Segmental duplication and deletion were implicated for a region containing the human immunoglobulin heavy chain variable (IGHV) gene segments, 1.9III/hv3005 (possible allelic variants of IGHV3-30) and hv3019b9 (a possible allelic variant of IGHV3-33).
Other genes and pathways have been implicated in human heterotaxy, for example intragenic mutations have been identified in CFC [51] and ACVR2B [52], which are both components of a transforming growth factor-beta signaling system.
Many transcription factors (TFs) have been implicated in human disorders, for example HNF4alpha in diabetes [15], [16], USF1 in familial combined hyperlipidemia [17] and AP2alpha in cleft palate [18].
Two lineages of this species (i.e. LI and LII) predominantly cause human sporadic and epidemic infections, whereas the other (i.e. LIII) has never been implicated in human disease outbreaks for unclear yet intriguing reasons.
Non-coding RNAs (ncRNAs) are a class of molecular species that, for example, play regulatory roles, have been implicated in human diseases, and are essential for stem cells [1], [2], [3], [4], [5].
Molecular mimicry has been suggested as early pathogenetic mechanism for SSc and several microbes have been implicated, including human cytomegalovirus (hCMV), EBV, endogenous retroviruses and H. pylori.
Activation of telomerase, compensating for the loss of telomeres, has been implicated in human cell immortalisation and carcinogenesis.
For example, up-regulation of Col V has been implicated in human breast cancer.
Enhanced expression of ENO1 has been implicated in human tumorigenesis and also used as a diagnostic marker for human lung cancer [ 19, 23, 28- 31].
A number of known SNPs and indels have been implicated in human health and disease and are thought to be significant for understanding human ancestry and evolution.
