Publications

Accelerated evolution in the human lineage led to gain and loss of transcriptional enhancers in the RBFOX1 locus.
Berasain L, Beati P, Trigila AP, Rubinstein M, Franchini LF
Sci Adv. 2024 Jun 28;10(26):eadl1049. doi: 10.1126/sciadv.adl1049.

A mammalian tripartite enhancer cluster controls hypothalamic Pomc expression, food intake, and body weight.
Rojo D, Hael CE, Soria A, de Souza FSJ, Low MJ, Franchini LF, Rubinstein M
Proc Natl Acad Sci U S A. 2024 Apr 30;121(18):e2322692121. doi: 10.1073/pnas.2322692121.

A maternal dorsoventral prepattern revealed by an asymmetric distribution of ventralizing molecules before fertilization in Xenopus laevis.
Castro Colabianchi AM, González Pérez NG, Franchini LF, López SL
Front Cell Dev Biol. 2024 Mar 20:12:1365705. doi: 10.3389/fcell.2024.1365705.

Accelerated Evolution Analysis Uncovers PKNOX2 as a Key Transcription Factor in the Mammalian Cochlea.
Trigila AP, Castagna AC, Berasain L, Montini D, Rubinstein M, Gomez-Casati ME, Franchini LF
Mol Biol Evol. 2023 Jul 5;40(7):msad128. doi: 10.1093/molbev/msad128.

Hearing loss genes reveal patterns of adaptive evolution at the coding and non-coding levels in mammals.
Trigila AP, Pisciottano F, Franchini LF
BMC Biol. 2021 Nov 16;19(1):244. doi: 10.1186/s12915-021-01170-6

Segregation of brain and organizer precursors is differentially regulated by Nodal signaling at blastula stage.
Castro Colabianchi AM, Tavella MB, Boyadjián López LE, Rubinstein M, Franchini LF, López SL.
Biol Open. 2021 Feb 25;10(2):bio051797. doi: 10.1242/bio.051797. PMID: 33563608

Genetic Mechanisms Underlying Cortical Evolution in Mammals.
Franchini LF.
Front Cell Dev Biol. 2021 Feb 15;9:591017. doi: 10.3389/fcell.2021.591017. eCollection 2021. PMID: 33659245

Distinct evolutionary trajectories of neuronal and hair cell nicotinic acetylcholine receptors.
Marcovich I, Moglie MJ, Freixas AEC, Trigila AP, Franchini LF, Plazas PV, Lipovsek M, Elgoyhen AB.
Mol Biol Evol. 2019 Dec 10. pii: msz290. doi: 10.1093/molbev/msz290.

Inner Ear Genes Underwent Positive Selection and Adaptation in the Mammalian Lineage.
Pisciottano F, Cinalli AR, Stopiello JM, Castagna VC, Elgoyhen AB, Rubinstein M, Gómez-Casati ME, Franchini LF.
Mol Biol Evol. 2019 Aug 1;36(8):1653-1670. doi: 10.1093/molbev/msz077.
PMID: 31137036

Transcriptional Enhancers in the FOXP2 Locus Underwent Accelerated Evolution in the Human Lineage
Caporale AL, Gonda CM, Franchini LF.
Mol Biol Evol. 2019 Jul 29. pii: msz173. doi: 10.1093/molbev/msz173.
PMID: 31359064

Notch1 is asymmetrically distributed from the beginning of embryogenesis and controls the ventral center.
Castro Colabianchi AM, Revinski DR, Encinas PI, Baez MV, Monti RJ, Rodríguez Abinal M, Kodjabachian L, Franchini LF, López SL.
Development. 2018 Jul 17;145(14).

Human evolution: the non-coding revolution.
Franchini LF, Pollard KS
BMC Biol. 2017 Oct 2;15(1):89. doi: 10.1186/s12915-017-0428-9

Spectrin βV adaptive mutations and changes in subcellular location correlate with emergence of hair cell electromotility in mammalians.
Cortese M, Papal S, Pisciottano F, Elgoyhen AB, Hardelin JP, Petit C, Franchini LF, El-Amraoui A
Proc Natl Acad Sci U S A. 2017 Feb 21;114(8):2054-2059. doi: 10.1073/pnas.1618778114

Genomic approaches to studying human-specific developmental traits.
Franchini LF, Pollard KS
Development 2015 Sep 15;142(18):3100-12. doi: 10.1242/dev.120048

Can a few non-coding mutations make a human brain?
Franchini LF, Pollard KS.
Bioessays 2015 Aug 25 doi: 10.1002/bies.201500049. [Epub ahead of print]

Enhancer turnover and conserved regulatory function in vertebrate evolution.
Domené S, Bumaschny VF, de Souza FS, Franchini LF, Nasif S, Low MJ, Rubinstein M.
Philos Trans R Soc Lond B Biol Sci. 2013 Nov 11;368(1632):20130027. doi: 10.1098/rstb.2013.0027. Print 2013 Dec 19.

A fast-evolving human NPAS3 enhancer gained reporter expression in the developing forebrain of transgenic mice.
Kamm GB, López-Leal R, Lorenzo JR, Franchini LF.
Philos Trans R Soc Lond B Biol Sci. 2013 Nov 11;368(1632):20130019. doi: 10.1098/rstb.2013.0019. Print 2013 Dec 19.

Exaptation of transposable elements into novel cis-regulatory elements: is the evidence always strong?
de Souza FS, Franchini LF, Rubinstein M.
Mol Biol Evol. 2013 Jun;30(6):1239-51. doi: 10.1093/molbev/mst045. Epub 2013 Mar 13.

The developmental brain gene NPAS3 contains the largest number of accelerated regulatory sequences in the human genome.
Kamm GB, Pisciottano F, Kliger R, Franchini LF.
Mol Biol Evol. 2013 May;30(5):1088-102. doi: 10.1093/molbev/mst023. Epub 2013 Feb 13.

Positive selection of co-opted mobile genetic elements in a mammalian gene: If you can’t beat them, join them.
Franchini LF, de Souza FS, Low MJ, Rubinstein M.
Mob Genet Elements. 2012 Mar 1;2(2):106-109.

Phylogenetic differences in calcium permeability of the auditory hair cell cholinergic nicotinic receptor.
Lipovsek M, Im GJ, Franchini LF, Pisciottano F, Katz E, Fuchs PA, Elgoyhen AB.
Proc Natl Acad Sci U S A. 2012 Mar 13;109(11):4308-13. doi: 10.1073/pnas.1115488109. Epub 2012 Feb

The voltage-gated potassium channel subfamily KQT member 4 (KCNQ4) displays parallel evolution in echolocating bats.
Liu Y, Han N, Franchini LF, Xu H, Pisciottano F, Elgoyhen AB, Rajan KE, Zhang S.
Mol Biol Evol. 2012 May;29(5):1441-50. doi: 10.1093/molbev/msr310. Epub 2011 Dec 13.

Convergent evolution of two mammalian neuronal enhancers by sequential exaptation of unrelated retroposons.
Franchini LF, López-Leal R, Nasif S, Beati P, Gelman DM, Low MJ, de Souza FJ, Rubinstein M.
Proc Natl Acad Sci U S A. 2011 Sep 13;108(37):15270-5. doi: 10.1073/pnas.1104997108. Epub 2011 Aug 29. Erratum in: Proc Natl Acad Sci U S A. 2011 Dec 20;108(51):20850.

Prestin and the cholinergic receptor of hair cells: positively-selected proteins in mammals.
Elgoyhen AB, Franchini LF.
Hear Res. 2011 Mar;273(1-2):100-8. doi: 10.1016/j.heares.2009.12.028. Epub 2010 Jan 6. Review.

Ancient exaptation of a CORE-SINE retroposon into a highly conserved mammalian neuronal enhancer of the proopiomelanocortin gene.
Santangelo AM, de Souza FS, Franchini LF, Bumaschny VF, Low MJ, Rubinstein M.
PLoS Genet. 2007 Oct;3(10):1813-26.

Functional activation by central monoamines of human dopamine D(4) receptor polymorphic variants coupled to GIRK channels in Xenopus oocytes.
Wedemeyer C, Goutman JD, Avale ME, Franchini LF, Rubinstein M, Calvo DJ.
Eur J Pharmacol. 2007 May 21;562(3):165-73. Epub 2007 Feb 8.

Adaptive evolution in mammalian proteins involved in cochlear outer hair cell electromotility.
Franchini LF, Elgoyhen AB.
Mol Phylogenet Evol. 2006 Dec;41(3):622-35. Epub 2006 Jun 6.

Retrotransposon-gene associations are widespread among D. melanogaster populations.
Franchini LF, Ganko EW, McDonald JF.
Mol Biol Evol. 2004 Jul;21(7):1323-31. Epub 2004 Mar 10.

Reduced sodium appetite and increased oxytocin gene expression in mutant mice lacking beta-endorphin.
Franchini LF, Rubinstein M, Vivas L.
Neuroscience. 2003;121(4):875-81.

Sodium appetite and Fos activation in serotonergic neurons.
Franchini LF, Johnson AK, de Olmos J, Vivas L.
Am J Physiol Regul Integr Comp Physiol. 2002 Jan;282(1):R235-43.

Distribution of Fos immunoreactivity in rat brain after sodium consumption induced by peritoneal dialysis.
Franchini LF, Vivas L.
Am J Physiol. 1999 Apr;276(4 Pt 2):R1180-7.