Range-Limited Heaps' Law for Functional DNA Words in the Human Genome

Wentian Li, Yannis Almirantis, Astero Provata
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Abstract

Heaps' or Herdan's law is a linguistic law describing the relationship between the vocabulary/dictionary size (type) and word counts (token) to be a power-law function. Its existence in genomes with certain definition of DNA words is unclear partly because the dictionary size in genome could be much smaller than that in a human language. We define a DNA word in a genome as a DNA coding region that codes for a protein domain. Using human chromosomes and chromosome arms as individual samples, we establish the existence of Heaps' law in the human genome within limited range. Our definition of words in a genomic or proteomic context is different from that in large language models for DNA or protein sequences where words are usually short. Although an approximate power-law distribution of protein domain sizes due to gene duplication and the related Zipf's law is well known, their translation to the Heaps' law in DNA words is not automatic. Several other animal genomes are shown herein also to exhibit range-limited Heaps' law with our definition of DNA words, though with various exponents, partially depending on their level of complexity. Investigation of Heaps' law and its exponent value could provide an alternative narrative of reusage and redundancy of protein domains as well as creation of new protein domains from a linguistic perspective.
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人类基因组中功能 DNA 词的范围限制希普斯定律
希普斯定律(Heaps' or Herdan's law)是一种语言学定律,它将词汇量/字典大小(类型)与字数(标记)之间的关系描述为幂律函数。该定律在具有特定 DNA 词定义的基因组中是否存在尚不清楚,部分原因是基因组中的词典规模可能比人类语言中的词典规模小得多。我们将基因组中的 DNA 词定义为编码蛋白质域的 DNA 编码区。我们以人类染色体和染色体臂为单个样本,在有限的范围内证实了人类基因组中存在希普斯定律。我们在基因组学或蛋白质组学背景下对单词的定义不同于 DNA 或蛋白质序列的大型语言模型,后者的单词通常很短。虽然由于基因复制导致的蛋白质结构域大小的近似幂律分布和与之相关的齐普夫定律已广为人知,但它们在 DNA 单词中并不能自动转化为希普斯定律。研究 Heaps'定律及其指数值可以从语言学的角度为蛋白质结构域的重复使用和冗余以及新蛋白质结构域的创造提供另一种叙述方式。
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