苏门答腊猩猩（Pongo abelii）尿黑酸尿症的生化和分子确认。

Biochemical and molecular confirmation of alkaptonuria in a Sumatran orangutan (Pongo abelii).

机构信息

Indianapolis Zoo, Indianapolis, IN 46222, USA.

Indiana University School of Medicine, Department of Medical and Molecular Genetics, Indianapolis, IN 46202, USA.

出版信息

Mol Genet Metab. 2023 Jul;139(3):107628. doi: 10.1016/j.ymgme.2023.107628. Epub 2023 Jun 15.

DOI:10.1016/j.ymgme.2023.107628

PMID:37354891

Abstract

A 6-yr-old female orangutan presented with a history of dark urine that turned brown upon standing since birth. Repeated routine urinalysis and urine culture were unremarkable. Urine organic acid analysis showed elevation in homogentisic acid consistent with alkaptonuria. Sequence analysis identified a homozygous missense variant, c.1081G>A (p.Gly361Arg), of the homogentisate 1,2-dioxygenase (HGD) gene. Familial studies, molecular modeling, and comparison to human variant databases support this variant as the underlying cause of alkaptonuria in this orangutan. This is the first report of molecular confirmation of alkaptonuria in a nonhuman primate.

摘要

一只 6 岁雌性猩猩，自出生以来尿液一直呈深色，静置后变为棕色。反复进行常规尿液分析和尿液培养均未见异常。尿液有机酸分析显示，同型尿黑酸升高，符合尿黑酸尿症。序列分析发现，HGD 基因的 c.1081G>A（p.Gly361Arg）纯合错义变异，为同型尿黑酸 1,2-双加氧酶基因。家系研究、分子建模以及与人类变异数据库的比较支持该变异是该猩猩尿黑酸尿症的致病原因。这是首例在非人类灵长类动物中分子确诊尿黑酸尿症的报告。