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4 results on '"Louzada, Sandra"'

1. The pig X and Y Chromosomes: structure, sequence, and evolution.

Author

Skinner BM, Sargent CA, Churcher C, Hunt T, Herrero J, Loveland JE, Dunn M, Louzada S, Fu B, Chow W, Gilbert J, Austin-Guest S, Beal K, Carvalho-Silva D, Cheng W, Gordon D, Grafham D, Hardy M, Harley J, Hauser H, Howden P, Howe K, Lachani K, Ellis PJ, Kelly D, Kerry G, Kerwin J, Ng BL, Threadgold G, Wileman T, Wood JM, Yang F, Harrow J, Affara NA, and Tyler-Smith C

Subjects
Animals, Base Sequence, Cats genetics, Dogs genetics, Female, Gene Conversion, Gene Expression, Gene Library, Gene Order, Humans, Male, Molecular Sequence Data, Sequence Alignment, Sequence Analysis, DNA, Chromosomes, Mammalian genetics, Evolution, Molecular, Swine genetics, X Chromosome genetics, Y Chromosome genetics
Abstract

We have generated an improved assembly and gene annotation of the pig X Chromosome, and a first draft assembly of the pig Y Chromosome, by sequencing BAC and fosmid clones from Duroc animals and incorporating information from optical mapping and fiber-FISH. The X Chromosome carries 1033 annotated genes, 690 of which are protein coding. Gene order closely matches that found in primates (including humans) and carnivores (including cats and dogs), which is inferred to be ancestral. Nevertheless, several protein-coding genes present on the human X Chromosome were absent from the pig, and 38 pig-specific X-chromosomal genes were annotated, 22 of which were olfactory receptors. The pig Y-specific Chromosome sequence generated here comprises 30 megabases (Mb). A 15-Mb subset of this sequence was assembled, revealing two clusters of male-specific low copy number genes, separated by an ampliconic region including the HSFY gene family, which together make up most of the short arm. Both clusters contain palindromes with high sequence identity, presumably maintained by gene conversion. Many of the ancestral X-related genes previously reported in at least one mammalian Y Chromosome are represented either as active genes or partial sequences. This sequencing project has allowed us to identify genes--both single copy and amplified--on the pig Y Chromosome, to compare the pig X and Y Chromosomes for homologous sequences, and thereby to reveal mechanisms underlying pig X and Y Chromosome evolution., (© 2016 Skinner et al.; Published by Cold Spring Harbor Laboratory Press.)

Published
2016
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2. Expansion of the HSFY gene family in pig lineages : HSFY expansion in suids.

Author

Skinner BM, Lachani K, Sargent CA, Yang F, Ellis P, Hunt T, Fu B, Louzada S, Churcher C, Tyler-Smith C, and Affara NA

Subjects
Animals, Codon, Nonsense, Gene Amplification, Male, Multigene Family, Short Interspersed Nucleotide Elements, Sus scrofa, Swine classification, Testis metabolism, Transcription Factors metabolism, DNA Repeat Expansion, Swine genetics, Transcription Factors genetics, Y Chromosome genetics
Abstract

Background: Amplified gene families on sex chromosomes can harbour genes with important biological functions, especially relating to fertility. The Y-linked heat shock transcription factor (HSFY) family has become amplified on the Y chromosome of the domestic pig (Sus scrofa), in an apparently independent event to an HSFY expansion on the Y chromosome of cattle (Bos taurus). Although the biological functions of HSFY genes are poorly understood, they appear to be involved in gametogenesis in a number of mammalian species, and, in cattle, HSFY gene copy number may correlate with levels of fertility., Results: We have investigated the HSFY family in domestic pig, and other suid species including warthog, bushpig, babirusa and peccaries. The domestic pig contains at least two amplified variants of HSFY, distinguished predominantly by presence or absence of a SINE within the intron. Both these variants are expressed in testis, and both are present in approximately 50 copies each in a single cluster on the short arm of the Y. The longer form has multiple nonsense mutations rendering it likely non-functional, but many of the shorter forms still have coding potential. Other suid species also have these two variants of HSFY, and estimates of copy number suggest the HSFY family may have amplified independently twice during suid evolution., Conclusions: The HSFY genes have become amplified in multiple species lineages independently. HSFY is predominantly expressed in testis in domestic pig, a pattern conserved with cattle, in which HSFY may play a role in fertility. Further investigation of the potential associations of HSFY with fertility and testis development may be of agricultural interest.

Published
2015
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3. Expansion of the HSFY gene family in pig lineages: HSFY expansion in suids

Author

Skinner, Benjamin M, Lachani, Kim, Sargent, Carole A, Yang, Fengtang, Ellis, Peter, Hunt, Toby, Fu, Beiyuan, Louzada, Sandra, Churcher, Carol, Tyler-Smith, Chris, Affara, Nabeel A, Skinner, Benjamin [0000-0002-7152-1167], Sargent, Carole [0000-0002-4205-3085], and Apollo - University of Cambridge Repository

Subjects
Male, DNA Repeat Expansion, Swine, Sus scrofa, Gene Amplification, QH301, Codon, Nonsense, Multigene Family, Y Chromosome, Testis, Animals, SF, QH426, Short Interspersed Nucleotide Elements, Transcription Factors
Abstract

BACKGROUND: Amplified gene families on sex chromosomes can harbour genes with important biological functions, especially relating to fertility. The Y-linked heat shock transcription factor (HSFY) family has become amplified on the Y chromosome of the domestic pig (Sus scrofa), in an apparently independent event to an HSFY expansion on the Y chromosome of cattle (Bos taurus). Although the biological functions of HSFY genes are poorly understood, they appear to be involved in gametogenesis in a number of mammalian species, and, in cattle, HSFY gene copy number may correlate with levels of fertility. RESULTS: We have investigated the HSFY family in domestic pig, and other suid species including warthog, bushpig, babirusa and peccaries. The domestic pig contains at least two amplified variants of HSFY, distinguished predominantly by presence or absence of a SINE within the intron. Both these variants are expressed in testis, and both are present in approximately 50 copies each in a single cluster on the short arm of the Y. The longer form has multiple nonsense mutations rendering it likely non-functional, but many of the shorter forms still have coding potential. Other suid species also have these two variants of HSFY, and estimates of copy number suggest the HSFY family may have amplified independently twice during suid evolution. CONCLUSIONS: The HSFY genes have become amplified in multiple species lineages independently. HSFY is predominantly expressed in testis in domestic pig, a pattern conserved with cattle, in which HSFY may play a role in fertility. Further investigation of the potential associations of HSFY with fertility and testis development may be of agricultural interest.

Published
2015

4. Expansion of the HSFY gene family in pig lineages : HSFY expansion in suids

Author

Skinner, Benjamin M, Lachani, Kim, Sargent, Carole A, Yang, Fengtang, Ellis, Peter, Hunt, Toby, Fu, Beiyuan, Louzada, Sandra, Churcher, Carol, Tyler-Smith, Chris, and Affara, Nabeel A

Subjects
2. Zero hunger, Male, DNA Repeat Expansion, Codon, Nonsense, Swine, Multigene Family, Y Chromosome, Sus scrofa, Testis, Gene Amplification, Animals, Short Interspersed Nucleotide Elements, Transcription Factors
Abstract

BACKGROUND: Amplified gene families on sex chromosomes can harbour genes with important biological functions, especially relating to fertility. The Y-linked heat shock transcription factor (HSFY) family has become amplified on the Y chromosome of the domestic pig (Sus scrofa), in an apparently independent event to an HSFY expansion on the Y chromosome of cattle (Bos taurus). Although the biological functions of HSFY genes are poorly understood, they appear to be involved in gametogenesis in a number of mammalian species, and, in cattle, HSFY gene copy number may correlate with levels of fertility. RESULTS: We have investigated the HSFY family in domestic pig, and other suid species including warthog, bushpig, babirusa and peccaries. The domestic pig contains at least two amplified variants of HSFY, distinguished predominantly by presence or absence of a SINE within the intron. Both these variants are expressed in testis, and both are present in approximately 50 copies each in a single cluster on the short arm of the Y. The longer form has multiple nonsense mutations rendering it likely non-functional, but many of the shorter forms still have coding potential. Other suid species also have these two variants of HSFY, and estimates of copy number suggest the HSFY family may have amplified independently twice during suid evolution. CONCLUSIONS: The HSFY genes have become amplified in multiple species lineages independently. HSFY is predominantly expressed in testis in domestic pig, a pattern conserved with cattle, in which HSFY may play a role in fertility. Further investigation of the potential associations of HSFY with fertility and testis development may be of agricultural interest.

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