<h4 p style="padding: 4px 0px; margin: 0px0px 1em; border: none0px; outline: 0px; font-style: inherit; font-size: 1.3em; font-family: inherit; vertical-align: baseline; coloroverflow: rgb(78, 78, 78)visible; clear: both; line-height: 117.2em600000381469727px;">Background</h4><p span style="padding: 0px; margin: 0px 0px 1em; border: 0px; outline: 0px; font-stylesize: inherit; font-family: inherit; vertical-align: baseline; overflow: visible; clear: both; line-height: 17.600000381469727pxmedium;">The only known albino gorilla, named&nbsp;<em style="padding: 0px; margin: 0px; border: 0px; outline: 0px; font-family: inherit; vertical-align: baseline;">Snowflake</em>, was a male wild born individual from Equatorial Guinea who lived at the Barcelona Zoo for almost 40 years. </span></p><p style="padding: 0px; margin: 0px 0px 1em; border: 0px; outline: 0px; font-style: inherit; font-family: inherit; vertical-align: baseline; overflow: visible; clear: both; line-height: 17.600000381469727px;"><span style="font-size: medium;">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. </span></p><p style="padding: 0px; margin: 0px 0px 1em; border: 0px; outline: 0px; font-style: inherit; font-family: inherit; vertical-align: baseline; overflow: visible; clear: both; line-height: 17.600000381469727px;"><span style="font-size: medium;">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.</span></p><h4 p style="padding: 4px 0px; margin: 0px0px 1em; border: none0px; outline: 0px; font-style: inherit; font-size: 1.3em; font-family: inherit; vertical-align: baseline; coloroverflow: rgb(78, 78, 78)visible; clear: both; line-height: 117.2em600000381469727px;">&nbsp;</p><p><span style="font-size: large;">Results</h4span></p><p style="padding: 0px; margin: 0px 0px 1em; border: 0px; outline: 0px; font-style: inherit; font-family: inherit; vertical-align: baseline; overflow: visible; clear: both; line-height: 17.600000381469727px;"><span style="font-size: medium;">We successfully identified the causal genetic variant for&nbsp;<em style="padding: 0px; margin: 0px; border: 0px; outline: 0px; font-family: inherit; vertical-align: baseline;">Snowflake&rsquo;s</em>&nbsp;albinism, a non-synonymous single nucleotide variant located in a transmembrane region of&nbsp;<em style="padding: 0px; margin: 0px; border: 0px; outline: 0px; font-family: inherit; vertical-align: baseline;">SLC45A2</em>. </span></p><p style="padding: 0px; margin: 0px 0px 1em; border: 0px; outline: 0px; font-style: inherit; font-family: inherit; vertical-align: baseline; overflow: visible; clear: both; line-height: 17.600000381469727px;"><span style="font-size: medium;">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&nbsp;<em style="padding: 0px; margin: 0px; border: 0px; outline: 0px; font-family: inherit; vertical-align: baseline;">Snowflake</em>&rsquo;s parents were related, being this the first report of inbreeding in a wild born Western lowland gorilla.</span></p><h4 p style="padding: 4px 0px; margin: 0px0px 1em; border: none0px; outline: 0px; font-style: inherit; font-size: 1.3em; font-family: inherit; vertical-align: baseline; coloroverflow: rgb(78, 78, 78)visible; clear: both; line-height: 117.2em600000381469727px;">&nbsp;</p><p><span style="font-size: large;">Conclusions</h4span></p><p style="padding: 0px; margin: 0px 0px 1em; border: 0px; outline: 0px; font-style: inherit; font-family: inherit; vertical-align: baseline; overflow: visible; clear: both; line-height: 17.600000381469727px;"><span style="font-size: medium;">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.</span></p>

<p>&nbsp;</sectionp><p>&nbsp;&nbsp;</p><p><span id="keywords" style="padding: 0px; margin: 0px; border: 0px; outline: 0px; font-size: 11.199999809265137px; font-family: Verdana, Arial, Helvetica, sans-serif; vertical-align: baseline; line-height: 12.800000190734863px;"> </span></p><h5 class="inline" p><span style="padding: 4px 0px 0px; margin: 0px 0px 0.3em; border: none; outline: 0px; font-style: inherit; font-size: 1.1em; font-family: inherit; vertical-align: baseline; color: rgb(78, 78, 78); line-height: 1.4em; display: inline !importantmedium;">Keywords</span>:&nbsp;</h5p><p><span style="font-size: medium;">Gorilla; [[Albinism]]; Inbreeding; Genome; Conservation</span></p><p>&nbsp;</p>