{"entity": "journal", "iuid": "6c38767533e3452d9d9624b8e42366ff", "timestamp": "2026-08-17T07:52:59.298Z", "links": {"self": {"href": "https://publications.scilifelab.se/journal/BMC%20Genet..json"}, "display": {"href": "https://publications.scilifelab.se/journal/BMC%20Genet."}}, "title": "BMC Genet.", "issn": "1471-2156", "issn-l": "1471-2156", "publications_count": 3, "publications": [{"entity": "publication", "iuid": "3d27ad2c075348029d3f5ac0be8dd349", "links": {"self": {"href": "https://publications.scilifelab.se/publication/3d27ad2c075348029d3f5ac0be8dd349.json"}, "display": {"href": "https://publications.scilifelab.se/publication/3d27ad2c075348029d3f5ac0be8dd349"}}, "title": "Antimicrobial peptide and sequence variation along a latitudinal gradient in two anurans.", "authors": [{"family": "Cort\u00e1zar-Chinarro", "given": "Maria", "initials": "M"}, {"family": "Meyer-Lucht", "given": "Yvonne", "initials": "Y"}, {"family": "Van der Valk", "given": "Tom", "initials": "T"}, {"family": "Richter-Boix", "given": "Alex", "initials": "A"}, {"family": "Laurila", "given": "Anssi", "initials": "A"}, {"family": "H\u00f6glund", "given": "Jacob", "initials": "J"}], "type": "journal article", "published": "2020-03-30", "journal": {"title": "BMC Genet.", "issn": "1471-2156", "volume": "21", "issue": "1", "pages": "38", "issn-l": "1471-2156"}, "abstract": "While there is evidence of both purifying and balancing selection in immune defense genes, large-scale genetic diversity in antimicrobial peptides (AMPs), an important part of the innate immune system released from dermal glands in the skin, has remained uninvestigated. Here we describe genetic diversity at three AMP loci (Temporin, Brevinin and Palustrin) in two ranid frogs (Rana arvalis and R. temporaria) along a 2000 km latitudinal gradient. We amplified and sequenced part of the Acidic Propiece domain and the hypervariable Mature Peptide domain (~ 150-200 bp) in the three genes using Illumina Miseq and expected to find decreased AMP genetic variation towards the northern distribution limit of the species similarly to studies on MHC genetic patterns.\n\nWe found multiple loci for each AMP and relatively high gene diversity, but no clear pattern of geographic genetic structure along the latitudinal gradient. We found evidence of trans-specific polymorphism in the two species, indicating a common evolutionary origin of the alleles. Temporin and Brevinin did not form monophyletic clades suggesting that they belong to the same gene family. By implementing codon evolution models we found evidence of strong positive selection acting on the Mature Peptide. We also found evidence of diversifying selection as indicated by divergent allele frequencies among populations and high Theta k values.\n\nOur results suggest that AMPs are an important source of adaptive diversity, minimizing the chance of microorganisms developing resistance to individual peptides.", "doi": "10.1186/s12863-020-00839-1", "pmid": "32228443", "labels": {"National Genomics Infrastructure": "Service", "NGI Uppsala (SNP&SEQ Technology Platform)": "Service", "Bioinformatics Support for Computational Resources": "Service"}, "xrefs": [{"db": "pii", "key": "10.1186/s12863-020-00839-1"}, {"db": "pmc", "key": "PMC7106915"}], "notes": [], "created": "2020-07-03T05:23:05.872Z", "modified": "2024-01-16T13:48:42.737Z"}, {"entity": "publication", "iuid": "6fa53d5882bc44ccb2d2078ffadb5c1e", "links": {"self": {"href": "https://publications.scilifelab.se/publication/6fa53d5882bc44ccb2d2078ffadb5c1e.json"}, "display": {"href": "https://publications.scilifelab.se/publication/6fa53d5882bc44ccb2d2078ffadb5c1e"}}, "title": "Mapping of leptin and its syntenic genes to chicken chromosome 1p", "authors": [{"family": "Seroussi", "given": "Eyal", "initials": "E"}, {"family": "Pitel", "given": "Fr\u00e9d\u00e9rique", "initials": "F"}, {"family": "Leroux", "given": "Sophie", "initials": "S"}, {"family": "Morisson", "given": "Mireille", "initials": "M"}, {"family": "Bornel\u00f6v", "given": "Susanne", "initials": "S"}, {"family": "Miyara", "given": "Shoval", "initials": "S"}, {"family": "Yosefi", "given": "Sara", "initials": "S"}, {"family": "Cogburn", "given": "Larry A", "initials": "LA"}, {"family": "Burt", "given": "David W", "initials": "DW"}, {"family": "Anderson", "given": "Leif", "initials": "L"}, {"family": "Friedman-Einat", "given": "Miriam", "initials": "M"}], "type": "journal-article", "published": "2017-12-00", "journal": {"volume": "18", "issn": "1471-2156", "issue": "1", "pages": null, "title": "BMC Genet.", "issn-l": "1471-2156"}, "abstract": null, "doi": "10.1186/s12863-017-0543-1", "pmid": "28793857", "labels": {"National Genomics Infrastructure": "Service", "NGI Uppsala (SNP&SEQ Technology Platform)": "Service"}, "xrefs": [{"db": "BioProject", "description": "Mapping of leptin and its syntenic genes to chicken chromosome 1p", "key": "PRJEB18741"}], "notes": [], "created": "2017-11-02T18:42:15.441Z", "modified": "2020-01-21T13:56:11.270Z"}, {"entity": "publication", "iuid": "bf4076da7fae4b4e950d40a67c820b3f", "links": {"self": {"href": "https://publications.scilifelab.se/publication/bf4076da7fae4b4e950d40a67c820b3f.json"}, "display": {"href": "https://publications.scilifelab.se/publication/bf4076da7fae4b4e950d40a67c820b3f"}}, "title": "Exome sequencing in one family with gastric- and rectal cancer.", "authors": [{"family": "Thutkawkorapin", "given": "Jessada", "initials": "J"}, {"family": "Picelli", "given": "Simone", "initials": "S"}, {"family": "Kontham", "given": "Vinaykumar", "initials": "V"}, {"family": "Liu", "given": "Tao", "initials": "T"}, {"family": "Nilsson", "given": "Daniel", "initials": "D"}, {"family": "Lindblom", "given": "Annika", "initials": "A"}], "type": "journal article", "published": "2016-02-13", "journal": {"volume": "17", "issn": "1471-2156", "issue": null, "pages": "41", "title": "BMC Genet.", "issn-l": "1471-2156"}, "abstract": "Heritable factors are well known to increase the risk of cancer in families. Known susceptibility genes account for a small proportion of all colorectal cancer cases. The aim of this study was to identify the genetic background in a family suggested to segregate a dominant cancer syndrome with a high risk of rectal- and gastric cancer. We performed whole exome sequencing in three family members, 2 with rectal cancer and 1 with gastric cancer and followed it up in additional family members, other patients and controls.\n\nWe identified 12 novel non-synonymous single nucleotide variants, which were shared among 5 affected members of this family. The mutations were found in 12 different genes; DZIP1L, PCOLCE2, IGSF10, SUCNR1, OR13C8, EPB41L4B, SEC16A, NOTCH1, TAS2R7, SF3A1, GAL3ST1, and TRIOBP. None of the mutations was suggested as a high penetrant mutation. It was not possible to completely rule out any of the mutations as contributing to disease, although seven were more unlikely than the others. Neither did we rule out the effect of all thousands of intronic, intergenic and synonymous variants shared between the three persons used for exome sequencing.\n\nWe propose this family, suggested to segregate dominant disease, could be an example of complex inheritance.", "doi": "10.1186/s12863-016-0351-z", "pmid": "26872740", "labels": {"National Genomics Infrastructure": "Service", "NGI Uppsala (SNP&SEQ Technology Platform)": "Service", "Clinical Genomics Stockholm": "Service", "Bioinformatics Support for Computational Resources": "Service", "Clinical Genomics": "Service"}, "xrefs": [{"db": "pii", "key": "10.1186/s12863-016-0351-z"}, {"db": "pmc", "key": "PMC4752738"}], "notes": [], "created": "2017-05-03T13:00:20.538Z", "modified": "2024-01-16T13:48:50.463Z"}], "created": "2017-05-09T09:12:54.813Z", "modified": "2020-11-27T13:14:03.631Z"}