The Proceedings of the Eighth International Conference on Creationism (2018)

Tomkins, J.P. 2018. Combinatorial genomic data refute the human chromosome 2 evolutionary fusion and build a model of functional design for interstitial telomeric repeats. In Proceedings of the Eighth International Conference on Creationism , ed. J.H. Whitmore, pp. 222–228. Pittsburgh, Pennsylvania: Creation Science Fellowship. COMBINATORIAL GENOMIC DATA REFUTE THE HUMAN CHROMOSOME 2 EVOLUTIONARY FUSION AND BUILD AMODEL OF FUNCTIONAL DESIGN FOR INTERSTITIAL TELOMERIC REPEATS Jeffrey P. Tomkins , Institute for Creation Research, 1806 Royal Ln Dallas, TX 75010 jtomkins@icr.org ABSTRACT Evolutionists allege that human chromosome 2 is the product of an ancient fusion event in an ancient hominid ancestor descended from apes. However, both the alleged site of fusion and the so-called cryptic centromere of human chromosome 2 are situated inside active genes negating the idea of fusion. Not only are the alleged genomic fossils of fusion representative of functional intragenic sequence, but they are also both highly degenerate versions of their supposed evolutionary beginnings, suggesting something other than an evolutionary origin. Given that these data strongly refute an evolutionary fusion scenario, it behooves creationists to propose an alternative model for the functional nature of telomere-like sequences scattered around the internal regions of human chromosomes. Towards this end, new data based on ENOCODE project data sets is provided that further elucidates the regulatory role of interstitial telomeric repeat sequences genome-wide, particularly with respect to their transcription factor binding domain properties and transcription start site associations. KEY WORDS Chromosome 2 fusion, DDX11L2 gene, ANKRD30BL transmembrane protein, human evolution, human-chimpanzee, cryptic centromere, interstitial telomere sequence, transcription factor binding, transcription start site Copyright 2018 Creation Science Fellowship, Inc., Pittsburgh, Pennsylvania, USA www.creationicc.org 222 INTRODUCTION One of the most often used arguments explaining human evolution from a chimpanzee-like ancestor is the alleged fusion of ape chromosomes 2A and 2B in a telomere-to-telomere fashion, resulting in human chromosome 2 (Yunis and Prakash 1982; Ijdo et al. 1991). This scenario attempts to account for the discrepancy in chromosome numbers between humans and great apes. Humans have a diploid chromosome complement of 46 while chimpanzees, orangutans, and gorillas have 48. See Figure 1 for a graphical depiction of the purported fusion event. The idea of human chromosome 2 fusion is strongly promoted despite the fact that all known chromosome fusion events in extant mammals involve satellite DNA and breaks at or near centromeres (Chaves et al. 2003; Tsipouri et al. 2008; Adega et al. 2009). All genetic data in living mammals up to this point shows that telomere-satelliteDNA or satelliteDNA-satelliteDNA are the hallmark signatures of naturally occurring but rare chromosomal fusion sites in nature, not telomere-telomere fusions (Chaves et al. 2003; Tsipouri et al. 2008; Adega et al. 2009). Some evolutionists may counter this data with the argument that telomere-telomere fusions have been observed in the rearranged aberrant genomes of human cancer cells. However, these genomic aberrations are not indicative of normal healthy cells, but instead are the products of the failure of mechanisms maintaining genomic integrity in cells - leading to disease and death of the organism (Tanaka et al. 2012; Tanaka et al. 2014; Tu et al. 2015). An end-to-end fusion of chromosomes as proposed by evolutionists for humans would give a head-to-head telomeric repeat signature of at least 10,000 bases in length due to the fact that human telomeres range in size between 5,000 and 15,000 bases in length (Tomkins and Bergman 2011a, b). However, the alleged the fusion site is exceptionally small in size and only 798 bases in length. Another significant aspect questioning the validity of a telomere-telomere fusion signature is the fact that in evolutionary terms, it is very degenerate given the alleged 3 to 6 million years of divergence from a human-chimpanzee common ancestor (Fan et al. 2002). Given that no major rearrangements within the fusion site appear to have occurred combined with the lack of transposable element insertions, the fusion site should be about 98.5% similar to pristine fused repeats based on standard evolutionary predictions. However, the 798-base fusion signature is only 70% identical to the sequence of a hypothetical pristine fusion of the same size based on a pair- wise global alignment in the Geneious software package. Some evolutionists may also attempt to claim that the fusion site and the alleged cryptic centromere are positioned where one might expect them to be if a fusion occurred. However, an analysis of the assembled chimpanzee DNA sequences for these chromosomes (panTro4) reveals that not only are they assembled using human chromosome 2 as a scaffold, but they contain many gaps and are full of large numbers of meaningless N’s (Tomkins 2017). The letter N is substituted for nucleotides in the areas of DNA that contain unknown sequence instead of the letters A, T, G, or C and the number of N’s inserted does not correspond to actual gap sizes, which are unknown. At the time of this research, the new panTro5 version of the chimpanzee genome was released and is currently in Figure 1. Depiction of the evolutionary model in which chimpanzee- like chromosomes 2A and 2B allegedly fused end-to-end to form human chromosome 2. Chromosomes are drawn to scale according to cytogenetic images in Yunis and Prakash (1982).