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<p>&nbsp;<a href="http://www.biomedcentral.com/1471-2164/14/363">http://www.biomedcentral.com/1471-2164/14/363</a></p>

<p><section style="padding: 0px; margin: 0px; font-family: Verdana, Arial, Helvetica, sans-serif; font-size: 11.199999809265137px; line-height: 12.800000190734863px;">

<h3 style="padding: 0px 0px 7px; margin: 1.5em 0px 0.5em; border-width: 0px 0px 1px; border-bottom-style: solid; border-bottom-color: rgb(211, 209, 209); outline: 0px; font-style: inherit; font-size: 1.4em; font-family: inherit; vertical-align: baseline; color: rgb(38, 115, 186); line-height: 1.2em; clear: both;">

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<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;">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. 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.</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;">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>. 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.</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;">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.</p>

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