Gene Loss

Publication Details

Identifier: JB_RR3V48

Curator: Inês Ferreira Amorim

DOI: 10.1007/s00239-021-10025-1

PMID: 34342686

Title:

Functional or Vestigial? The Genomics of the Pineal Gland in Xenarthra.

Abstract:

Vestigial organs are historical echoes of past phenotypes. Determining whether a specific organ constitutes a functional or vestigial structure can be a challenging task, given that distinct levels of atrophy may arise between and within lineages. The mammalian pineal gland, an endocrine organ involved in melatonin biorhythmicity, represents a classic example, often yielding contradicting anatomical observations. In Xenarthra (sloths, anteaters, and armadillos), a peculiar mammalian order, the presence of a distinct pineal organ was clearly observed in some species (i.e., Linnaeus's two-toed sloth), but undetected in other closely related species (i.e., brown-throated sloth). In the nine-banded armadillo, contradicting evidence supports either functional or vestigial scenarios. Thus, to untangle the physiological status of the pineal gland in Xenarthra, we used a genomic approach to investigate the evolution of the gene hub responsible for melatonin synthesis and signaling. We show that both synthesis and signaling compartments are eroded and were probably lost independently among Xenarthra orders. Additionally, by expanding our analysis to 157 mammal genomes, we offer a comprehensive view showing that species with very distinctive habitats and lifestyles have convergently evolved a similar phenotype: Cetacea, Pholidota, Dermoptera, Sirenia, and Xenarthra. Our findings suggest that the recurrent inactivation of melatonin genes correlates with pineal atrophy and endorses the use of genomic analyses to ascertain the physiological status of suspected vestigial structures.

Last update:

06-04-2025

Associated Glosses (98 results)

GlossID	Species	Symbol	Gene Loss Mechanism	Loss Type	Lineage Specific	Citation
GL_4IMDA6	Saimiri boliviensis	MTNR1B	LOF (frameshift, premature stop, ss)	Full	No	10.1007/s00239-021-10025-1
GL_4NULES	Cebus imitator	MTNR1B	LOF (frameshift, premature stop, ss)	Full	No	10.1007/s00239-021-10025-1
GL_58LXHX	Dipodomys ordii	ASMT	LOF (frameshift, premature stop, ss)	Full	No	10.1007/s00239-021-10025-1
GL_58YTWG	Manis javanica	ASMT	LOF (frameshift, premature stop, ss)	Full	Manis	10.1007/s00239-021-10025-1
GL_6AF5T8	Globicephala melas	MTNR1B	Exon(s) deletion	Full	No	10.1007/s00239-021-10025-1
GL_7PUPJH	Nannospalax galili	MTNR1B	LOF (frameshift, premature stop, ss)	Full	No	10.1007/s00239-021-10025-1
GL_7YDVUB	Rhinolophus ferrumequinum	MTNR1B	LOF (frameshift, premature stop, ss)	Polymorphic	No	10.1007/s00239-021-10025-1
GL_7YQV2T	Choloepus didactylus	AANAT	LOF (frameshift, premature stop, ss)	Full	Folivora	10.1007/s00239-021-10025-1
GL_86CBMT	Globicephala melas	AANAT	LOF (frameshift, premature stop, ss)	Full	Cetacea	10.1007/s00239-021-10025-1
GL_87VNDU	Galeopterus variegatus	ASMT	LOF (frameshift, premature stop, ss)	Full	No	10.1007/s00239-021-10025-1