or aesthetics alone.

Leopards are most commonly buff/tawny with inky black spots arranged in rosettes. Melanistic leopards are relatively common and are bred in zoos and as exotic pets (black panthers). Black leopards are reported from moist densely-forested areas in south-western China, Burma, Assam and Nepal; from Travancore and other parts of southern India and are said to be common in Java and the southern part of the Malay peninsula where they may be more numerous than spotted leopards. They are less common in tropical Africa, but have been reported from Ethiopia (formerly Abyssinia), the forests of Mount Kenya and the Aberdares. One was recorded by Peter Turnbull-Kemp in the equatorial forest of Cameroon.

A melanistic leopard cub has been observed in Ol Pejeta Conservancy in Kenya. Although black leopards are common in India, where the colour may be advantageous in forested conditions, confirmed sightings in Kenya are so rare that they were not scientifically documented or photographed/ filmed for over 100 years, although there had been reports of sightings in and around Kenya for decades.

According to the Illustrated Natural History by the Rev JG Wood (1853, 1874): There are some [Indian] Leopards whose fur is so very dark as to earn for them the name of Black Leopard. This is probably only a variety, and not a distinct species. Although at first sight this Leopard appears to be almost uniformly black, yet on a closer inspection it is seen to be furnished with the usual pardine spots, which in certain lights are very evident. There have been often exhibited sundry Leopards of an exceedingly dark fur, and yet partaking largely of the distinct spottings of the ordinary Leopard. These were a mixed breed between the Black Leopard and the Leopard of Africa. The black variety of this animal is found in Java, and has by some authors been considered as a separate species under the title of Felis (Leopardus) melas, the latter word being a Greek term, signifying black.

At The Zoo. The Cat Family In Its Many And Curious Varieties. St Louis Globe Democrat, 22nd August 1885 (From the Philadelphia Ledger.)

There are three leopards at the "Zoo," a large Indian male and two African females. The visitor to the garden is not mistaken when he forms the opinion from the appearance of those animals that they are even more ferocious and intractable than the lion or tiger. The black variety of leopard is found principally in Java. Under a strong light spots may be detected in this animal corresponding with those on other leopards. The black leopard is not a distinct species, as it and leopards of the ordinary appearance may be born of the same dam and have the same sire.

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