Variation in the Tyrosinase Gene Associated with a White Humpback Whale (Megaptera novaeangliae)
Tyrosinase-negative oculocutaneous albinism (OCA1A) is characterized by lifelong white hair and skin, a phenotype that has been described in most mammalian species worldwide. Tyrosinase is the key enzyme in melanin biosynthesis, and mutations in the tyrosinase gene result in OCA1A. We examined seque...
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fthighwire:oai:open-archive.highwire.org:jhered:esr108v1 2023-05-15T16:35:48+02:00 Variation in the Tyrosinase Gene Associated with a White Humpback Whale (Megaptera novaeangliae) Polanowski, Andrea M. Robinson-Laverick, Sarah M. Paton, David Jarman, Simon N. 2011-12-02 10:22:00.0 text/html http://jhered.oxfordjournals.org/cgi/content/short/esr108v1 https://doi.org/10.1093/jhered/esr108 en eng Oxford University Press http://jhered.oxfordjournals.org/cgi/content/short/esr108v1 http://dx.doi.org/10.1093/jhered/esr108 Copyright (C) 2011, American Genetic Association Brief Communication TEXT 2011 fthighwire https://doi.org/10.1093/jhered/esr108 2013-05-28T10:22:14Z Tyrosinase-negative oculocutaneous albinism (OCA1A) is characterized by lifelong white hair and skin, a phenotype that has been described in most mammalian species worldwide. Tyrosinase is the key enzyme in melanin biosynthesis, and mutations in the tyrosinase gene result in OCA1A. We examined sequence variation at exon 1 of the tyrosinase gene in 66 humpback whale samples collected from the east coast of Australia, including an anomalously white humpback whale known as “Migaloo.” We identified 3 novel variants, including a cytosine deletion that results in a premature stop codon in exon 1. The deletion truncates the tyrosinase protein including the putative catalytic domains that are essential for tyrosinase enzymatic activity. Migaloo was homozygous for this deletion, suggesting that the albino phenotype is a consequence of inactive tyrosinase caused by the frameshift in the tyrosinase gene. Text Humpback Whale Megaptera novaeangliae HighWire Press (Stanford University) Journal of Heredity 103 1 130 133 |
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HighWire Press (Stanford University) |
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Brief Communication |
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Brief Communication Polanowski, Andrea M. Robinson-Laverick, Sarah M. Paton, David Jarman, Simon N. Variation in the Tyrosinase Gene Associated with a White Humpback Whale (Megaptera novaeangliae) |
topic_facet |
Brief Communication |
description |
Tyrosinase-negative oculocutaneous albinism (OCA1A) is characterized by lifelong white hair and skin, a phenotype that has been described in most mammalian species worldwide. Tyrosinase is the key enzyme in melanin biosynthesis, and mutations in the tyrosinase gene result in OCA1A. We examined sequence variation at exon 1 of the tyrosinase gene in 66 humpback whale samples collected from the east coast of Australia, including an anomalously white humpback whale known as “Migaloo.” We identified 3 novel variants, including a cytosine deletion that results in a premature stop codon in exon 1. The deletion truncates the tyrosinase protein including the putative catalytic domains that are essential for tyrosinase enzymatic activity. Migaloo was homozygous for this deletion, suggesting that the albino phenotype is a consequence of inactive tyrosinase caused by the frameshift in the tyrosinase gene. |
format |
Text |
author |
Polanowski, Andrea M. Robinson-Laverick, Sarah M. Paton, David Jarman, Simon N. |
author_facet |
Polanowski, Andrea M. Robinson-Laverick, Sarah M. Paton, David Jarman, Simon N. |
author_sort |
Polanowski, Andrea M. |
title |
Variation in the Tyrosinase Gene Associated with a White Humpback Whale (Megaptera novaeangliae) |
title_short |
Variation in the Tyrosinase Gene Associated with a White Humpback Whale (Megaptera novaeangliae) |
title_full |
Variation in the Tyrosinase Gene Associated with a White Humpback Whale (Megaptera novaeangliae) |
title_fullStr |
Variation in the Tyrosinase Gene Associated with a White Humpback Whale (Megaptera novaeangliae) |
title_full_unstemmed |
Variation in the Tyrosinase Gene Associated with a White Humpback Whale (Megaptera novaeangliae) |
title_sort |
variation in the tyrosinase gene associated with a white humpback whale (megaptera novaeangliae) |
publisher |
Oxford University Press |
publishDate |
2011 |
url |
http://jhered.oxfordjournals.org/cgi/content/short/esr108v1 https://doi.org/10.1093/jhered/esr108 |
genre |
Humpback Whale Megaptera novaeangliae |
genre_facet |
Humpback Whale Megaptera novaeangliae |
op_relation |
http://jhered.oxfordjournals.org/cgi/content/short/esr108v1 http://dx.doi.org/10.1093/jhered/esr108 |
op_rights |
Copyright (C) 2011, American Genetic Association |
op_doi |
https://doi.org/10.1093/jhered/esr108 |
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Journal of Heredity |
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103 |
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1 |
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130 |
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133 |
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1766026093718929408 |