Gene turnover in the avian globin gene families and evolutionary changes in hemoglobin isoform expression.
Gene turnover in the avian globin gene families and evolutionary changes in hemoglobin isoform expression.
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DOI：
10.1093/molbev/msu341
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发表时间：
2015-04
影响因子：
10.7
通讯作者：
Storz JF
中科院分区：
文献类型：
--
作者：
Opazo JC;Hoffmann FG;Natarajan C;Witt CC;Berenbrink M;Storz JF
鸟类染色体进化过程中的明显停滞表明，在多基因家族中，鸟类可能经历了相对较低的基因获得和丢失率。为了研究这种可能性并探索基因拷贝数变异的表型后果，我们研究了编码血红蛋白（Hb）α和β型亚基的基因家族的进化变化，血红蛋白是负责血液O2转运的四聚体α2β2蛋白。对52种鸟类的比较基因组分析显示，在大约100 My的鸟类进化过程中，α-和β-珠蛋白基因家族的大小和成员组成保持了显着的恒定。基因含量的大多数种间变异可归因于α D-珠蛋白基因的多次独立失活，该基因编码在胚胎和定形红细胞中表达的功能不同的Hb同种型（HbD）的α链亚基。由于HbD和主要成人表达的Hb同种型HbA（包含α A-珠蛋白基因的产物）之间O2结合特性的一致差异，α D-珠蛋白的反复丢失导致血液O2亲和力的物种间差异。对122种鸟类红细胞中HbA/HbD表达水平的分析显示，不同谱系之间存在高度的变异性和较强的系统发育信号。与哺乳动物中的同源基因簇相比，鸟类珠蛋白基因簇中谱系特异性基因重复的低留存率表明，鸟类中Hb合成的发育调控可能更高度保守，在不同的类群中，直链淀粉基因具有相似的阶段特异性表达谱和相似的功能特性。
The apparent stasis in the evolution of avian chromosomes suggests that birds may have experienced relatively low rates of gene gain and loss in multigene families. To investigate this possibility and to explore the phenotypic consequences of variation in gene copy number, we examined evolutionary changes in the families of genes that encode the α- and β-type subunits of hemoglobin (Hb), the tetrameric α2β2 protein responsible for blood-O2 transport. A comparative genomic analysis of 52 bird species revealed that the size and membership composition of the α- and β-globin gene families have remained remarkably constant during approximately 100 My of avian evolution. Most interspecific variation in gene content is attributable to multiple independent inactivations of the αD-globin gene, which encodes the α-chain subunit of a functionally distinct Hb isoform (HbD) that is expressed in both embryonic and definitive erythrocytes. Due to consistent differences in O2-binding properties between HbD and the major adult-expressed Hb isoform, HbA (which incorporates products of the αA-globin gene), recurrent losses of αD-globin contribute to among-species variation in blood-O2 affinity. Analysis of HbA/HbD expression levels in the red blood cells of 122 bird species revealed high variability among lineages and strong phylogenetic signal. In comparison with the homologous gene clusters in mammals, the low retention rate for lineage-specific gene duplicates in the avian globin gene clusters suggests that the developmental regulation of Hb synthesis in birds may be more highly conserved, with orthologous genes having similar stage-specific expression profiles and similar functional properties in disparate taxa.
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DOI：
10.1093/icb/20.1.199
发表时间：
1980-01-01
期刊：
AMERICAN ZOOLOGIST
影响因子：
--
作者：
BUNN, HF
通讯作者：
BUNN, HF
影响因子：
4.8
作者：
Fronticelli, C;Sanna, MT;Brinigar, WS
通讯作者：
Brinigar, WS
影响因子：
4.8
作者：
Blank, Miriam;Kiger, Laurent;Burmester, Thorsten
通讯作者：
Burmester, Thorsten
影响因子：
4.1
作者：
Cooper, SJB;Wheeler, D;Hope, RM
通讯作者：
Hope, RM
影响因子：
2.5
作者：
Alev, Cantas;McIntyre, Brendan A. S.;Sheng, Guojun
通讯作者：
Sheng, Guojun